#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
OR4K5	79317	broad.mit.edu	37	14	20389117	20389117	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:20389117A>G	ENST00000315915.4	+	1	377	c.352A>G	c.(352-354)Atg>Gtg	p.M118V		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACTTGTTTCGATGGCCTATGA	0.448																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(352-354)Atg>Gtg		olfactory receptor, family 4, subfamily K, member 5							216.0	219.0	218.0					14																	20389117		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389117A>G	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.352A>G	14.37:g.20389117A>G	ENSP00000319511:p.Met118Val						p.M118V	NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	377	+	all_cancers(95;0.00108)		118					Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.352A>G	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	13.65	2.300754	0.40694	.	.	ENSG00000176281	ENST00000315915	T	0.00995	5.46	4.41	3.23	0.37069	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.04048	0.0113	H	0.96365	3.81	0.33380	D	0.57471	B	0.32365	0.367	B	0.39119	0.291	T	0.00097	-1.2071	10	0.87932	D	0	.	9.195	0.37222	0.8165:0.1835:0.0:0.0	.	118	Q8NGD3	OR4K5_HUMAN	V	118	ENSP00000319511:M118V	ENSP00000319511:M118V	M	+	1	0	OR4K5	19458957	1.000000	0.71417	0.879000	0.34478	0.782000	0.44232	6.436000	0.73417	0.685000	0.31468	0.533000	0.62120	ATG		0.448	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		21	337	0	0	0	1	0	21	337				
ASB18	401036	broad.mit.edu	37	2	237150052	237150052	+	Intron	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:237150052C>T	ENST00000409749.3	-	2	205				AC079135.1_ENST00000415226.1_RNA|ASB18_ENST00000330842.6_Missense_Mutation_p.V38I	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		TCCCCTGCGACCAGGGCAGTG	0.532																																						ENST00000330842.6																			0				large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6						c.(112-114)Gtc>Atc		ankyrin repeat and SOCS box containing 18							67.0	67.0	67.0					2																	237150052		1951	4136	6087	SO:0001627	intron_variant	401036				intracellular signal transduction			g.chr2:237150052C>T	AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"""Ankyrin repeat domain containing"""	19770	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 18"""			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.206-7G>A	2.37:g.237150052C>T						ASB18_ENST00000409749.3_Intron|AC079135.1_ENST00000415226.1_RNA	p.V38I			Q6ZVZ8	ASB18_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)	1	206	-		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)	67					B6ZDL7	Missense_Mutation	SNP	ENST00000409749.3	37	c.112G>A	CCDS46548.1	.	.	.	.	.	.	.	.	.	.	C	6.674	0.493014	0.12702	.	.	ENSG00000182177	ENST00000330842	T	0.52295	0.67	5.12	3.3	0.37823	.	0.923042	0.08993	N	0.864105	T	0.33876	0.0878	.	.	.	0.26848	N	0.968234	B	0.23249	0.082	B	0.20955	0.032	T	0.24870	-1.0148	8	.	.	.	.	10.3126	0.43718	0.0:0.7894:0.1357:0.0749	.	38	Q6ZVZ8-2	.	I	38	ENSP00000329970:V38I	.	V	-	1	0	ASB18	236814791	0.997000	0.39634	0.201000	0.23476	0.070000	0.16714	1.419000	0.34793	0.538000	0.28769	0.655000	0.94253	GTC		0.532	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	NM_212556		8	50	0	0	0	1	0	8	50				
COQ3	51805	broad.mit.edu	37	6	99819333	99819333	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:99819333G>A	ENST00000254759.3	-	6	884	c.860C>T	c.(859-861)cCt>cTt	p.P287L	COQ3_ENST00000369240.1_Missense_Mutation_p.P59L|COQ3_ENST00000369242.1_Missense_Mutation_p.P59L	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	287				PET -> LEP (in Ref. 1; AAN76515). {ECO:0000305}.	glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TAGTGTTTCAGGTGAAACAAA	0.348																																						ENST00000254759.3																			0				cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8						c.(859-861)cCt>cTt		coenzyme Q3 methyltransferase							107.0	110.0	109.0					6																	99819333		2203	4300	6503	SO:0001583	missense	51805				glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity	g.chr6:99819333G>A	AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"""polyprenyldihydroxybenzoate methyltransferase"""	605196	"""coenzyme Q3 homolog, methyltransferase (yeast)"", ""coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"""			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.860C>T	6.37:g.99819333G>A	ENSP00000254759:p.Pro287Leu					COQ3_ENST00000369242.1_Missense_Mutation_p.P59L|COQ3_ENST00000369240.1_Missense_Mutation_p.P59L	p.P287L	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0625)	6	884	-		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)	287	PET -> LEP (in Ref. 1; AAN76515).				B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Missense_Mutation	SNP	ENST00000254759.3	37	c.860C>T	CCDS5042.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766861	0.90020	.	.	ENSG00000132423	ENST00000254759;ENST00000369242;ENST00000369240	T;T;T	0.39406	2.57;1.08;1.08	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.70675	0.3251	H	0.95294	3.65	0.80722	D	1	D	0.71674	0.998	D	0.65987	0.94	T	0.80899	-0.1176	10	0.72032	D	0.01	-3.7347	18.7588	0.91842	0.0:0.0:1.0:0.0	.	287	Q9NZJ6	COQ3_HUMAN	L	287;59;59	ENSP00000254759:P287L;ENSP00000358245:P59L;ENSP00000358243:P59L	ENSP00000254759:P287L	P	-	2	0	COQ3	99926054	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.174000	0.94824	2.490000	0.84030	0.563000	0.77884	CCT		0.348	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041602.1	NM_017421		6	32	0	0	0	1	0	6	32				
IGSF10	285313	broad.mit.edu	37	3	151160962	151160962	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:151160962A>C	ENST00000282466.3	-	5	5772	c.5773T>G	c.(5773-5775)Tcg>Gcg	p.S1925A	IGSF10_ENST00000495443.1_5'Flank	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1925	Ig-like C2-type 5.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTTCGCTCCGAACCAGTGGAA	0.443																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(5773-5775)Tcg>Gcg		immunoglobulin superfamily, member 10							104.0	107.0	106.0					3																	151160962		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151160962A>C	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5773T>G	3.37:g.151160962A>C	ENSP00000282466:p.Ser1925Ala						p.S1925A	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		5	5772	-			1925			Ig-like C2-type 5.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.5773T>G	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.662627	0.47572	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.67698	-0.28	5.01	5.01	0.66863	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40728	N	0.001023	T	0.74435	0.3716	L	0.39633	1.23	0.54753	D	0.999989	D	0.71674	0.998	D	0.87578	0.998	T	0.73528	-0.3954	9	.	.	.	.	14.7274	0.69354	1.0:0.0:0.0:0.0	.	1925	Q6WRI0	IGS10_HUMAN	A	1925;552	ENSP00000282466:S1925A	.	S	-	1	0	IGSF10	152643652	1.000000	0.71417	0.987000	0.45799	0.658000	0.38924	6.046000	0.71029	1.900000	0.55004	0.482000	0.46254	TCG		0.443	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		14	181	0	0	0	1	0	14	181				
ZBTB16	7704	broad.mit.edu	37	11	113934906	113934906	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:113934906T>A	ENST00000335953.4	+	2	1264	c.884T>A	c.(883-885)cTa>cAa	p.L295Q	ZBTB16_ENST00000392996.2_Missense_Mutation_p.L295Q	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	295					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GCTAGGGAGCTACACTATGGG	0.657																																						ENST00000335953.4																			0				central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6						c.(883-885)cTa>cAa		zinc finger and BTB domain containing 16							55.0	46.0	49.0					11																	113934906		2201	4296	6497	SO:0001583	missense	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:113934906T>A	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.884T>A	11.37:g.113934906T>A	ENSP00000338157:p.Leu295Gln					ZBTB16_ENST00000392996.2_Missense_Mutation_p.L295Q	p.L295Q	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	2	1264	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	295					Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	c.884T>A	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.929682	0.73327	.	.	ENSG00000109906	ENST00000335953;ENST00000392996	T;T	0.14266	2.52;2.52	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000001	T	0.27313	0.0670	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.982	D;P	0.85130	0.997;0.707	T	0.01608	-1.1313	10	0.56958	D	0.05	-7.8244	15.0535	0.71894	0.0:0.0:0.0:1.0	.	295;300	Q05516;Q59H43	ZBT16_HUMAN;.	Q	295	ENSP00000338157:L295Q;ENSP00000376721:L295Q	ENSP00000338157:L295Q	L	+	2	0	ZBTB16	113440116	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.795000	0.85887	2.141000	0.66446	0.533000	0.62120	CTA		0.657	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		11	36	0	0	0	1	0	11	36				
MGAM	8972	broad.mit.edu	37	7	141727028	141727028	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:141727028G>T	ENST00000549489.2	+	9	1190		c.e9+1		MGAM_ENST00000475668.2_Splice_Site	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATATCTAGAGGTAAACTTAGG	0.413																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.e9+1		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						112.0	104.0	107.0					7																	141727028		1854	4099	5953	SO:0001630	splice_region_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141727028G>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1095+1G>T	7.37:g.141727028G>T						MGAM_ENST00000549489.2_Splice_Site				O43451	MGA_HUMAN			9	1149	+	Melanoma(164;0.0272)							Q0VAX6|Q75ME7|Q86UM5	Splice_Site	SNP	ENST00000549489.2	37		CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388370	0.82902	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8265	0.85933	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MGAM	141373497	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.208000	0.95075	2.838000	0.97847	0.655000	0.94253	.		0.413	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		Intron	18	85	1	0	1.02788e-11	1	1.49915e-11	18	85				
WDR86	349136	broad.mit.edu	37	7	151097245	151097245	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:151097245C>A	ENST00000334493.6	-	2	676	c.246G>T	c.(244-246)tgG>tgT	p.W82C	WDR86_ENST00000477459.1_5'UTR|WDR86_ENST00000469830.2_Missense_Mutation_p.W82C	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	82										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAGCACGTCCCACCTCCTGA	0.597																																						ENST00000334493.6																			0				breast(1)|endometrium(2)|kidney(1)|lung(6)	10						c.(244-246)tgG>tgT		WD repeat domain 86							45.0	49.0	47.0					7																	151097245		2182	4271	6453	SO:0001583	missense	349136							g.chr7:151097245C>A	AK125347	CCDS5925.2, CCDS64805.1, CCDS64806.1, CCDS75680.1	7q36.1	2013-01-09			ENSG00000187260	ENSG00000187260		"""WD repeat domain containing"""	28020	protein-coding gene	gene with protein product						12477932	Standard	NM_198285		Approved		uc003wkb.2	Q86TI4	OTTHUMG00000150764	ENST00000334493.6:c.246G>T	7.37:g.151097245C>A	ENSP00000335522:p.Trp82Cys					WDR86_ENST00000477459.1_5'UTR|WDR86_ENST00000469830.2_Missense_Mutation_p.W82C	p.W82C	NM_198285.2	NP_938026.2	Q86TI4	WDR86_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	676	-			82					B4DJF1|C9JAJ5|C9JXE3|Q3KNT1|Q6ZUS8	Missense_Mutation	SNP	ENST00000334493.6	37	c.246G>T	CCDS5925.2	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997249	0.74818	.	.	ENSG00000187260	ENST00000334493;ENST00000469830	D;D	0.83506	-1.73;-1.73	5.1	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	.	.	.	.	D	0.94295	0.8167	H	0.97186	3.955	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.99	D	0.96205	0.9148	9	0.87932	D	0	-18.0755	17.1206	0.86701	0.0:1.0:0.0:0.0	.	82;82;40	B4DJF1;Q86TI4;D3DX12	.;WDR86_HUMAN;.	C	82	ENSP00000335522:W82C;ENSP00000419162:W82C	ENSP00000335522:W82C	W	-	3	0	WDR86	150728178	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.665000	0.68052	2.370000	0.80446	0.585000	0.79938	TGG		0.597	WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319999.3	NM_198285		4	23	1	0	0.150653	1	0.152925	4	23				
PCDH11X	27328	broad.mit.edu	37	X	91090943	91090943	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:91090943C>T	ENST00000373094.1	+	1	1285	c.440C>T	c.(439-441)tCa>tTa	p.S147L	PCDH11X_ENST00000373097.1_Missense_Mutation_p.S147L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S147L|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S147L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S147L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S147L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S147L|PCDH11X_ENST00000504220.2_Missense_Mutation_p.S147L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S147L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	147	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATCAACATATCAATTCCAGAG	0.363																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(439-441)tCa>tTa		protocadherin 11 X-linked							19.0	20.0	20.0					X																	91090943		2190	4285	6475	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090943C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.440C>T	X.37:g.91090943C>T	ENSP00000362186:p.Ser147Leu					PCDH11X_ENST00000373097.1_Missense_Mutation_p.S147L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S147L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S147L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S147L|PCDH11X_ENST00000504220.1_Missense_Mutation_p.S147L|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S147L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S147L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S147L	p.S147L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	1285	+			147			Cadherin 2.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.440C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332307	0.81801	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46	4.44	4.44	0.53790	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.69459	0.3113	M	0.63843	1.955	0.58432	D	0.999993	D;D;D;D;D;D;D;D	0.89917	1.0;0.968;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.943;0.999;0.999;0.999;0.999;0.999;0.999	T	0.73464	-0.3974	10	0.72032	D	0.01	.	15.4133	0.74943	0.0:1.0:0.0:0.0	.	147;147;147;147;147;147;147;147	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	L	147	ENSP00000378746:S147L;ENSP00000362186:S147L;ENSP00000362189:S147L;ENSP00000355040:S147L;ENSP00000362180:S147L;ENSP00000423762:S147L;ENSP00000355105:S147L;ENSP00000384758:S147L;ENSP00000298274:S147L	ENSP00000298274:S147L	S	+	2	0	PCDH11X	90977599	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.983000	0.76180	2.173000	0.68751	0.506000	0.49869	TCA		0.363	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		11	31	0	0	0	1	0	11	31				
AQP8	343	broad.mit.edu	37	16	25228596	25228596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:25228596G>A	ENST00000219660.5	+	2	215	c.90G>A	c.(88-90)tgG>tgA	p.W30*	AQP8_ENST00000566125.1_Nonsense_Mutation_p.W24*	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	30					canalicular bile acid transport (GO:0015722)|cellular response to cAMP (GO:0071320)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GAGTGTCCTGGTACGAACGGT	0.572																																						ENST00000219660.5																			0				NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(88-90)tgG>tgA		aquaporin 8							216.0	204.0	208.0					16																	25228596		2197	4300	6497	SO:0001587	stop_gained	343				cellular response to cAMP	integral to plasma membrane	water channel activity	g.chr16:25228596G>A	BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375		"""Ion channels / Aquaporins"""	642	protein-coding gene	gene with protein product		603750				9806845, 10393433	Standard	NM_001169		Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.90G>A	16.37:g.25228596G>A	ENSP00000219660:p.Trp30*					AQP8_ENST00000566125.1_Nonsense_Mutation_p.W24*	p.W30*	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN		GBM - Glioblastoma multiforme(48;0.044)	2	215	+			30					Q8IUU3|Q9UIA4	Nonsense_Mutation	SNP	ENST00000219660.5	37	c.90G>A	CCDS10626.1	.	.	.	.	.	.	.	.	.	.	G	36	5.741904	0.96873	.	.	ENSG00000103375	ENST00000219660	.	.	.	5.52	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-1.334	14.8616	0.70387	0.0:0.1447:0.8553:0.0	.	.	.	.	X	30	.	ENSP00000219660:W30X	W	+	3	0	AQP8	25136097	1.000000	0.71417	0.063000	0.19743	0.041000	0.13682	3.828000	0.55753	1.289000	0.44618	0.555000	0.69702	TGG		0.572	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214102.2	NM_001169		27	279	0	0	0	1	0	27	279				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			28313							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			4	23	0	0	0	1	0	4	23				
SERPINA5	5104	broad.mit.edu	37	14	95058508	95058508	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:95058508A>C	ENST00000554866.1	+	5	1267	c.1153A>C	c.(1153-1155)Aac>Cac	p.N385H	SERPINA5_ENST00000554276.1_Missense_Mutation_p.N385H|SERPINA5_ENST00000553780.1_Missense_Mutation_p.N385H|RP11-986E7.7_ENST00000553947.1_Intron|SERPINA5_ENST00000329597.7_Missense_Mutation_p.N385H			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	385					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GCTAGTGTTCAACAGGCCCTT	0.552																																						ENST00000329597.7																			0				endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36						c.(1153-1155)Aac>Cac		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						229.0	243.0	238.0					14																	95058508		2203	4300	6503	SO:0001583	missense	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95058508A>C	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.1153A>C	14.37:g.95058508A>C	ENSP00000451126:p.Asn385His					SERPINA5_ENST00000554276.1_Missense_Mutation_p.N385H|SERPINA5_ENST00000553780.1_Missense_Mutation_p.N385H|SERPINA3_ENST00000553947.1_Intron|SERPINA5_ENST00000554866.1_Missense_Mutation_p.N385H	p.N385H	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	6	1363	+			385					Q07616|Q9UG30	Missense_Mutation	SNP	ENST00000554866.1	37	c.1153A>C	CCDS9928.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.588413	0.46110	.	.	ENSG00000188488	ENST00000553780;ENST00000554866;ENST00000329597;ENST00000537685;ENST00000438291;ENST00000554276	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	5.49	1.8	0.24995	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.338683	0.27176	N	0.020572	D	0.94172	0.8130	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.92271	0.5825	10	0.87932	D	0	.	8.1265	0.31001	0.7686:0.0:0.2314:0.0	.	385	P05154	IPSP_HUMAN	H	385;385;385;237;309;385	ENSP00000450837:N385H;ENSP00000451126:N385H;ENSP00000333203:N385H;ENSP00000451610:N385H	ENSP00000333203:N385H	N	+	1	0	SERPINA5	94128261	1.000000	0.71417	0.983000	0.44433	0.239000	0.25481	1.831000	0.39141	0.116000	0.18110	0.533000	0.62120	AAC		0.552	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		58	359	0	0	0	1	0	58	359				
NAB1	4664	broad.mit.edu	37	2	191524250	191524250	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:191524250G>C	ENST00000337386.5	+	4	809	c.348G>C	c.(346-348)agG>agC	p.R116S	NAB1_ENST00000409641.1_Missense_Mutation_p.R116S|NAB1_ENST00000545490.1_5'Flank|NAB1_ENST00000357215.5_Missense_Mutation_p.R116S|NAB1_ENST00000409581.1_Missense_Mutation_p.R116S	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	116					endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of epidermis development (GO:0045682)|regulation of transcription, DNA-templated (GO:0006355)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			GTTATGAAAGGAGTAGCAATG	0.498																																						ENST00000337386.5																			0				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7						c.(346-348)agG>agC		NGFI-A binding protein 1 (EGR1 binding protein 1)							50.0	53.0	52.0					2																	191524250		2203	4300	6503	SO:0001583	missense	4664				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:191524250G>C		CCDS2307.1	2q32.3-q33	2008-05-23			ENSG00000138386	ENSG00000138386			7626	protein-coding gene	gene with protein product	"""EGR1 binding protein 1"""	600800				7624335, 8668170, 9418898	Standard	XM_005246579		Approved		uc002usb.3	Q13506	OTTHUMG00000132689	ENST00000337386.5:c.348G>C	2.37:g.191524250G>C	ENSP00000336894:p.Arg116Ser					NAB1_ENST00000409581.1_Missense_Mutation_p.R116S|NAB1_ENST00000357215.5_Missense_Mutation_p.R116S|NAB1_ENST00000409641.1_Missense_Mutation_p.R116S	p.R116S	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)		4	809	+			116					O75383|O75384|Q6GTU1|Q9UEV1	Missense_Mutation	SNP	ENST00000337386.5	37	c.348G>C	CCDS2307.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897052	0.33535	.	.	ENSG00000138386	ENST00000448811;ENST00000416973;ENST00000409581;ENST00000337386;ENST00000357215;ENST00000423076;ENST00000409641	.	.	.	5.29	2.5	0.30297	.	0.156761	0.56097	D	0.000039	T	0.25717	0.0626	L	0.27053	0.805	0.80722	D	1	P;B;B	0.40476	0.718;0.41;0.41	B;B;B	0.32762	0.152;0.071;0.071	T	0.06127	-1.0844	9	0.10111	T	0.7	-23.0649	10.2209	0.43196	0.2827:0.0:0.7173:0.0	.	116;116;116	F8W8J7;B8ZZS2;Q13506	.;.;NAB1_HUMAN	S	116;116;116;116;116;64;116	.	ENSP00000336894:R116S	R	+	3	2	NAB1	191232495	0.896000	0.30565	0.922000	0.36590	0.955000	0.61496	0.276000	0.18716	0.820000	0.34516	0.561000	0.74099	AGG		0.498	NAB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255986.1	NM_005966		4	51	0	0	0	1	0	4	51				
PFAS	5198	broad.mit.edu	37	17	8159848	8159848	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:8159848C>A	ENST00000314666.6	+	8	961	c.828C>A	c.(826-828)atC>atA	p.I276I	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	276					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	ACAGTGCAATCCAGGGAAAGG	0.602																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(826-828)atC>atA		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						79.0	69.0	72.0					17																	8159848		2203	4300	6503	SO:0001819	synonymous_variant	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8159848C>A	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.828C>A	17.37:g.8159848C>A						PFAS_ENST00000545834.1_5'UTR	p.I276I	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			8	961	+			276					A6H8V8	Silent	SNP	ENST00000314666.6	37	c.828C>A	CCDS11136.1																																																																																				0.602	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			14	53	1	0	1.49906e-05	1	1.79976e-05	14	53				
ZIC4	84107	broad.mit.edu	37	3	147113908	147113908	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:147113908G>A	ENST00000383075.3	-	3	931	c.419C>T	c.(418-420)aCc>aTc	p.T140I	ZIC4_ENST00000473123.1_Missense_Mutation_p.T140I|ZIC4_ENST00000425731.3_Missense_Mutation_p.T178I|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Missense_Mutation_p.T190I|ZIC4_ENST00000484399.1_Missense_Mutation_p.T140I	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	140						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GAGGCTCGGGGTCGCGGTGCC	0.652																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(418-420)aCc>aTc		Zic family member 4							40.0	49.0	46.0					3																	147113908		2202	4299	6501	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147113908G>A	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.419C>T	3.37:g.147113908G>A	ENSP00000372553:p.Thr140Ile					ZIC4_ENST00000425731.3_Missense_Mutation_p.T178I|ZIC4_ENST00000484399.1_Missense_Mutation_p.T140I|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Missense_Mutation_p.T140I|ZIC4_ENST00000525172.2_Missense_Mutation_p.T190I	p.T140I	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			3	931	-			140					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.419C>T	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461695	0.26248	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.12361	2.84;2.79;2.76;2.84;2.84;2.69	5.2	4.33	0.51752	.	0.877858	0.09546	N	0.787582	T	0.11281	0.0275	N	0.08118	0	0.80722	D	1	B;B	0.23058	0.079;0.01	B;B	0.33121	0.158;0.063	T	0.19647	-1.0299	10	0.51188	T	0.08	.	13.7221	0.62735	0.0746:0.0:0.9254:0.0	.	190;140	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	I	140;178;190;140;140;140	ENSP00000372553:T140I;ENSP00000397695:T178I;ENSP00000435509:T190I;ENSP00000417855:T140I;ENSP00000420775:T140I;ENSP00000420627:T140I	ENSP00000372553:T140I	T	-	2	0	ZIC4	148596598	1.000000	0.71417	0.651000	0.29564	0.337000	0.28794	7.620000	0.83070	1.189000	0.43028	0.511000	0.50034	ACC		0.652	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			17	150	0	0	0	1	0	17	150				
ZNF32	7580	broad.mit.edu	37	10	44139772	44139772	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:44139772T>G	ENST00000395797.1	-	3	736	c.548A>C	c.(547-549)cAc>cCc	p.H183P	ZNF32-AS2_ENST00000418966.1_RNA|ZNF32_ENST00000485351.1_5'Flank|ZNF32_ENST00000374433.2_Missense_Mutation_p.H183P|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	183					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		CTCACCACTGTGAACTCTCCT	0.483																																						ENST00000395797.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14						c.(547-549)cAc>cCc		zinc finger protein 32							119.0	115.0	116.0					10																	44139772		2203	4300	6503	SO:0001583	missense	7580				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr10:44139772T>G	U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"""Zinc fingers, C2H2-type"""	13095	protein-coding gene	gene with protein product		194539	"""zinc finger protein 32 (KOX 30)"""				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.548A>C	10.37:g.44139772T>G	ENSP00000379143:p.His183Pro					ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.H183P	p.H183P	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN		Lung(62;0.179)	3	736	-		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)	183					Q92951	Missense_Mutation	SNP	ENST00000395797.1	37	c.548A>C	CCDS7206.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.739362	0.69304	.	.	ENSG00000169740	ENST00000374433;ENST00000395797	T;T	0.67698	-0.28;-0.28	4.67	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000090	D	0.83408	0.5248	M	0.92219	3.285	0.58432	D	0.999994	P	0.49253	0.921	P	0.60473	0.875	D	0.87111	0.2185	10	0.87932	D	0	-10.9907	12.7252	0.57166	0.0:0.0:0.0:1.0	.	183	P17041	ZNF32_HUMAN	P	183	ENSP00000363556:H183P;ENSP00000379143:H183P	ENSP00000363556:H183P	H	-	2	0	ZNF32	43459778	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.578000	0.82498	2.319000	0.78375	0.533000	0.62120	CAC		0.483	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	NM_006973		8	61	0	0	0	1	0	8	61				
MAGI1	9223	broad.mit.edu	37	3	65350570	65350570	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:65350570G>A	ENST00000497477.2	-	18	3046	c.3047C>T	c.(3046-3048)aCc>aTc	p.T1016I	MAGI1_ENST00000402939.2_Missense_Mutation_p.T1083I|MAGI1_ENST00000330909.8_Missense_Mutation_p.T1111I|MAGI1_ENST00000483466.1_Missense_Mutation_p.T1112I			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1087	Interaction with FCHSD2.|PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GTGTGTGGTGGTGATGGTGGC	0.488																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(3331-3333)aCc>aTc		membrane associated guanylate kinase, WW and PDZ domain containing 1							253.0	242.0	246.0					3																	65350570		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65350570G>A	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.3047C>T	3.37:g.65350570G>A	ENSP00000424369:p.Thr1016Ile					MAGI1_ENST00000402939.2_Missense_Mutation_p.T1083I|MAGI1_ENST00000497477.2_Missense_Mutation_p.T1016I|MAGI1_ENST00000483466.1_Missense_Mutation_p.T1112I	p.T1111I	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	20	3331	-		Lung NSC(201;0.0016)	1112					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.3332C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.973734|3.973734	0.74246|0.74246	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	.|T;T;T;T;T;T	.|0.19669	.|2.51;2.13;2.14;2.13;2.16;2.15	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.045975	.|0.85682	.|N	.|0.000000	T|T	0.39708|0.39708	0.1088|0.1088	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|B;D;D;D	.|0.76494	.|0.113;0.999;0.991;0.992	.|B;D;D;D	.|0.72982	.|0.159;0.979;0.923;0.911	T|T	0.00907|0.00907	-1.1519|-1.1519	5|10	.|0.37606	.|T	.|0.19	-18.1759|-18.1759	20.8598|20.8598	0.99761|0.99761	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1016;1112;1083;1111	.|Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;.;.;.	S|I	992|1083;1111;1007;987;1112;1016;870	.|ENSP00000385450:T1083I;ENSP00000331157:T1111I;ENSP00000418177:T987I;ENSP00000420323:T1112I;ENSP00000424369:T1016I;ENSP00000420796:T870I	.|ENSP00000331157:T1111I	P|T	-|-	1|2	0|0	MAGI1|MAGI1	65325610|65325610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	9.869000|9.869000	0.99810|0.99810	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CCA|ACC		0.488	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		18	99	0	0	0	1	0	18	99				
TDRD6	221400	broad.mit.edu	37	6	46661854	46661854	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:46661854G>T	ENST00000316081.6	+	1	5989	c.5989G>T	c.(5989-5991)Gag>Tag	p.E1997*	TDRD6_ENST00000544460.1_Nonsense_Mutation_p.E1997*	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1997					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TTTGTTCTCTGAGGAAGAAAG	0.318																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(5989-5991)Gag>Tag		tudor domain containing 6							104.0	106.0	105.0					6																	46661854		2203	4300	6503	SO:0001587	stop_gained	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46661854G>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.5989G>T	6.37:g.46661854G>T	ENSP00000346065:p.Glu1997*					TDRD6_ENST00000316081.6_Nonsense_Mutation_p.E1997*	p.E1997*	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	6243	+			1997					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Nonsense_Mutation	SNP	ENST00000316081.6	37	c.5989G>T	CCDS34470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	11.028583|11.028583	0.99505|0.99505	.|.	.|.	ENSG00000180113|ENSG00000180113	ENST00000544460;ENST00000316081;ENST00000371334|ENST00000450697	.|.	.|.	.|.	5.07|5.07	3.26|3.26	0.37387|0.37387	.|.	0.323644|.	0.26362|.	N|.	0.024809|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.54805|.	T|.	0.06|.	-12.2551|-12.2551	7.9914|7.9914	0.30242|0.30242	0.1928:0.0:0.8072:0.0|0.1928:0.0:0.8072:0.0	.|.	.|.	.|.	.|.	X|L	1997;1997;58|49	.|.	ENSP00000346065:E1997X|.	E|X	+|+	1|2	0|2	TDRD6|TDRD6	46769813|46769813	0.954000|0.954000	0.32549|0.32549	0.124000|0.124000	0.21820|0.21820	0.044000|0.044000	0.14063|0.14063	1.743000|1.743000	0.38258|0.38258	0.520000|0.520000	0.28426|0.28426	0.557000|0.557000	0.71058|0.71058	GAG|TGA		0.318	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		11	76	1	0	2.80697e-09	1	3.89028e-09	11	76				
NDST4	64579	broad.mit.edu	37	4	115792067	115792067	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:115792067C>A	ENST00000264363.2	-	7	2254	c.1576G>T	c.(1576-1578)Gac>Tac	p.D526Y		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	526	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCTAGGCGGTCATTTCCATAG	0.393																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1576-1578)Gac>Tac		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							91.0	98.0	96.0					4																	115792067		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115792067C>A	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1576G>T	4.37:g.115792067C>A	ENSP00000264363:p.Asp526Tyr						p.D526Y	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	7	2254	-		Ovarian(17;0.156)	526			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1576G>T	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578763	0.86645	.	.	ENSG00000138653	ENST00000264363	T	0.57273	0.41	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.78329	0.4266	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82814	-0.0271	10	0.87932	D	0	.	18.9631	0.92684	0.0:1.0:0.0:0.0	.	526	Q9H3R1	NDST4_HUMAN	Y	526	ENSP00000264363:D526Y	ENSP00000264363:D526Y	D	-	1	0	NDST4	116011516	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.814000	0.86154	2.477000	0.83638	0.561000	0.74099	GAC		0.393	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		5	34	1	0	0.014758	1	0.0154462	5	34				
FREM2	341640	broad.mit.edu	37	13	39262895	39262895	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:39262895G>A	ENST00000280481.7	+	1	1630	c.1414G>A	c.(1414-1416)Gat>Aat	p.D472N		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	472					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGTCATCAGCGATGAGGATGA	0.592																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(1414-1416)Gat>Aat		FRAS1 related extracellular matrix protein 2							48.0	51.0	50.0					13																	39262895		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39262895G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1414G>A	13.37:g.39262895G>A	ENSP00000280481:p.Asp472Asn						p.D472N	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1630	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	472					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.1414G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528650	0.85706	.	.	ENSG00000150893	ENST00000280481	T	0.52295	0.67	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.75591	0.3870	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80004	-0.1564	10	0.87932	D	0	.	19.6229	0.95667	0.0:0.0:1.0:0.0	.	472	Q5SZK8	FREM2_HUMAN	N	472	ENSP00000280481:D472N	ENSP00000280481:D472N	D	+	1	0	FREM2	38160895	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.819000	0.99357	2.648000	0.89879	0.561000	0.74099	GAT		0.592	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		12	44	0	0	0	1	0	12	44				
STARD3NL	83930	broad.mit.edu	37	7	38253990	38253990	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:38253990G>C	ENST00000009041.7	+	3	515	c.258G>C	c.(256-258)aaG>aaC	p.K86N	STARD3NL_ENST00000434197.1_Missense_Mutation_p.K86N|STARD3NL_ENST00000396013.1_Missense_Mutation_p.K86N|STARD3NL_ENST00000544203.1_Missense_Mutation_p.K79N	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	86	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.					endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						CATTAGAGAAGGAGGTGATGC	0.333																																						ENST00000009041.7																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						c.(256-258)aaG>aaC		STARD3 N-terminal like							213.0	219.0	217.0					7																	38253990		2203	4300	6503	SO:0001583	missense	83930					integral to membrane|late endosome membrane		g.chr7:38253990G>C	AJ492267	CCDS5455.1	7p14-p13	2003-02-06			ENSG00000010270	ENSG00000010270			19169	protein-coding gene	gene with protein product		611759				12393907	Standard	NM_032016		Approved	MENTHO, MGC3251	uc003tfr.3	O95772	OTTHUMG00000023659	ENST00000009041.7:c.258G>C	7.37:g.38253990G>C	ENSP00000009041:p.Lys86Asn					STARD3NL_ENST00000434197.1_Missense_Mutation_p.K86N|STARD3NL_ENST00000544203.1_Missense_Mutation_p.K79N|STARD3NL_ENST00000396013.1_Missense_Mutation_p.K86N	p.K86N	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN			3	515	+			86			MENTAL.		A4D1X0	Missense_Mutation	SNP	ENST00000009041.7	37	c.258G>C	CCDS5455.1	.	.	.	.	.	.	.	.	.	.	G	7.386	0.629886	0.14257	.	.	ENSG00000010270	ENST00000009041;ENST00000544203;ENST00000434197;ENST00000396013;ENST00000440144;ENST00000453225;ENST00000429075	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.52	2.62	0.31277	MENTAL domain (2);	0.176816	0.64402	D	0.000012	T	0.24005	0.0581	N	0.20530	0.585	0.47037	D	0.99929	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.05716	-1.0868	10	0.17369	T	0.5	-11.9408	9.1292	0.36835	0.3182:0.0:0.6818:0.0	.	86;86	C9JKL2;O95772	.;MENTO_HUMAN	N	86;79;86;86;86;86;86	ENSP00000009041:K86N;ENSP00000439436:K79N;ENSP00000394000:K86N;ENSP00000379334:K86N;ENSP00000411933:K86N;ENSP00000395455:K86N;ENSP00000402028:K86N	ENSP00000009041:K86N	K	+	3	2	STARD3NL	38220515	0.985000	0.35326	0.996000	0.52242	0.271000	0.26615	0.167000	0.16602	0.244000	0.21351	-0.149000	0.13747	AAG		0.333	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226929.2			6	53	0	0	0	1	0	6	53				
MOV10	4343	broad.mit.edu	37	1	113232688	113232688	+	Silent	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:113232688C>G	ENST00000413052.2	+	5	1194	c.804C>G	c.(802-804)acC>acG	p.T268T	MOV10_ENST00000369644.1_Silent_p.T212T|MOV10_ENST00000369645.1_Silent_p.T268T|MOV10_ENST00000357443.2_Silent_p.T268T|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	268					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CTGTGGTGACCAATCGGATAG	0.622																																						ENST00000369644.1																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.(634-636)acC>acG		Mov10, Moloney leukemia virus 10, homolog (mouse)							59.0	61.0	61.0					1																	113232688		2203	4300	6503	SO:0001819	synonymous_variant	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113232688C>G	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.804C>G	1.37:g.113232688C>G						MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Silent_p.T268T|MOV10_ENST00000357443.2_Silent_p.T268T|MOV10_ENST00000369645.1_Silent_p.T268T	p.T212T			Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	6	1665	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	268					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Silent	SNP	ENST00000413052.2	37	c.636C>G	CCDS853.1																																																																																				0.622	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		15	61	0	0	0	1	0	15	61				
LILRB1	10859	broad.mit.edu	37	19	55147977	55147977	+	Silent	SNP	G	G	C	rs372689478		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:55147977G>C	ENST00000396331.1	+	15	2037	c.1680G>C	c.(1678-1680)gtG>gtC	p.V560V	LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Silent_p.V560V|LILRB1_ENST00000396315.1_Silent_p.V562V|LILRB1_ENST00000324602.7_Silent_p.V562V|LILRB1_ENST00000418536.2_Silent_p.V544V|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396332.4_Silent_p.V561V|LILRB1_ENST00000396327.3_Silent_p.V561V|LILRB1_ENST00000396317.1_Silent_p.V544V|LILRB1_ENST00000434867.2_Silent_p.V560V|LILRB1_ENST00000427581.2_Silent_p.V611V	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	560					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCCAGGCAGTGACGTATGCCG	0.572										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1678-1680)gtG>gtC		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							65.0	63.0	64.0					19																	55147977		2202	4296	6498	SO:0001819	synonymous_variant	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55147977G>C	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1680G>C	19.37:g.55147977G>C		HNSCC(37;0.09)				LILRB1_ENST00000396317.1_Silent_p.V544V|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000427581.2_Silent_p.V611V|LILRB1_ENST00000434867.2_Silent_p.V560V|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396315.1_Silent_p.V562V|LILRB1_ENST00000396327.3_Silent_p.V561V|LILRB1_ENST00000396332.4_Silent_p.V561V|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000324602.7_Silent_p.V562V|LILRB1_ENST00000418536.2_Silent_p.V544V|LILRB1_ENST00000396321.2_Silent_p.V560V	p.V560V	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	15	2037	+			560					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	c.1680G>C	CCDS42617.1																																																																																				0.572	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			5	58	0	0	0	1	0	5	58				
GBP3	2635	broad.mit.edu	37	1	89474719	89474719	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:89474719C>T	ENST00000370481.4	-	10	1790	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K		NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	0	Sufficient for membrane association.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TTCACATGTTCTTGATAACTC	0.423																																						ENST00000370481.4																			0				breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26						c.(1570-1572)Gaa>Aaa		guanylate binding protein 3							231.0	188.0	203.0					1																	89474719		2203	4300	6503	SO:0001583	missense	2635					integral to membrane	GTP binding|GTPase activity	g.chr1:89474719C>T	BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.1570G>A	1.37:g.89474719C>T	ENSP00000359512:p.Glu524Lys						p.E524K	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN		all cancers(265;0.0103)|Epithelial(280;0.0293)	10	1790	-		Lung NSC(277;0.123)	524					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000370481.4	37	c.1570G>A	CCDS717.2	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122247	0.56613	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000445969	T;T	0.62105	0.05;0.05	3.66	2.74	0.32292	Guanylate-binding protein, C-terminal (3);	0.061993	0.64402	D	0.000006	T	0.69958	0.3169	M	0.89785	3.06	0.21416	N	0.999691	D;D	0.67145	0.996;0.985	D;D	0.63597	0.912;0.916	T	0.63346	-0.6658	10	0.72032	D	0.01	.	9.0973	0.36647	0.0:0.8883:0.0:0.1117	.	390;524	F6X827;Q9H0R5	.;GBP3_HUMAN	K	492;524;104	ENSP00000359512:E524K;ENSP00000415087:E104K	ENSP00000359512:E524K	E	-	1	0	GBP3	89247307	0.986000	0.35501	0.069000	0.20011	0.009000	0.06853	4.612000	0.61169	0.894000	0.36317	-0.192000	0.12808	GAA		0.423	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284		9	61	0	0	0	1	0	9	61				
TNR	7143	broad.mit.edu	37	1	175375398	175375398	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:175375398C>A	ENST00000367674.2	-	3	1161	c.453G>T	c.(451-453)ctG>ctT	p.L151L	TNR_ENST00000263525.2_Silent_p.L151L			Q92752	TENR_HUMAN	tenascin R	151					associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACTGGTCTCGCAGCACCGACA	0.617																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(451-453)ctG>ctT		tenascin R							109.0	98.0	102.0					1																	175375398		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175375398C>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.453G>T	1.37:g.175375398C>A						TNR_ENST00000263525.2_Silent_p.L151L	p.L151L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			3	1161	-	Renal(580;0.146)		151					C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.453G>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	3.045	-0.196546	0.06259	.	.	ENSG00000116147	ENST00000422274	.	.	.	5.24	-0.384	0.12474	.	.	.	.	.	T	0.42494	0.1205	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26155	-1.0111	4	.	.	.	.	2.6857	0.05107	0.3493:0.2565:0.308:0.0862	.	.	.	.	S	35	.	.	A	-	1	0	TNR	173642021	0.908000	0.30866	0.998000	0.56505	0.284000	0.27059	-0.084000	0.11268	0.202000	0.20498	0.561000	0.74099	GCG		0.617	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		22	68	1	0	5.26018e-13	1	7.8273e-13	22	68				
MIR518A2	574491	broad.mit.edu	37	19	54244590	54244590	+	RNA	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:54244590T>C	ENST00000384966.1	+	0	87				MIR517C_ENST00000385103.1_RNA|MIR520H_ENST00000385126.1_RNA	NR_030213.1				microRNA 518a-2																		AGTGACCCTCTAGATGGAAGC	0.353																																						ENST00000385103.1																			0																				143.0	126.0	131.0					19																	54244590		1568	3582	5150			574492							g.chr19:54244590T>C			19q13.42	2011-09-12		2008-12-18	ENSG00000207699	ENSG00000207699		"""ncRNAs / Micro RNAs"""	32123	non-coding RNA	RNA, micro				MIRN518A-2, MIRN518A2			Standard	NR_030213		Approved	hsa-mir-518a-2	uc021vaq.1				19.37:g.54244590T>C								NR_030214.1						0	24	+									RNA	SNP	ENST00000384966.1	37																																																																																						0.353	MIR518A2-201	KNOWN	basic	miRNA	miRNA		NR_030213		7	85	0	0	0	1	0	7	85				
VPS41	27072	broad.mit.edu	37	7	38805245	38805245	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:38805245G>T	ENST00000310301.4	-	16	1318	c.1264C>A	c.(1264-1266)Ctt>Att	p.L422I	VPS41_ENST00000395969.2_Missense_Mutation_p.L397I	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	422					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)	p.L422I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TTTTTCCCAAGAATTTTCTGG	0.318																																						ENST00000310301.4																			1	Substitution - Missense(1)	p.L422I(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.(1264-1266)Ctt>Att		vacuolar protein sorting 41 homolog (S. cerevisiae)							61.0	65.0	63.0					7																	38805245		2203	4298	6501	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38805245G>T	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1264C>A	7.37:g.38805245G>T	ENSP00000309457:p.Leu422Ile					VPS41_ENST00000395969.2_Missense_Mutation_p.L397I	p.L422I	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN			16	1318	-			422					E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.1264C>A	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768623	0.90020	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.23950	1.88;1.89	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	M	0.73753	2.245	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.991;0.991	T	0.46652	-0.9176	10	0.35671	T	0.21	-17.6046	19.3294	0.94280	0.0:0.0:1.0:0.0	.	422;397;422	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	I	422;397	ENSP00000309457:L422I;ENSP00000379297:L397I	ENSP00000309457:L422I	L	-	1	0	VPS41	38771770	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.556000	0.98127	2.584000	0.87258	0.460000	0.39030	CTT		0.318	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			4	39	1	0	0.014758	1	0.0154462	4	39				
NEB	4703	broad.mit.edu	37	2	152472608	152472608	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:152472608C>A	ENST00000172853.10	-	72	10615	c.10468G>T	c.(10468-10470)Gct>Tct	p.A3490S	NEB_ENST00000603639.1_Missense_Mutation_p.A3733S|NEB_ENST00000427231.2_Missense_Mutation_p.A3733S|NEB_ENST00000397345.3_Missense_Mutation_p.A3733S|NEB_ENST00000604864.1_Missense_Mutation_p.A3733S|NEB_ENST00000409198.1_Missense_Mutation_p.A3490S			P20929	NEBU_HUMAN	nebulin	3490					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTTCCAAAGCAAGTTTATAG	0.378																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(11197-11199)Gct>Tct		nebulin							53.0	54.0	54.0					2																	152472608		1842	4076	5918	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152472608C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10468G>T	2.37:g.152472608C>A	ENSP00000172853:p.Ala3490Ser					NEB_ENST00000604864.1_Missense_Mutation_p.A3733S|NEB_ENST00000172853.10_Missense_Mutation_p.A3490S|NEB_ENST00000427231.2_Missense_Mutation_p.A3733S|NEB_ENST00000409198.1_Missense_Mutation_p.A3490S|NEB_ENST00000603639.1_Missense_Mutation_p.A3733S	p.A3733S	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	76	11399	-			3733					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.11197G>T		.	.	.	.	.	.	.	.	.	.	C	14.20	2.464794	0.43736	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.25	4.35	0.52113	.	0.208924	0.40469	N	0.001094	T	0.26774	0.0655	N	0.11724	0.165	0.80722	D	1	B	0.09022	0.002	B	0.18263	0.021	T	0.12553	-1.0543	10	0.02654	T	1	.	13.9957	0.64397	0.1577:0.8423:0.0:0.0	.	3490	P20929	NEBU_HUMAN	S	3490;3733;3733;3490	ENSP00000386259:A3490S;ENSP00000380505:A3733S;ENSP00000416578:A3733S;ENSP00000172853:A3490S	ENSP00000172853:A3490S	A	-	1	0	NEB	152180854	0.131000	0.22433	0.998000	0.56505	0.998000	0.95712	3.116000	0.50399	1.275000	0.44379	0.650000	0.86243	GCT		0.378	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		3	12	1	0	0.115264	1	0.117444	3	12				
CLTC	1213	broad.mit.edu	37	17	57758312	57758312	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:57758312G>T	ENST00000269122.3	+	19	3233	c.2959G>T	c.(2959-2961)Gaa>Taa	p.E987*	CLTC_ENST00000393043.1_Nonsense_Mutation_p.E987*|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	987	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GGACCCTGAAGAAGTGTCAGT	0.393			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(2959-2961)Gaa>Taa		clathrin, heavy chain (Hc)							137.0	130.0	132.0					17																	57758312		2203	4300	6503	SO:0001587	stop_gained	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57758312G>T	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2959G>T	17.37:g.57758312G>T	ENSP00000269122:p.Glu987*					CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Nonsense_Mutation_p.E987*	p.E987*	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			19	3233	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		987			Heavy chain arm.|Proximal segment.		D3DU00|Q6N0A0|Q86TF2	Nonsense_Mutation	SNP	ENST00000269122.3	37	c.2959G>T	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	43	10.158397	0.99349	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	.	.	.	5.09	5.09	0.68999	.	0.050350	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-15.471	18.4981	0.90872	0.0:0.0:1.0:0.0	.	.	.	.	X	987	.	ENSP00000269122:E987X	E	+	1	0	CLTC	55113094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.374000	0.81015	0.650000	0.86243	GAA		0.393	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		12	173	1	0	5.50884e-06	1	6.76465e-06	12	173				
SMG1	23049	broad.mit.edu	37	16	18849513	18849513	+	Silent	SNP	C	C	A	rs140975518		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:18849513C>A	ENST00000446231.2	-	45	7648	c.7236G>T	c.(7234-7236)acG>acT	p.T2412T	SMG1_ENST00000389467.3_Silent_p.T2412T			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2412	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CCTCCAGCAGCGTCAGCAGGG	0.542																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(7234-7236)acG>acT		SMG1 phosphatidylinositol 3-kinase-related kinase							37.0	37.0	37.0					16																	18849513		2027	4195	6222	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18849513C>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.7236G>T	16.37:g.18849513C>A						SMG1_ENST00000389467.3_Silent_p.T2412T	p.T2412T			Q96Q15	SMG1_HUMAN			45	7648	-			2412			PI3K/PI4K.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.7236G>T	CCDS45430.1																																																																																				0.542	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		3	21	1	0	0.00909568	1	0.00960694	3	21				
ITGA4	3676	broad.mit.edu	37	2	182363382	182363382	+	Silent	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:182363382A>C	ENST00000397033.2	+	15	2003	c.1573A>C	c.(1573-1575)Aga>Cga	p.R525R		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	525					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GGATGTGAACAGAAAGGCAGA	0.343																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1573-1575)Aga>Cga		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						91.0	87.0	89.0					2																	182363382		1999	4179	6178	SO:0001819	synonymous_variant	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182363382A>C		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1573A>C	2.37:g.182363382A>C							p.R525R	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		15	2003	+			525					D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	c.1573A>C	CCDS42788.1																																																																																				0.343	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			9	49	0	0	0	1	0	9	49				
GLI1	2735	broad.mit.edu	37	12	57858560	57858560	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:57858560C>T	ENST00000228682.2	+	4	389	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	GLI1_ENST00000546141.1_Missense_Mutation_p.R59C|GLI1_ENST00000543426.1_5'UTR	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	100					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.R100C(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GACGGTTATCCGCACCTCACC	0.567																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			1	Substitution - Missense(1)	p.R100C(1)	lung(1)	NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(298-300)Cgc>Tgc		GLI family zinc finger 1							135.0	108.0	117.0					12																	57858560		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57858560C>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.298C>T	12.37:g.57858560C>T	ENSP00000228682:p.Arg100Cys					GLI1_ENST00000543426.1_5'UTR|GLI1_ENST00000546141.1_Missense_Mutation_p.R59C	p.R100C	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		4	389	+			100					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.298C>T	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	c	18.19	3.567884	0.65651	.	.	ENSG00000111087	ENST00000228682;ENST00000546141;ENST00000528432;ENST00000528467	T;T;T	0.61040	0.14;0.3;0.3	3.62	3.62	0.41486	.	0.000000	0.47455	D	0.000221	T	0.73102	0.3544	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76228	-0.3036	10	0.87932	D	0	.	10.0352	0.42125	0.202:0.798:0.0:0.0	.	100	P08151	GLI1_HUMAN	C	100;59;100;59	ENSP00000228682:R100C;ENSP00000441006:R59C;ENSP00000434408:R59C	ENSP00000228682:R100C	R	+	1	0	GLI1	56144827	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	1.397000	0.34543	2.017000	0.59298	0.556000	0.70494	CGC		0.567	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		4	53	0	0	0	1	0	4	53				
LRRTM4	80059	broad.mit.edu	37	2	77745716	77745716	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:77745716C>A	ENST00000409093.1	-	3	1615	c.1279G>T	c.(1279-1281)Gcc>Tcc	p.A427S	LRRTM4_ENST00000409282.1_Missense_Mutation_p.A428S|LRRTM4_ENST00000409884.1_Missense_Mutation_p.A427S|LRRTM4_ENST00000409088.3_Missense_Mutation_p.A427S|LRRTM4_ENST00000409911.1_Missense_Mutation_p.A428S			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	427					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ACACTCCCGGCAATAATTTTG	0.493																																						ENST00000409088.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(1279-1281)Gcc>Tcc		leucine rich repeat transmembrane neuronal 4							81.0	82.0	82.0					2																	77745716		1952	4153	6105	SO:0001583	missense	80059					integral to membrane		g.chr2:77745716C>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1279G>T	2.37:g.77745716C>A	ENSP00000386357:p.Ala427Ser					LRRTM4_ENST00000409884.1_Missense_Mutation_p.A427S|LRRTM4_ENST00000409093.1_Missense_Mutation_p.A427S|LRRTM4_ENST00000409282.1_Missense_Mutation_p.A428S|LRRTM4_ENST00000409911.1_Missense_Mutation_p.A428S	p.A427S	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1693	-			427					Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.1279G>T	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847609	0.71603	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.85270	0.5658	M	0.71581	2.175	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76575	0.972;0.988;0.972	T	0.82758	-0.0299	10	0.31617	T	0.26	.	18.3564	0.90358	0.0:1.0:0.0:0.0	.	428;427;427	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	S	428;427;427;427;428	ENSP00000387228:A428S;ENSP00000387297:A427S;ENSP00000386357:A427S;ENSP00000386236:A427S;ENSP00000386286:A428S	ENSP00000386236:A427S	A	-	1	0	LRRTM4	77599224	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.670000	0.90874	0.655000	0.94253	GCC		0.493	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		5	57	1	0	0.0215528	1	0.0223551	5	57				
DNAH14	127602	broad.mit.edu	37	1	225152204	225152204	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:225152204A>G	ENST00000445597.2	+	6	772	c.772A>G	c.(772-774)Aga>Gga	p.R258G	DNAH14_ENST00000366848.1_Missense_Mutation_p.R131G|DNAH14_ENST00000400952.3_Missense_Mutation_p.R131G|DNAH14_ENST00000366849.1_Missense_Mutation_p.R131G|DNAH14_ENST00000366850.3_Missense_Mutation_p.R131G|DNAH14_ENST00000430092.1_Missense_Mutation_p.R131G|DNAH14_ENST00000439375.2_Missense_Mutation_p.R131G			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	258					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TGATGTGATAAGAAATATTAT	0.333																																						ENST00000430092.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						c.(391-393)Aga>Gga		dynein, axonemal, heavy chain 14							88.0	87.0	87.0					1																	225152204		1797	4074	5871	SO:0001583	missense	127602				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity	g.chr1:225152204A>G	U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.772A>G	1.37:g.225152204A>G	ENSP00000409472:p.Arg258Gly					DNAH14_ENST00000366848.1_Missense_Mutation_p.R131G|DNAH14_ENST00000366849.1_Missense_Mutation_p.R131G|DNAH14_ENST00000439375.2_Missense_Mutation_p.R131G|DNAH14_ENST00000400952.3_Missense_Mutation_p.R131G|DNAH14_ENST00000366850.3_Missense_Mutation_p.R131G	p.R131G	NM_001373.1	NP_001364.1	Q0VDD8	DYH14_HUMAN			5	606	+			258					A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	ENST00000445597.2	37	c.391A>G		.	.	.	.	.	.	.	.	.	.	A	11.37	1.618169	0.28801	.	.	ENSG00000185842	ENST00000445597;ENST00000430092;ENST00000366850;ENST00000400952;ENST00000366849;ENST00000366848;ENST00000439375	T;T;T;T;T;T;T	0.32272	2.5;1.51;1.46;1.47;1.49;1.46;1.51	5.2	1.41	0.22369	.	0.570680	0.17021	N	0.190114	T	0.20414	0.0491	.	.	.	0.09310	N	1	B;P;B;B	0.42518	0.187;0.782;0.358;0.244	B;B;B;B	0.40256	0.08;0.324;0.215;0.107	T	0.12344	-1.0551	9	0.48119	T	0.1	.	2.3305	0.04234	0.4674:0.303:0.0833:0.1463	.	131;131;131;258	Q0VDD8-4;Q0VDD8-3;Q0VDD8-2;Q0VDD8	.;.;.;DYH14_HUMAN	G	258;131;131;131;131;131;131	ENSP00000409472:R258G;ENSP00000414402:R131G;ENSP00000355815:R131G;ENSP00000383737:R131G;ENSP00000355814:R131G;ENSP00000355813:R131G;ENSP00000392061:R131G	ENSP00000355813:R131G	R	+	1	2	DNAH14	223218827	0.018000	0.18449	0.001000	0.08648	0.741000	0.42261	0.434000	0.21494	0.044000	0.15775	0.329000	0.21502	AGA		0.333	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000331217.3	XM_059166		20	100	0	0	0	1	0	20	100				
RAPGEF2	9693	broad.mit.edu	37	4	160252802	160252802	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:160252802G>T	ENST00000264431.4	+	9	1532	c.1113G>T	c.(1111-1113)agG>agT	p.R371S		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	371	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GACACCTAAGGCTGTTGAATA	0.388																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(1111-1113)agG>agT		Rap guanine nucleotide exchange factor (GEF) 2							112.0	102.0	105.0					4																	160252802		1868	4103	5971	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160252802G>T	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.1113G>T	4.37:g.160252802G>T	ENSP00000264431:p.Arg371Ser						p.R371S	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	9	1532	+	all_hematologic(180;0.24)		371			N-terminal Ras-GEF.		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.1113G>T	CCDS43277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.16|14.16	2.452782|2.452782	0.43531|0.43531	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000512056|ENST00000264431	.|T	.|0.29917	.|1.55	5.39|5.39	4.55|4.55	0.56014|0.56014	.|PDZ/DHR/GLGF (1);Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.41351|0.41351	0.1155|0.1155	M|M	0.76727|0.76727	2.345|2.345	0.80722|0.80722	D|D	1|1	.|P	.|0.37997	.|0.614	.|B	.|0.43360	.|0.417	T|T	0.31138|0.31138	-0.9954|-0.9954	5|10	.|0.39692	.|T	.|0.17	.|.	13.8285|13.8285	0.63366|0.63366	0.0736:0.0:0.9264:0.0|0.0736:0.0:0.9264:0.0	.|.	.|371	.|Q9Y4G8	.|RPGF2_HUMAN	S|S	9|371	.|ENSP00000264431:R371S	.|ENSP00000264431:R371S	A|R	+|+	1|3	0|2	RAPGEF2|RAPGEF2	160472252|160472252	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.119000|0.119000	0.20118|0.20118	3.919000|3.919000	0.56439|0.56439	1.274000|1.274000	0.44362|0.44362	0.467000|0.467000	0.42956|0.42956	GCT|AGG		0.388	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		9	93	1	0	0.00448238	1	0.00481618	9	93				
LVRN	206338	broad.mit.edu	37	5	115298804	115298804	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:115298804C>T	ENST00000357872.4	+	1	614	c.490C>T	c.(490-492)Ccg>Tcg	p.P164S	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		164						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										ACCCCTTTCCCCGGGCACTGG	0.667																																						ENST00000357872.4																			0											c.(490-492)Ccg>Tcg									23.0	26.0	25.0					5																	115298804		2202	4298	6500	SO:0001583	missense	206338				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115298804C>T																												ENST00000357872.4:c.490C>T	5.37:g.115298804C>T	ENSP00000350541:p.Pro164Ser					AQPEP_ENST00000395528.2_5'UTR	p.P164S	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN			1	614	+			164					A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	c.490C>T	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.428210	0.01117	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.02258	4.37	4.77	-3.8	0.04307	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.956599	0.08590	N	0.923166	T	0.01287	0.0042	N	0.16266	0.395	0.09310	N	0.999999	B	0.15473	0.013	B	0.12837	0.008	T	0.49322	-0.8952	10	0.08837	T	0.75	.	6.04	0.19728	0.0:0.2304:0.3112:0.4584	.	164	Q6Q4G3	AMPQ_HUMAN	S	164;153	ENSP00000350541:P164S	ENSP00000350541:P164S	P	+	1	0	AC010282.1	115326703	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.601000	0.05687	-0.746000	0.04766	-0.894000	0.02916	CCG		0.667	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			6	25	0	0	0	1	0	6	25				
OLFM4	10562	broad.mit.edu	37	13	53616047	53616047	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:53616047G>A	ENST00000219022.2	+	3	438	c.360G>A	c.(358-360)gtG>gtA	p.V120V		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	120					cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TCTTTCAGGTGAGGGAATATG	0.383																																						ENST00000219022.2																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39						c.(358-360)gtG>gtA		olfactomedin 4							68.0	67.0	67.0					13																	53616047		2203	4300	6503	SO:0001819	synonymous_variant	10562				cell adhesion	extracellular space		g.chr13:53616047G>A	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.360G>A	13.37:g.53616047G>A							p.V120V	NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	3	438	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	120					O95362|Q5VWG0|Q86T22	Silent	SNP	ENST00000219022.2	37	c.360G>A	CCDS9440.1																																																																																				0.383	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		9	31	0	0	0	1	0	9	31				
UGT2A3	79799	broad.mit.edu	37	4	69811145	69811145	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:69811145A>C	ENST00000251566.4	-	2	773	c.743T>G	c.(742-744)gTg>gGg	p.V248G	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	248					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGCTTTTCCCACAGTCTCACA	0.328																																						ENST00000251566.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(742-744)gTg>gGg		UDP glucuronosyltransferase 2 family, polypeptide A3							89.0	85.0	87.0					4																	69811145		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69811145A>C		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.743T>G	4.37:g.69811145A>C	ENSP00000251566:p.Val248Gly					UGT2A3_ENST00000420231.2_5'UTR	p.V248G	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN			2	773	-			248					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.743T>G	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	A	13.94	2.386257	0.42308	.	.	ENSG00000135220	ENST00000251566	T	0.61742	0.08	3.23	0.36	0.16097	.	0.304719	0.39274	N	0.001408	T	0.60340	0.2261	M	0.73598	2.24	0.80722	D	1	P	0.45078	0.85	P	0.48524	0.58	T	0.60561	-0.7239	10	0.87932	D	0	.	8.0962	0.30829	0.6004:0.3996:0.0:0.0	.	248	Q6UWM9	UD2A3_HUMAN	G	248	ENSP00000251566:V248G	ENSP00000251566:V248G	V	-	2	0	UGT2A3	69845734	1.000000	0.71417	0.059000	0.19551	0.731000	0.41821	5.411000	0.66386	-0.015000	0.14150	0.397000	0.26171	GTG		0.328	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		5	62	0	0	0	1	0	5	62				
TTN	7273	broad.mit.edu	37	2	179554032	179554032	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:179554032G>T	ENST00000591111.1	-	122	31269	c.31045C>A	c.(31045-31047)Cca>Aca	p.P10349T	TTN_ENST00000342992.6_Missense_Mutation_p.P9422T|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P10666T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGGTGGTGGAACTTCTTCC	0.378																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(31996-31998)Cca>Aca		titin							138.0	140.0	139.0					2																	179554032		1867	4097	5964	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179554032G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.31045C>A	2.37:g.179554032G>T	ENSP00000465570:p.Pro10349Thr					TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P9422T|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P10349T|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA	p.P10666T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		124	32220	-			10349			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.31996C>A		.	.	.	.	.	.	.	.	.	.	G	9.792	1.178154	0.21787	.	.	ENSG00000155657	ENST00000342992;ENST00000414766;ENST00000473181	T	0.77229	-1.08	3.9	3.9	0.45041	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	D	0.83220	0.5207	L	0.45352	1.415	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.981;0.998	D	0.84797	0.0782	9	0.87932	D	0	.	14.2233	0.65843	0.0:0.0:1.0:0.0	.	10349;10349	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	T	9422;544;149	ENSP00000343764:P9422T	ENSP00000343764:P9422T	P	-	1	0	TTN	179262277	0.918000	0.31147	0.993000	0.49108	0.906000	0.53458	3.632000	0.54287	2.485000	0.83878	0.585000	0.79938	CCA		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	41	1	0	2.17888e-05	1	2.58902e-05	9	41				
FCGBP	8857	broad.mit.edu	37	19	40433612	40433612	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:40433612G>A	ENST00000221347.6	-	2	664	c.657C>T	c.(655-657)ccC>ccT	p.P219P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	219	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGACAGCCACGGGGCTACTAG	0.582																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(655-657)ccC>ccT		Fc fragment of IgG binding protein							71.0	70.0	70.0					19																	40433612		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40433612G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.657C>T	19.37:g.40433612G>A							p.P219P	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	664	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		219			IgGFc-binding.		O95784	Silent	SNP	ENST00000221347.6	37	c.657C>T	CCDS12546.1																																																																																				0.582	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		17	86	0	0	0	1	0	17	86				
HIST1H2BF	8343	broad.mit.edu	37	6	26199862	26199862	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:26199862G>T	ENST00000359985.1	+	1	115	c.76G>T	c.(76-78)Gat>Tat	p.D26Y	HIST1H3D_ENST00000356476.2_5'Flank|HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	26					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				GCAGAAGAAGGATGGTAAGAA	0.532																																						ENST00000359985.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17						c.(76-78)Gat>Tat		histone cluster 1, H2bf							163.0	152.0	156.0					6																	26199862		2203	4300	6503	SO:0001583	missense	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26199862G>T	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"""Histones / Replication-dependent"""	4752	protein-coding gene	gene with protein product		602804	"""H2B histone family, member G"", ""histone 1, H2bf"""	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.76G>T	6.37:g.26199862G>T	ENSP00000353074:p.Asp26Tyr						p.D26Y	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN			1	115	+		all_hematologic(11;0.196)	26					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000359985.1	37	c.76G>T	CCDS4592.1	.	.	.	.	.	.	.	.	.	.	.	10.80	1.451457	0.26074	.	.	ENSG00000197846	ENST00000359985	T	0.22336	1.96	4.1	4.1	0.47936	.	0.000000	0.43416	D	0.000577	T	0.22589	0.0545	.	.	.	0.24514	N	0.994195	.	.	.	.	.	.	T	0.01858	-1.1259	7	0.87932	D	0	.	16.1741	0.81840	0.0:0.0:1.0:0.0	.	.	.	.	Y	26	ENSP00000353074:D26Y	ENSP00000353074:D26Y	D	+	1	0	HIST1H2BF	26307841	1.000000	0.71417	0.995000	0.50966	0.029000	0.11900	6.431000	0.73395	2.215000	0.71742	0.650000	0.86243	GAT		0.532	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522		14	184	1	0	9.31168e-06	1	1.13653e-05	14	184				
KRTAP19-3	337970	broad.mit.edu	37	21	31864074	31864074	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:31864074G>T	ENST00000334063.4	-	1	201	c.202C>A	c.(202-204)Cgc>Agc	p.R68S		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	68						intermediate filament (GO:0005882)				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						TATGATGGGCGGTAGCAGCCA	0.493																																						ENST00000334063.4																			0				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						c.(202-204)Cgc>Agc		keratin associated protein 19-3							139.0	148.0	145.0					21																	31864074		2203	4300	6503	SO:0001583	missense	337970					intermediate filament		g.chr21:31864074G>T	AP001708	CCDS13596.1	21q22.1	2011-02-10			ENSG00000244025	ENSG00000244025		"""Keratin associated proteins"""	18938	protein-coding gene	gene with protein product						12359730	Standard	NM_181609		Approved	KAP19.3	uc002yog.1	Q7Z4W3	OTTHUMG00000057782	ENST00000334063.4:c.202C>A	21.37:g.31864074G>T	ENSP00000386376:p.Arg68Ser						p.R68S	NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN			1	201	-			68						Missense_Mutation	SNP	ENST00000334063.4	37	c.202C>A	CCDS13596.1	.	.	.	.	.	.	.	.	.	.	G	9.242	1.038440	0.19669	.	.	ENSG00000244025	ENST00000334063	T	0.10763	2.84	5.2	-6.54	0.01860	.	0.398369	0.17848	U	0.159945	T	0.05456	0.0144	.	.	.	0.09310	N	1	B	0.14012	0.009	B	0.15052	0.012	T	0.21690	-1.0238	9	0.87932	D	0	.	2.4784	0.04581	0.4394:0.2039:0.2533:0.1034	.	68	Q7Z4W3	KR193_HUMAN	S	68	ENSP00000386376:R68S	ENSP00000386376:R68S	R	-	1	0	KRTAP19-3	30785945	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.508000	0.06344	-1.387000	0.02095	-0.143000	0.13931	CGC		0.493	KRTAP19-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128234.2			13	177	1	0	2.27111e-07	1	2.94552e-07	13	177				
GALNT2	2590	broad.mit.edu	37	1	230401079	230401079	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:230401079G>A	ENST00000366672.4	+	14	1478	c.1406G>A	c.(1405-1407)gGa>gAa	p.G469E	GALNT2_ENST00000541865.1_3'UTR|GALNT2_ENST00000543760.1_Missense_Mutation_p.G431E|GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.2_ENST00000440729.1_RNA	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	469	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGTGTGGTTGGAGTTTATGAA	0.532																																						ENST00000366672.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(1405-1407)gGa>gAa		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)							316.0	292.0	300.0					1																	230401079		2203	4300	6503	SO:0001583	missense	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230401079G>A	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1406G>A	1.37:g.230401079G>A	ENSP00000355632:p.Gly469Glu					GALNT2_ENST00000543760.1_Missense_Mutation_p.G431E|RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000541865.1_3'UTR	p.G469E	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN			14	1478	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	469			Ricin B-type lectin.		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	c.1406G>A	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062090	0.93846	.	.	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000543291	T;T	0.30981	1.51;1.51	5.34	5.34	0.76211	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	M	0.67517	2.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.57201	-0.7852	10	0.56958	D	0.05	.	19.0469	0.93025	0.0:0.0:1.0:0.0	.	469;431	Q10471;G3V1S6	GALT2_HUMAN;.	E	431;469;350	ENSP00000445017:G431E;ENSP00000355632:G469E	ENSP00000355632:G469E	G	+	2	0	GALNT2	228467702	1.000000	0.71417	0.917000	0.36280	0.995000	0.86356	9.848000	0.99507	2.497000	0.84241	0.561000	0.74099	GGA		0.532	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		45	240	0	0	0	1	0	45	240				
NFKBIE	4794	broad.mit.edu	37	6	44229546	44229546	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:44229546C>T	ENST00000275015.5	-	3	924	c.925G>A	c.(925-927)Gca>Aca	p.A309T		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	309					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCCCGAACTGCGCCCGGTTGG	0.632																																						ENST00000275015.5																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10						c.(925-927)Gca>Aca		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon							26.0	27.0	27.0					6																	44229546		2203	4300	6503	SO:0001583	missense	4794				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:44229546C>T	U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"""Ankyrin repeat domain containing"""	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.925G>A	6.37:g.44229546C>T	ENSP00000275015:p.Ala309Thr						p.A309T	NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	924	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		309					Q5T9V9	Missense_Mutation	SNP	ENST00000275015.5	37	c.925G>A	CCDS34463.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233509	0.39498	.	.	ENSG00000146232	ENST00000275015	T	0.65732	-0.17	5.28	1.85	0.25348	Ankyrin repeat-containing domain (3);	0.370111	0.27636	N	0.018483	T	0.22399	0.0540	N	0.25060	0.705	0.26370	N	0.976906	B	0.24882	0.113	B	0.13407	0.009	T	0.15464	-1.0436	10	0.28530	T	0.3	-25.5366	9.7691	0.40578	0.0:0.6698:0.0:0.3302	.	309	O00221	IKBE_HUMAN	T	309	ENSP00000275015:A309T	ENSP00000275015:A309T	A	-	1	0	NFKBIE	44337524	0.832000	0.29368	0.072000	0.20136	0.982000	0.71751	1.648000	0.37271	0.519000	0.28406	0.655000	0.94253	GCA		0.632	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040733.2			3	21	0	0	0	1	0	3	21				
NCAN	1463	broad.mit.edu	37	19	19338428	19338428	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:19338428G>T	ENST00000252575.6	+	8	2098	c.1999G>T	c.(1999-2001)Gct>Tct	p.A667S	NCAN_ENST00000538881.1_Missense_Mutation_p.A118S	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	667					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CACCGCCACGGCTCCACCCTC	0.617																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(1999-2001)Gct>Tct		neurocan							93.0	96.0	95.0					19																	19338428		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19338428G>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1999G>T	19.37:g.19338428G>T	ENSP00000252575:p.Ala667Ser					NCAN_ENST00000538881.1_Missense_Mutation_p.A118S	p.A667S	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	2042	+			667					Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.1999G>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	g	8.635	0.894652	0.17613	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.85484	-1.79;-1.99	4.4	-3.6	0.04570	.	1.905200	0.02946	N	0.141160	T	0.66829	0.2829	N	0.24115	0.695	0.09310	N	1	B;B	0.26744	0.158;0.004	B;B	0.15870	0.014;0.01	T	0.58567	-0.7614	10	0.06891	T	0.86	.	1.1149	0.01712	0.3603:0.1301:0.3498:0.1598	.	681;667	Q4LE67;O14594	.;NCAN_HUMAN	S	681;667;118	ENSP00000252575:A667S;ENSP00000442202:A118S	ENSP00000252575:A667S	A	+	1	0	NCAN	19199428	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.176000	0.09811	-0.612000	0.05701	-0.217000	0.12591	GCT		0.617	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		8	123	1	0	2.17888e-05	1	2.58902e-05	8	123				
KIR3DL1	3811	broad.mit.edu	37	19	55340877	55340877	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:55340877C>A	ENST00000391728.4	+	7	1095	c.1062C>A	c.(1060-1062)ctC>ctA	p.L354L	KIR3DL1_ENST00000538269.1_Silent_p.L354L|KIR3DL1_ENST00000541392.1_Silent_p.L337L|KIR3DL1_ENST00000326542.7_Silent_p.L337L|KIR3DL1_ENST00000358178.4_Silent_p.L259L|KIR3DL1_ENST00000402254.2_Intron	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	354					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		tcttcatcctcctcctcttct	0.512																																						ENST00000391728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1060-1062)ctC>ctA		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1							240.0	181.0	201.0					19																	55340877		2174	4159	6333	SO:0001819	synonymous_variant	3811							g.chr19:55340877C>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1062C>A	19.37:g.55340877C>A						KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Silent_p.L337L|KIR3DL1_ENST00000358178.4_Silent_p.L259L|KIR3DL1_ENST00000326542.7_Silent_p.L337L|KIR3DL1_ENST00000538269.1_Silent_p.L354L	p.L354L	NM_013289.2	NP_037421.2				GBM - Glioblastoma multiforme(193;0.0192)	7	1095	+								O43473|Q14946|Q16541	Silent	SNP	ENST00000391728.4	37	c.1062C>A	CCDS42621.1																																																																																				0.512	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		13	127	1	0	1.52009e-12	1	2.2454e-12	13	127				
ENTHD2	146705	broad.mit.edu	37	17	79205454	79205454	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:79205454A>T	ENST00000300714.3	-	9	796	c.739T>A	c.(739-741)Ttg>Atg	p.L247M	ENTHD2_ENST00000374769.2_Missense_Mutation_p.L163M|AC027601.1_ENST00000575922.1_RNA|AC027601.1_ENST00000569559.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	247						cytoplasmic vesicle (GO:0031410)											ACCAAGCTCAACTCCTGCTGA	0.657																																						ENST00000374769.2																			0											c.(487-489)Ttg>Atg		ENTH domain containing 2							37.0	33.0	34.0					17																	79205454		2203	4300	6503	SO:0001583	missense	146705							g.chr17:79205454A>T	AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 56"""	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.739T>A	17.37:g.79205454A>T	ENSP00000300714:p.Leu247Met					ENTHD2_ENST00000300714.3_Missense_Mutation_p.L247M|AC027601.1_ENST00000569559.1_RNA|AC027601.1_ENST00000575922.1_RNA	p.L163M							10	964	-								Q6ZQU0|Q6ZSQ9	Missense_Mutation	SNP	ENST00000300714.3	37	c.487T>A	CCDS11779.1	.	.	.	.	.	.	.	.	.	.	A	10.61	1.397856	0.25205	.	.	ENSG00000167302	ENST00000300714;ENST00000374769	T;T	0.24350	1.86;1.86	4.79	-1.19	0.09585	.	0.713371	0.13767	N	0.364156	T	0.13884	0.0336	N	0.25144	0.715	0.24222	N	0.99543	B;P	0.39022	0.04;0.655	B;B	0.40677	0.02;0.337	T	0.16424	-1.0403	10	0.28530	T	0.3	-5.172	3.3701	0.07217	0.2512:0.3391:0.3232:0.0865	.	247;163	Q96N21;Q96N21-2	CQ056_HUMAN;.	M	247;163	ENSP00000300714:L247M;ENSP00000363901:L163M	ENSP00000300714:L247M	L	-	1	2	C17orf56	76820049	0.972000	0.33761	0.812000	0.32479	0.029000	0.11900	0.127000	0.15790	-0.036000	0.13669	-1.017000	0.02453	TTG		0.657	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439315.1	NM_144679		4	34	0	0	0	1	0	4	34				
USP26	83844	broad.mit.edu	37	X	132159731	132159731	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:132159731C>A	ENST00000511190.1	-	6	2987	c.2518G>T	c.(2518-2520)Ggc>Tgc	p.G840C	USP26_ENST00000406273.1_Missense_Mutation_p.G840C|USP26_ENST00000370832.1_Missense_Mutation_p.G840C	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	840	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ATATAATGGCCTGACTTTAGA	0.433																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(2518-2520)Ggc>Tgc		ubiquitin specific peptidase 26							157.0	136.0	143.0					X																	132159731		2203	4300	6503	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132159731C>A	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.2518G>T	X.37:g.132159731C>A	ENSP00000423390:p.Gly840Cys					USP26_ENST00000370832.1_Missense_Mutation_p.G840C|USP26_ENST00000406273.1_Missense_Mutation_p.G840C	p.G840C	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	2987	-	Acute lymphoblastic leukemia(192;0.000127)		840					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.2518G>T	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755580	0.69648	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	D;D;D	0.97505	-4.41;-4.41;-4.41	3.91	3.91	0.45181	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.37219	N	0.002187	D	0.97974	0.9333	M	0.74881	2.28	0.44359	D	0.997258	D	0.76494	0.999	D	0.83275	0.996	D	0.98325	1.0530	10	0.87932	D	0	-10.4039	12.8624	0.57922	0.0:1.0:0.0:0.0	.	840	Q9BXU7	UBP26_HUMAN	C	840	ENSP00000359869:G840C;ENSP00000423390:G840C;ENSP00000384360:G840C	ENSP00000359869:G840C	G	-	1	0	USP26	131987397	1.000000	0.71417	0.997000	0.53966	0.891000	0.51852	6.469000	0.73555	2.193000	0.70182	0.513000	0.50165	GGC		0.433	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		17	39	1	0	8.60227e-14	1	1.29676e-13	17	39				
LY9	4063	broad.mit.edu	37	1	160784328	160784328	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:160784328G>A	ENST00000263285.6	+	4	879	c.849G>A	c.(847-849)ttG>ttA	p.L283L	LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Silent_p.L243L|LY9_ENST00000368037.5_Silent_p.L283L|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000341032.4_Silent_p.L283L|LY9_ENST00000392203.4_Silent_p.L283L			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	283	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTGTCTGGTTGTTTAACACAT	0.542																																						ENST00000263285.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(847-849)ttG>ttA		lymphocyte antigen 9							109.0	98.0	102.0					1																	160784328		2203	4300	6503	SO:0001819	synonymous_variant	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160784328G>A	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.849G>A	1.37:g.160784328G>A						LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368041.2_Silent_p.L243L|LY9_ENST00000368035.1_5'UTR|LY9_ENST00000341032.4_Silent_p.L283L	p.L283L	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		4	879	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		283			Ig-like V-type 2.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Silent	SNP	ENST00000263285.6	37	c.849G>A	CCDS30916.1																																																																																				0.542	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		13	96	0	0	0	1	0	13	96				
CAGE1	285782	broad.mit.edu	37	6	7365751	7365751	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:7365751C>A	ENST00000512086.1	-	8	2264	c.2062G>T	c.(2062-2064)Gga>Tga	p.G688*	CAGE1_ENST00000379918.4_Nonsense_Mutation_p.G693*|CAGE1_ENST00000338150.4_Nonsense_Mutation_p.G715*|CAGE1_ENST00000502583.1_Nonsense_Mutation_p.G715*|CAGE1_ENST00000296742.7_Nonsense_Mutation_p.G552*			Q8TC20	CAGE1_HUMAN	cancer antigen 1	688										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					AGTTTGGCTCCCAGAAGGGTA	0.348																																						ENST00000502583.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19						c.(2143-2145)Gga>Tga		cancer antigen 1							125.0	123.0	123.0					6																	7365751		1865	4092	5957	SO:0001587	stop_gained	285782							g.chr6:7365751C>A	BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.2062G>T	6.37:g.7365751C>A	ENSP00000427583:p.Gly688*					CAGE1_ENST00000338150.4_Nonsense_Mutation_p.G715*|CAGE1_ENST00000379918.4_Nonsense_Mutation_p.G693*|CAGE1_ENST00000296742.7_Nonsense_Mutation_p.G552*|CAGE1_ENST00000512086.1_Nonsense_Mutation_p.G688*	p.G715*	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN			9	2707	-	Ovarian(93;0.0418)		688					D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Nonsense_Mutation	SNP	ENST00000512086.1	37	c.2143G>T		.	.	.	.	.	.	.	.	.	.	C	37	6.201131	0.97371	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150	.	.	.	5.5	2.63	0.31362	.	0.340870	0.25347	N	0.031328	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-6.6718	6.4487	0.21892	0.0:0.6933:0.1514:0.1553	.	.	.	.	X	688;693;715;552;688;715	.	ENSP00000296742:G552X	G	-	1	0	CAGE1	7310750	0.236000	0.23804	0.963000	0.40424	0.272000	0.26649	0.538000	0.23160	0.672000	0.31204	0.563000	0.77884	GGA		0.348	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745		3	23	1	0	0.115264	1	0.117444	3	23				
OR4Q3	441669	broad.mit.edu	37	14	20215695	20215695	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:20215695G>T	ENST00000331723.1	+	1	109	c.109G>T	c.(109-111)Gct>Tct	p.A37S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTTTACATTGCTATTGTCCT	0.383																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(109-111)Gct>Tct		olfactory receptor, family 4, subfamily Q, member 3							179.0	183.0	182.0					14																	20215695		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215695G>T	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.109G>T	14.37:g.20215695G>T	ENSP00000330049:p.Ala37Ser						p.A37S	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	109	+	all_cancers(95;0.00108)		37					Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.109G>T	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	6.732	0.503760	0.12822	.	.	ENSG00000182652	ENST00000331723	T	0.00441	7.41	4.32	2.47	0.30058	.	0.597845	0.13510	U	0.382552	T	0.00328	0.0010	L	0.46819	1.47	0.09310	N	1	B	0.19200	0.034	B	0.19946	0.027	T	0.40683	-0.9550	10	0.44086	T	0.13	.	6.0988	0.20035	0.3206:0.0:0.6794:0.0	.	37	Q8NH05	OR4Q3_HUMAN	S	37	ENSP00000330049:A37S	ENSP00000330049:A37S	A	+	1	0	OR4Q3	19285535	0.000000	0.05858	0.005000	0.12908	0.872000	0.50106	-0.228000	0.09114	0.459000	0.27016	0.509000	0.49947	GCT		0.383	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			11	247	1	0	0.000978159	1	0.00108714	11	247				
GLI3	2737	broad.mit.edu	37	7	42004735	42004735	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:42004735C>A	ENST00000395925.3	-	15	4020	c.3936G>T	c.(3934-3936)atG>atT	p.M1312I	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1312					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CCTGGTTCTGCATGCCATTCA	0.647									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(3934-3936)atG>atT		GLI family zinc finger 3							38.0	38.0	38.0					7																	42004735		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42004735C>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3936G>T	7.37:g.42004735C>A	ENSP00000379258:p.Met1312Ile					GLI3_ENST00000479210.1_5'UTR	p.M1312I	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	4020	-			1312					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3936G>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984146	0.35036	.	.	ENSG00000106571	ENST00000395925	T	0.12672	2.66	5.65	0.466	0.16716	.	1.213320	0.05118	N	0.490070	T	0.09335	0.0230	N	0.22421	0.69	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.37888	-0.9686	10	0.22109	T	0.4	.	6.4429	0.21859	0.0:0.5222:0.2168:0.261	.	1312	P10071	GLI3_HUMAN	I	1312	ENSP00000379258:M1312I	ENSP00000379258:M1312I	M	-	3	0	GLI3	41971260	0.974000	0.33945	0.007000	0.13788	0.806000	0.45545	0.134000	0.15932	0.320000	0.23234	0.655000	0.94253	ATG		0.647	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		9	54	1	0	0.00448238	1	0.00481618	9	54				
CAPN13	92291	broad.mit.edu	37	2	30987150	30987150	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:30987150G>C	ENST00000295055.8	-	6	723	c.547C>G	c.(547-549)Ctg>Gtg	p.L183V	CAPN13_ENST00000534090.2_Missense_Mutation_p.L183V|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	183	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CCATAGTGCAGATCGGAATAG	0.582																																						ENST00000295055.8																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.(547-549)Ctg>Gtg		calpain 13							53.0	54.0	53.0					2																	30987150		2101	4215	6316	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30987150G>C		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.547C>G	2.37:g.30987150G>C	ENSP00000295055:p.Leu183Val					CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.L183V	p.L183V	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN			6	723	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		183			Calpain catalytic.		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.547C>G	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822271	0.50739	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.92446	-3.04;-3.04	5.22	2.35	0.29111	Peptidase C2, calpain, catalytic domain (3);	0.055320	0.64402	D	0.000001	D	0.95787	0.8629	H	0.94734	3.575	0.47407	D	0.999414	D	0.63880	0.993	P	0.60286	0.872	D	0.95088	0.8219	10	0.87932	D	0	.	8.0663	0.30663	0.3235:0.0:0.6764:0.0	.	183	Q6MZZ7	CAN13_HUMAN	V	183	ENSP00000295055:L183V;ENSP00000431298:L183V	ENSP00000295055:L183V	L	-	1	2	CAPN13	30840654	0.769000	0.28531	0.953000	0.39169	0.240000	0.25518	1.102000	0.31050	1.167000	0.42706	0.462000	0.41574	CTG		0.582	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		5	36	0	0	0	1	0	5	36				
BRPF1	7862	broad.mit.edu	37	3	9781399	9781399	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:9781399G>A	ENST00000457855.1	+	2	1327	c.1316G>A	c.(1315-1317)cGc>cAc	p.R439H	BRPF1_ENST00000383829.2_Missense_Mutation_p.R439H|BRPF1_ENST00000424362.1_Missense_Mutation_p.R439H|BRPF1_ENST00000433861.2_Missense_Mutation_p.R439H|BRPF1_ENST00000302054.3_Missense_Mutation_p.R439H			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	439					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TTCAGTGTCCGCAAGACAGCC	0.602																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(1315-1317)cGc>cAc		bromodomain and PHD finger containing, 1							53.0	49.0	51.0					3																	9781399		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9781399G>A	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1316G>A	3.37:g.9781399G>A	ENSP00000410210:p.Arg439His					BRPF1_ENST00000433861.2_Missense_Mutation_p.R439H|BRPF1_ENST00000424362.1_Missense_Mutation_p.R439H|BRPF1_ENST00000457855.1_Missense_Mutation_p.R439H|BRPF1_ENST00000302054.3_Missense_Mutation_p.R439H	p.R439H	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			3	1720	+	Medulloblastoma(99;0.227)		439					B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.1316G>A	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	G	31	5.067803	0.93950	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5	6.04	6.04	0.98038	Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.43166	0.1235	M	0.77486	2.375	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.83275	0.993;0.983;0.975;0.996	T	0.14254	-1.0479	10	0.62326	D	0.03	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	439;439;439;439	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	H	439	ENSP00000402485:R439H;ENSP00000398863:R439H;ENSP00000373340:R439H;ENSP00000306297:R439H;ENSP00000410210:R439H	ENSP00000306297:R439H	R	+	2	0	BRPF1	9756399	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.600000	0.82769	2.873000	0.98535	0.561000	0.74099	CGC		0.602	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		6	30	0	0	0	1	0	6	30				
AGBL2	79841	broad.mit.edu	37	11	47712256	47712256	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:47712256C>A	ENST00000525123.1	-	10	1288	c.1003G>T	c.(1003-1005)Ggg>Tgg	p.G335W	AGBL2_ENST00000528244.1_Missense_Mutation_p.G297W|AGBL2_ENST00000357610.3_Missense_Mutation_p.G335W|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.G335W	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	335						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GGCTTCATCCCTACAGTATAA	0.428																																						ENST00000525123.1																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						c.(1003-1005)Ggg>Tgg		ATP/GTP binding protein-like 2							135.0	132.0	133.0					11																	47712256		2201	4298	6499	SO:0001583	missense	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47712256C>A		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.1003G>T	11.37:g.47712256C>A	ENSP00000435582:p.Gly335Trp					AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Missense_Mutation_p.G335W|AGBL2_ENST00000528244.1_Missense_Mutation_p.G297W|AGBL2_ENST00000298861.4_Missense_Mutation_p.G335W	p.G335W	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN			10	1288	-			335					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	c.1003G>T	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250338	0.59212	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.73567	0.3603	H	0.95365	3.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.81562	-0.0876	10	0.87932	D	0	-24.6531	19.8635	0.96793	0.0:1.0:0.0:0.0	.	297;297;335	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	W	335;335;335;297;279	ENSP00000435582:G335W;ENSP00000350228:G335W;ENSP00000298861:G335W;ENSP00000436630:G297W;ENSP00000436063:G279W	ENSP00000298861:G335W	G	-	1	0	AGBL2	47668832	1.000000	0.71417	0.314000	0.25224	0.280000	0.26924	7.300000	0.78841	2.700000	0.92200	0.650000	0.86243	GGG		0.428	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		22	134	1	0	7.33532e-06	1	8.99384e-06	22	134				
EP400	57634	broad.mit.edu	37	12	132547186	132547186	+	Silent	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:132547186A>G	ENST00000333577.4	+	48	8491	c.8382A>G	c.(8380-8382)ccA>ccG	p.P2794P	EP400_ENST00000330386.6_Silent_p.P2677P|EP400_ENST00000332482.4_Silent_p.P2721P|EP400_ENST00000389561.2_Silent_p.P2758P|EP400_ENST00000389562.2_Silent_p.P2757P			Q96L91	EP400_HUMAN	E1A binding protein p400	2794					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGCAAGTTCCACAGATCCAGG	0.602																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8380-8382)ccA>ccG		E1A binding protein p400							88.0	71.0	77.0					12																	132547186		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547186A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8382A>G	12.37:g.132547186A>G						EP400_ENST00000330386.6_Silent_p.P2677P|EP400_ENST00000332482.4_Silent_p.P2721P|EP400_ENST00000389562.2_Silent_p.P2757P|EP400_ENST00000389561.2_Silent_p.P2758P	p.P2794P			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8491	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2794					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8382A>G																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		8	57	0	0	0	1	0	8	57				
FNBP4	23360	broad.mit.edu	37	11	47786823	47786823	+	Splice_Site	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:47786823T>C	ENST00000263773.5	-	2	324	c.312A>G	c.(310-312)acA>acG	p.T104T	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	104						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						AAAGCATACCTGTTGCTTTAA	0.393																																						ENST00000263773.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.e2+1		formin binding protein 4							242.0	239.0	240.0					11																	47786823		1847	4089	5936	SO:0001630	splice_region_variant	23360							g.chr11:47786823T>C	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.313+1A>G	11.37:g.47786823T>C						FNBP4_ENST00000534003.1_5'UTR	p.T104_splice	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			2	324	-			104					Q9H985|Q9NT81|Q9Y2L7	Splice_Site	SNP	ENST00000263773.5	37	c.313_splice	CCDS41644.1																																																																																				0.393	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3		Silent	27	199	0	0	0	1	0	27	199				
TCN1	6947	broad.mit.edu	37	11	59620758	59620758	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:59620758G>C	ENST00000257264.3	-	8	1262	c.1158C>G	c.(1156-1158)atC>atG	p.I386M	TCN1_ENST00000532419.1_5'Flank	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	386	Globular C-terminal beta domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAATACAGGTGATATAGGGCC	0.488																																						ENST00000257264.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1156-1158)atC>atG		transcobalamin I (vitamin B12 binding protein, R binder family)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						128.0	127.0	127.0					11																	59620758		2201	4295	6496	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59620758G>C	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.1158C>G	11.37:g.59620758G>C	ENSP00000257264:p.Ile386Met						p.I386M	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN			8	1262	-		all_epithelial(135;0.198)	386					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.1158C>G	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905030	0.52333	.	.	ENSG00000134827	ENST00000257264	T	0.39406	1.08	5.21	3.35	0.38373	.	0.104837	0.40144	N	0.001180	T	0.55924	0.1951	M	0.72118	2.19	0.25162	N	0.990348	D	0.64830	0.994	P	0.61940	0.896	T	0.49341	-0.8950	10	0.72032	D	0.01	.	8.0026	0.30306	0.1884:0.0:0.8116:0.0	.	386	P20061	TCO1_HUMAN	M	386	ENSP00000257264:I386M	ENSP00000257264:I386M	I	-	3	3	TCN1	59377334	1.000000	0.71417	0.981000	0.43875	0.801000	0.45260	3.179000	0.50887	0.590000	0.29694	0.650000	0.86243	ATC		0.488	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		17	150	0	0	0	1	0	17	150				
XIST	7503	broad.mit.edu	37	X	73064751	73064751	+	lincRNA	SNP	G	G	C	rs377380022		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:73064751G>C	ENST00000429829.1	-	0	7837					NR_001564.2				X inactive specific transcript (non-protein coding)																		CCTGCCAGAAGGGAAAGGAAG	0.493																																						ENST00000429829.1																			0																				92.0	89.0	90.0					X																	73064751		876	1991	2867			7503							g.chrX:73064751G>C	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73064751G>C								NR_001564.2						0	7837	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.493	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		9	47	0	0	0	1	0	9	47				
FAM21EP	100421577	broad.mit.edu	37	10	51821254	51821254	+	RNA	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:51821254T>A	ENST00000456967.1	-	0	1380					NR_038275.1																						ATCCTCATCATCAAAGAGCCC	0.552																																						ENST00000456967.1																			0																																																			100421577							g.chr10:51821254T>A																													10.37:g.51821254T>A								NR_038275.1						0	1380	-									RNA	SNP	ENST00000456967.1	37																																																																																						0.552	RP11-324H6.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000048059.1			12	122	0	0	0	1	0	12	122				
TMEM202	338949	broad.mit.edu	37	15	72698952	72698952	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:72698952A>T	ENST00000341689.3	+	3	401	c.347A>T	c.(346-348)cAa>cTa	p.Q116L	TMEM202_ENST00000567679.1_Missense_Mutation_p.N31Y	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	116						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						GATTATCTCCAATATTCCAGG	0.458																																						ENST00000341689.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(346-348)cAa>cTa		transmembrane protein 202							168.0	148.0	155.0					15																	72698952		2199	4297	6496	SO:0001583	missense	338949					integral to membrane		g.chr15:72698952A>T		CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.347A>T	15.37:g.72698952A>T	ENSP00000340212:p.Gln116Leu					TMEM202_ENST00000567679.1_Missense_Mutation_p.N31Y	p.Q116L	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN			3	401	+			116						Missense_Mutation	SNP	ENST00000341689.3	37	c.347A>T	CCDS32287.1	.	.	.	.	.	.	.	.	.	.	A	13.66	2.304968	0.40795	.	.	ENSG00000187806	ENST00000341689	T	0.50813	0.73	5.42	3.06	0.35304	.	0.287949	0.25566	N	0.029796	T	0.43411	0.1246	M	0.63843	1.955	0.19945	N	0.999948	B	0.19073	0.033	B	0.22601	0.04	T	0.44112	-0.9349	10	0.72032	D	0.01	-9.7652	8.0311	0.30465	0.6734:0.0:0.0:0.3266	.	116	A6NGA9	TM202_HUMAN	L	116	ENSP00000340212:Q116L	ENSP00000340212:Q116L	Q	+	2	0	TMEM202	70486006	0.850000	0.29656	0.530000	0.27963	0.896000	0.52359	1.402000	0.34600	0.463000	0.27118	-0.336000	0.08194	CAA		0.458	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435756.1	NM_001080462		10	62	0	0	0	1	0	10	62				
DPT	1805	broad.mit.edu	37	1	168698251	168698251	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:168698251C>A	ENST00000367817.3	-	1	251	c.162G>T	c.(160-162)caG>caT	p.Q54H		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	54	2 X 53-55 AA tandem repeats.				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CCACTATCACCTGCCCCTGGG	0.552																																						ENST00000367817.3																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12						c.(160-162)caG>caT		dermatopontin							120.0	96.0	104.0					1																	168698251		2203	4300	6503	SO:0001583	missense	1805				cell adhesion	extracellular space|proteinaceous extracellular matrix		g.chr1:168698251C>A	BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.162G>T	1.37:g.168698251C>A	ENSP00000356791:p.Gln54His						p.Q54H	NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN			1	251	-	all_hematologic(923;0.208)		54			2 X 53-55 AA tandem repeats.		A8K981|Q8N4R2|Q9UIX8	Missense_Mutation	SNP	ENST00000367817.3	37	c.162G>T	CCDS1275.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693583	0.68386	.	.	ENSG00000143196	ENST00000367817	T	0.52057	0.68	5.19	4.26	0.50523	.	0.052773	0.85682	D	0.000000	T	0.49253	0.1546	M	0.63843	1.955	0.40591	D	0.981483	D	0.64830	0.994	P	0.62740	0.906	T	0.58014	-0.7711	9	0.66056	D	0.02	-9.5665	9.9531	0.41651	0.0:0.8306:0.0:0.1694	.	54	Q07507	DERM_HUMAN	H	54	ENSP00000356791:Q54H	ENSP00000356791:Q54H	Q	-	3	2	DPT	166964875	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.878000	0.39608	1.136000	0.42199	0.655000	0.94253	CAG		0.552	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083618.1	NM_001937		12	72	1	0	6.40141e-05	1	7.46369e-05	12	72				
NLN	57486	broad.mit.edu	37	5	65054573	65054573	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:65054573C>T	ENST00000380985.5	+	2	399	c.221C>T	c.(220-222)gCt>gTt	p.A74V	NLN_ENST00000502464.1_Intron	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	74						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		GTGTACGATGCTGTTGGAATG	0.443																																						ENST00000380985.5																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(220-222)gCt>gTt		neurolysin (metallopeptidase M3 family)							134.0	119.0	124.0					5																	65054573		2203	4300	6503	SO:0001583	missense	57486				proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	g.chr5:65054573C>T	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.221C>T	5.37:g.65054573C>T	ENSP00000370372:p.Ala74Val					NLN_ENST00000502464.1_Intron	p.A74V	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)	2	399	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	74					Q9ULJ4	Missense_Mutation	SNP	ENST00000380985.5	37	c.221C>T	CCDS3989.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906713	0.33628	.	.	ENSG00000123213	ENST00000380985;ENST00000340159	T	0.09445	2.98	5.5	3.71	0.42584	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.398662	0.27735	N	0.018075	T	0.09247	0.0228	L	0.47016	1.485	0.24093	N	0.995905	B;B	0.14805	0.0;0.011	B;B	0.06405	0.001;0.002	T	0.27157	-1.0082	10	0.41790	T	0.15	-0.0093	5.2092	0.15307	0.2343:0.5044:0.1934:0.0679	.	74;74	Q9BYT8;Q9BQD0	NEUL_HUMAN;.	V	74	ENSP00000370372:A74V	ENSP00000339283:A74V	A	+	2	0	NLN	65090329	0.000000	0.05858	0.893000	0.35052	0.972000	0.66771	0.059000	0.14322	0.690000	0.31570	0.655000	0.94253	GCT		0.443	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			7	115	0	0	0	1	0	7	115				
SEC16B	89866	broad.mit.edu	37	1	177909766	177909766	+	Silent	SNP	C	C	T	rs34633883		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:177909766C>T	ENST00000308284.6	-	17	2195	c.2106G>A	c.(2104-2106)gcG>gcA	p.A702A	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	702					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TCCGAAGTTGCGCTAGCCAAT	0.567																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(2104-2106)gcG>gcA		SEC16 homolog B (S. cerevisiae)							40.0	51.0	47.0					1																	177909766		2154	4262	6416	SO:0001819	synonymous_variant	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177909766C>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2106G>A	1.37:g.177909766C>T						RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	p.A702A	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			17	2195	-			702					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	37	c.2106G>A	CCDS44281.1																																																																																				0.567	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		4	25	0	0	0	1	0	4	25				
KDM6A	7403	broad.mit.edu	37	X	44929079	44929079	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:44929079G>T	ENST00000377967.4	+	17	2220	c.2179G>T	c.(2179-2181)Gtg>Ttg	p.V727L	KDM6A_ENST00000536777.1_Missense_Mutation_p.V682L|KDM6A_ENST00000382899.4_Missense_Mutation_p.V734L|KDM6A_ENST00000543216.1_Missense_Mutation_p.V648L	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	727	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CATATTGACGGTGCCTGAAAC	0.507			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(2179-2181)Gtg>Ttg		lysine (K)-specific demethylase 6A							102.0	72.0	82.0					X																	44929079		2203	4300	6503	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44929079G>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2179G>T	X.37:g.44929079G>T	ENSP00000367203:p.Val727Leu					KDM6A_ENST00000543216.1_Missense_Mutation_p.V648L|KDM6A_ENST00000536777.1_Missense_Mutation_p.V682L|KDM6A_ENST00000382899.4_Missense_Mutation_p.V734L	p.V727L	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			17	2220	+			727					Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.2179G>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.883|9.883	1.202160|1.202160	0.22121|0.22121	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000414389;ENST00000433797|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.|T;T;T;T	.|0.45668	.|0.89;0.89;0.89;0.89	4.82|4.82	2.01|2.01	0.26516|0.26516	.|.	.|0.472486	.|0.22166	.|N	.|0.063710	T|T	0.33323|0.33323	0.0859|0.0859	L|L	0.53249|0.53249	1.67|1.67	0.35420|0.35420	D|D	0.793182|0.793182	.|B;B;B;B;B;B	.|0.06786	.|0.0;0.0;0.0;0.0;0.001;0.0	.|B;B;B;B;B;B	.|0.04013	.|0.0;0.001;0.001;0.001;0.001;0.001	T|T	0.21314|0.21314	-1.0249|-1.0249	5|10	.|0.36615	.|T	.|0.2	3.0515|3.0515	6.5309|6.5309	0.22326|0.22326	0.0739:0.126:0.6666:0.1334|0.0739:0.126:0.6666:0.1334	.|.	.|366;734;682;779;693;727	.|B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.|.;.;.;.;.;KDM6A_HUMAN	V|L	324;369|424;727;682;734;648	.|ENSP00000367203:V727L;ENSP00000437405:V682L;ENSP00000372355:V734L;ENSP00000443078:V648L	.|ENSP00000334340:V424L	G|V	+|+	2|1	0|0	KDM6A|KDM6A	44814023|44814023	1.000000|1.000000	0.71417|0.71417	0.237000|0.237000	0.24090|0.24090	0.932000|0.932000	0.56968|0.56968	4.573000|4.573000	0.60893|0.60893	0.064000|0.064000	0.16427|0.16427	-0.222000|-0.222000	0.12452|0.12452	GGT|GTG		0.507	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		3	22	1	0	0.004672	1	0.00498676	3	22				
XAB2	56949	broad.mit.edu	37	19	7688636	7688636	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:7688636T>A	ENST00000358368.4	-	8	1137	c.1100A>T	c.(1099-1101)cAc>cTc	p.H367L	XAB2_ENST00000534844.1_Missense_Mutation_p.H364L	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	367					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GCGGCCCTGGTGCAGGGCGAC	0.647								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1099-1101)cAc>cTc	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							53.0	56.0	55.0					19																	7688636		2203	4299	6502	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7688636T>A	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1100A>T	19.37:g.7688636T>A	ENSP00000351137:p.His367Leu					XAB2_ENST00000534844.1_Missense_Mutation_p.H364L	p.H367L	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			8	1137	-			367					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.1100A>T	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	T	16.96	3.266256	0.59540	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.32753	1.44;1.44	4.86	3.83	0.44106	Tetratricopeptide-like helical (1);	0.209202	0.37715	N	0.001979	T	0.14227	0.0344	N	0.03608	-0.345	0.41473	D	0.988119	B	0.02656	0.0	B	0.08055	0.003	T	0.04900	-1.0919	10	0.66056	D	0.02	-43.5293	9.5687	0.39414	0.0:0.0861:0.0:0.9139	.	367	Q9HCS7	SYF1_HUMAN	L	367;364	ENSP00000351137:H367L;ENSP00000438225:H364L	ENSP00000351137:H367L	H	-	2	0	XAB2	7594636	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	5.607000	0.67648	0.703000	0.31848	0.482000	0.46254	CAC		0.647	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		11	51	0	0	0	1	0	11	51				
CD200R1	131450	broad.mit.edu	37	3	112642541	112642541	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:112642541C>T	ENST00000471858.1	-	7	1193	c.961G>A	c.(961-963)Gac>Aac	p.D321N	CD200R1_ENST00000295863.4_3'UTR|CD200R1_ENST00000308611.3_Missense_Mutation_p.D344N	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	321					regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GTATGGAGGTCTGTGTCAACT	0.378																																						ENST00000471858.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						c.(961-963)Gac>Aac		CD200 receptor 1							180.0	162.0	168.0					3																	112642541		2203	4300	6503	SO:0001583	missense	131450				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr3:112642541C>T	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.961G>A	3.37:g.112642541C>T	ENSP00000418928:p.Asp321Asn					CD200R1_ENST00000308611.3_Missense_Mutation_p.D344N|CD200R1_ENST00000295863.4_3'UTR	p.D321N	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN			7	1193	-			321					B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	c.961G>A	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	C	6.394	0.440855	0.12104	.	.	ENSG00000163606	ENST00000471858;ENST00000308611	T;T	0.15603	2.41;2.46	4.57	-0.608	0.11611	.	5.419430	0.01205	U	0.007699	T	0.07863	0.0197	N	0.04880	-0.145	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.21280	-1.0250	10	0.15952	T	0.53	.	3.6364	0.08150	0.1681:0.4277:0.0:0.4042	.	321;344	Q8TD46;Q8TD46-4	MO2R1_HUMAN;.	N	321;344	ENSP00000418928:D321N;ENSP00000311035:D344N	ENSP00000311035:D344N	D	-	1	0	CD200R1	114125231	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.143000	0.16115	-0.243000	0.09653	-0.143000	0.13931	GAC		0.378	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		7	63	0	0	0	1	0	7	63				
HN1L	90861	broad.mit.edu	37	16	1748969	1748969	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:1748969G>T	ENST00000248098.3	+	5	600	c.543G>T	c.(541-543)ccG>ccT	p.P181P	HN1L_ENST00000382710.4_Silent_p.P169P|HN1L_ENST00000561516.1_3'UTR|HN1L_ENST00000569765.1_3'UTR|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000562684.1_Silent_p.P209P|HN1L_ENST00000382711.5_Silent_p.P165P	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	181						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						TGAACCCACCGGGAGGCAAAT	0.602																																						ENST00000248098.3																			0				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						c.(541-543)ccG>ccT		hematological and neurological expressed 1-like							48.0	59.0	56.0					16																	1748969		2199	4299	6498	SO:0001819	synonymous_variant	90861					cytoplasm|nucleus		g.chr16:1748969G>T	AK023154	CCDS10441.1	16p13.3	2006-12-13	2006-12-13	2006-12-13	ENSG00000206053	ENSG00000206053			14137	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 34"""	C16orf34		15094197	Standard	NM_144570		Approved	FLJ13092, L11, KIAA1426	uc002cmg.3	Q9H910	OTTHUMG00000047859	ENST00000248098.3:c.543G>T	16.37:g.1748969G>T						HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000382711.5_Silent_p.P165P|HN1L_ENST00000561516.1_3'UTR|HN1L_ENST00000569765.1_3'UTR|HN1L_ENST00000562684.1_Silent_p.P209P|HN1L_ENST00000382710.4_Silent_p.P169P	p.P181P	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN			5	600	+			181					B1AJY2|Q6EIC7	Silent	SNP	ENST00000248098.3	37	c.543G>T	CCDS10441.1																																																																																				0.602	HN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109086.2	NM_144570		17	80	1	0	3.32936e-07	1	4.28363e-07	17	80				
COL14A1	7373	broad.mit.edu	37	8	121222140	121222140	+	Splice_Site	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:121222140G>C	ENST00000297848.3	+	12	1737	c.1467G>C	c.(1465-1467)gaG>gaC	p.E489D	COL14A1_ENST00000247781.3_Splice_Site_p.E394D|COL14A1_ENST00000537875.1_Splice_Site_p.E489D|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Splice_Site_p.E489D	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATGAAAAAGAGGTAACCACTT	0.373																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.e12+1		collagen, type XIV, alpha 1							72.0	68.0	70.0					8																	121222140		2203	4300	6503	SO:0001630	splice_region_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121222140G>C		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1467+1G>C	8.37:g.121222140G>C						COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Splice_Site_p.E489_splice|COL14A1_ENST00000247781.3_Splice_Site_p.E394_splice|COL14A1_ENST00000537875.1_Splice_Site_p.E489_splice	p.E489_splice	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		12	1737	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		489			Fibronectin type-III 3.			Splice_Site	SNP	ENST00000297848.3	37	c.1467_splice	CCDS34938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.25|19.25	3.790772|3.790772	0.70452|0.70452	.|.	.|.	ENSG00000187955|ENSG00000187955	ENST00000523142|ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	.|T;T;T;T;T	.|0.60171	.|0.21;0.21;0.21;0.21;0.21	5.21|5.21	5.21|5.21	0.72293|0.72293	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.110120	.|0.64402	.|D	.|0.000010	T|T	0.78136|0.78136	0.4236|0.4236	M|M	0.82056|0.82056	2.57|2.57	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.997	.|D;D	.|0.87578	.|0.998;0.992	T|T	0.78640|0.78640	-0.2125|-0.2125	5|10	.|0.48119	.|T	.|0.1	.|.	18.9601|18.9601	0.92674|0.92674	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|489;489	.|Q05707-2;Q05707	.|.;COEA1_HUMAN	H|D	246|489;489;489;394;302	.|ENSP00000443974:E489D;ENSP00000311809:E489D;ENSP00000297848:E489D;ENSP00000247781:E394D;ENSP00000409461:E302D	.|ENSP00000247781:E394D	D|E	+|+	1|3	0|2	COL14A1|COL14A1	121291321|121291321	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.392000|0.392000	0.30506|0.30506	7.042000|7.042000	0.76565|0.76565	2.692000|2.692000	0.91855|0.91855	0.650000|0.650000	0.86243|0.86243	GAT|GAG		0.373	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	Missense_Mutation	9	66	0	0	0	1	0	9	66				
ERN2	10595	broad.mit.edu	37	16	23707243	23707243	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:23707243G>T	ENST00000457008.2	-	13	1464	c.1426C>A	c.(1426-1428)Cgc>Agc	p.R476S	ERN2_ENST00000256797.4_Missense_Mutation_p.R576S					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCTGCCCCGCGGCCCAGCACG	0.637																																						ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(1726-1728)Cgc>Agc		endoplasmic reticulum to nucleus signaling 2							41.0	40.0	40.0					16																	23707243		2197	4300	6497	SO:0001583	missense	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23707243G>T	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1426C>A	16.37:g.23707243G>T	ENSP00000413812:p.Arg476Ser					ERN2_ENST00000457008.2_Missense_Mutation_p.R476S	p.R576S	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	14	1894	-			528			Protein kinase.			Missense_Mutation	SNP	ENST00000457008.2	37	c.1726C>A		.	.	.	.	.	.	.	.	.	.	G	33	5.284263	0.95517	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.63744	-0.06;-0.06	5.95	5.95	0.96441	.	0.058783	0.64402	D	0.000002	T	0.69860	0.3158	L	0.37897	1.145	0.45172	D	0.998187	D;D	0.63046	0.992;0.987	P;P	0.60886	0.871;0.88	T	0.69335	-0.5172	10	0.52906	T	0.07	.	17.8792	0.88835	0.0:0.0:1.0:0.0	.	476;528	E7ETG2;A5YM65	.;.	S	576;476	ENSP00000256797:R576S;ENSP00000413812:R476S	ENSP00000256797:R576S	R	-	1	0	ERN2	23614744	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.831000	0.92068	2.825000	0.97269	0.655000	0.94253	CGC		0.637	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			4	39	1	0	0.150653	1	0.152925	4	39				
TSHZ2	128553	broad.mit.edu	37	20	51872767	51872767	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr20:51872767C>T	ENST00000371497.5	+	2	3657	c.2770C>T	c.(2770-2772)Ccc>Tcc	p.P924S	TSHZ2_ENST00000603338.2_Missense_Mutation_p.P921S|TSHZ2_ENST00000329613.6_Missense_Mutation_p.P921S|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	924					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CAAAGGCCACCCCATCTTTTA	0.473																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(2770-2772)Ccc>Tcc		teashirt zinc finger homeobox 2							70.0	71.0	71.0					20																	51872767		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51872767C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2770C>T	20.37:g.51872767C>T	ENSP00000360552:p.Pro924Ser					TSHZ2_ENST00000603338.2_Missense_Mutation_p.P921S|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.P921S	p.P924S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3657	+			924					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.2770C>T	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282593	0.80692	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.38887	1.14;1.11	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.62146	0.2404	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.62946	-0.6746	10	0.87932	D	0	-15.8034	19.7045	0.96068	0.0:1.0:0.0:0.0	.	924	Q9NRE2	TSH2_HUMAN	S	924;921;450	ENSP00000360552:P924S;ENSP00000333114:P921S	ENSP00000333114:P921S	P	+	1	0	TSHZ2	51306174	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.482000	0.81143	2.656000	0.90262	0.643000	0.83706	CCC		0.473	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		5	60	0	0	0	1	0	5	60				
UGT2B7	7364	broad.mit.edu	37	4	69964264	69964264	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:69964264C>A	ENST00000508661.1	+	2	755	c.728C>A	c.(727-729)cCc>cAc	p.P243H	UGT2B7_ENST00000305231.7_Missense_Mutation_p.P243H|UGT2B7_ENST00000509763.1_3'UTR			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	243					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TCAGGAAGACCCACTACATTA	0.353																																						ENST00000305231.7																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(727-729)cCc>cAc		UDP glucuronosyltransferase 2 family, polypeptide B7							101.0	103.0	102.0					4																	69964264		2203	4300	6503	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69964264C>A	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.728C>A	4.37:g.69964264C>A	ENSP00000427659:p.Pro243His					UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000508661.1_Missense_Mutation_p.P243H	p.P243H	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			2	774	+			243					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37	c.728C>A		.	.	.	.	.	.	.	.	.	.	C	4.834	0.155023	0.09236	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.63913	-0.07;-0.07	2.69	1.83	0.25207	.	0.086755	0.47093	N	0.000248	T	0.63651	0.2529	M	0.83774	2.66	0.22330	N	0.999194	B;B	0.25390	0.125;0.045	B;B	0.33750	0.169;0.169	T	0.56980	-0.7889	9	.	.	.	.	8.7224	0.34449	0.2288:0.7711:0.0:0.0	.	243;243	E9PBP8;P16662	.;UD2B7_HUMAN	H	243	ENSP00000304811:P243H;ENSP00000427659:P243H	.	P	+	2	0	UGT2B7	69998853	0.901000	0.30685	0.920000	0.36463	0.110000	0.19582	1.843000	0.39259	0.456000	0.26937	-0.189000	0.12847	CCC		0.353	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		16	91	1	0	2.31682e-05	1	2.74084e-05	16	91				
SLC24A3	57419	broad.mit.edu	37	20	19673993	19673993	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr20:19673993G>A	ENST00000328041.6	+	13	1612	c.1415G>A	c.(1414-1416)tGg>tAg	p.W472*	RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000608476.1_RNA|RP4-718D20.3_ENST00000609846.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000609610.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	472					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AAGCCGCGCTGGGAGAAATGG	0.527																																						ENST00000328041.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1414-1416)tGg>tAg		solute carrier family 24 (sodium/potassium/calcium exchanger), member 3							122.0	103.0	109.0					20																	19673993		2203	4300	6503	SO:0001587	stop_gained	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19673993G>A	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1415G>A	20.37:g.19673993G>A	ENSP00000333519:p.Trp472*					RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA	p.W472*	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN			13	1612	+			472					B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Nonsense_Mutation	SNP	ENST00000328041.6	37	c.1415G>A	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	G	39	7.570173	0.98365	.	.	ENSG00000185052	ENST00000328041	.	.	.	5.43	5.43	0.79202	.	0.056270	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.838	0.70197	0.0:0.0:0.8557:0.1443	.	.	.	.	X	472	.	.	W	+	2	0	SLC24A3	19621993	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.639000	0.83342	2.547000	0.85894	0.655000	0.94253	TGG		0.527	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		5	59	0	0	0	1	0	5	59				
NOL4	8715	broad.mit.edu	37	18	31538379	31538379	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:31538379G>C	ENST00000261592.5	-	7	1357	c.1060C>G	c.(1060-1062)Cct>Gct	p.P354A	NOL4_ENST00000538587.1_Missense_Mutation_p.P280A|NOL4_ENST00000589544.1_Missense_Mutation_p.P354A|NOL4_ENST00000535475.1_Missense_Mutation_p.P199A|NOL4_ENST00000535384.1_Missense_Mutation_p.P69A|NOL4_ENST00000269185.4_Missense_Mutation_p.P240A	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	354						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTATGTGCAGGAGACTGAAAA	0.383																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1060-1062)Cct>Gct		nucleolar protein 4							149.0	138.0	142.0					18																	31538379		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31538379G>C	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1060C>G	18.37:g.31538379G>C	ENSP00000261592:p.Pro354Ala					NOL4_ENST00000535384.1_Missense_Mutation_p.P69A|NOL4_ENST00000269185.4_Missense_Mutation_p.P240A|NOL4_ENST00000589544.1_Missense_Mutation_p.P354A|NOL4_ENST00000538587.1_Missense_Mutation_p.P280A|NOL4_ENST00000535475.1_Missense_Mutation_p.P199A	p.P354A	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			7	1357	-			354					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1060C>G	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573324	0.65765	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000399171;ENST00000535384;ENST00000535475;ENST00000538587	D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	D	0.90442	0.7007	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;0.999;0.971	D;D;D;D;D;D;D;P	0.85130	0.964;0.997;0.997;0.997;0.997;0.997;0.996;0.79	D	0.90447	0.4436	10	0.62326	D	0.03	-11.0981	19.7023	0.96060	0.0:0.0:1.0:0.0	.	240;103;69;280;354;69;354;199	B4DLW2;F8W825;B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;.;.;NOL4_HUMAN;.;.;.	A	354;240;103;69;199;280	ENSP00000261592:P354A;ENSP00000269185:P240A;ENSP00000445733:P69A;ENSP00000438190:P199A;ENSP00000443472:P280A	ENSP00000261592:P354A	P	-	1	0	NOL4	29792377	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.471000	0.97696	2.639000	0.89480	0.557000	0.71058	CCT		0.383	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		13	112	0	0	0	1	0	13	112				
LRRTM4	80059	broad.mit.edu	37	2	76975852	76975852	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:76975852G>T	ENST00000409093.1	-	4	2078	c.1742C>A	c.(1741-1743)cCg>cAg	p.P581Q	LRRTM4_ENST00000409884.1_Missense_Mutation_p.P581Q|LRRTM4_ENST00000409911.1_Missense_Mutation_p.P582Q			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	581					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTAGATGGCCGGTGCTGCCGA	0.592																																						ENST00000409911.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(1744-1746)cCg>cAg		leucine rich repeat transmembrane neuronal 4							150.0	137.0	141.0					2																	76975852		1568	3582	5150	SO:0001583	missense	80059					integral to membrane		g.chr2:76975852G>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1742C>A	2.37:g.76975852G>T	ENSP00000386357:p.Pro581Gln					LRRTM4_ENST00000409884.1_Missense_Mutation_p.P581Q|LRRTM4_ENST00000409093.1_Missense_Mutation_p.P581Q	p.P582Q	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1968	-			581					Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.1745C>A	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.753067	0.31046	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093	T;T;T	0.65364	-0.15;-0.11;-0.11	5.69	5.69	0.88448	.	.	.	.	.	T	0.69015	0.3064	N	0.24115	0.695	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.71919	-0.4447	9	0.62326	D	0.03	.	17.3094	0.87205	0.0:0.0:1.0:0.0	.	581	Q86VH4	LRRT4_HUMAN	Q	582;581;581	ENSP00000387228:P582Q;ENSP00000387297:P581Q;ENSP00000386357:P581Q	ENSP00000386357:P581Q	P	-	2	0	LRRTM4	76829360	1.000000	0.71417	0.309000	0.25155	0.014000	0.08584	6.585000	0.74062	2.682000	0.91365	0.650000	0.86243	CCG		0.592	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		11	143	1	0	6.40141e-05	1	7.46369e-05	11	143				
THSD1	55901	broad.mit.edu	37	13	52951826	52951826	+	Missense_Mutation	SNP	C	C	G	rs200293227		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:52951826C>G	ENST00000258613.4	-	5	2457	c.2279G>C	c.(2278-2280)cGt>cCt	p.R760P	THSD1_ENST00000544466.1_Missense_Mutation_p.R381P|THSD1_ENST00000349258.4_Missense_Mutation_p.R707P	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	760					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CGGTCCCCGACGAGCTCTGTG	0.547																																						ENST00000349258.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2119-2121)cGt>cCt		thrombospondin, type I, domain containing 1							119.0	126.0	124.0					13																	52951826		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52951826C>G	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.2279G>C	13.37:g.52951826C>G	ENSP00000258613:p.Arg760Pro					THSD1_ENST00000544466.1_Missense_Mutation_p.R381P|THSD1_ENST00000258613.4_Missense_Mutation_p.R760P	p.R707P	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	4	2664	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	760					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.2120G>C	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000344	0.35320	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.38887	1.81;1.11;1.99	5.38	2.63	0.31362	.	0.324118	0.31542	N	0.007473	T	0.38188	0.1031	L	0.50333	1.59	0.21553	N	0.999642	P;P	0.51537	0.946;0.927	P;P	0.45913	0.497;0.481	T	0.26985	-1.0087	10	0.87932	D	0	-13.5217	7.2503	0.26146	0.0:0.5702:0.0:0.4298	.	707;760	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	P	707;381;760	ENSP00000340650:R707P;ENSP00000438512:R381P;ENSP00000258613:R760P	ENSP00000258613:R760P	R	-	2	0	THSD1	51849827	0.128000	0.22383	0.731000	0.30826	0.470000	0.32858	0.731000	0.26058	0.737000	0.32582	0.502000	0.49764	CGT		0.547	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			45	130	0	0	0	1	0	45	130				
PTPRM	5797	broad.mit.edu	37	18	8244165	8244165	+	Missense_Mutation	SNP	G	G	A	rs569455729		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:8244165G>A	ENST00000332175.8	+	15	3447	c.2410G>A	c.(2410-2412)Gag>Aag	p.E804K	PTPRM_ENST00000444013.1_Missense_Mutation_p.E591K|PTPRM_ENST00000400060.4_Missense_Mutation_p.E804K|PTPRM_ENST00000580170.1_Missense_Mutation_p.E804K|PTPRM_ENST00000400053.4_Missense_Mutation_p.E742K	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	804					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AAACTGCGACGAGGCTTTCTC	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		18310	0.0		0.0	False		,,,				2504	0.001					ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(2410-2412)Gag>Aag		protein tyrosine phosphatase, receptor type, M							157.0	140.0	146.0					18																	8244165		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8244165G>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2410G>A	18.37:g.8244165G>A	ENSP00000331418:p.Glu804Lys					PTPRM_ENST00000444013.1_Missense_Mutation_p.E591K|PTPRM_ENST00000400053.4_Missense_Mutation_p.E742K|PTPRM_ENST00000400060.4_Missense_Mutation_p.E804K|PTPRM_ENST00000580170.1_Missense_Mutation_p.E804K	p.E804K	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			15	3447	+		Colorectal(10;0.234)	804					A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.2410G>A	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	37	6.048475	0.97236	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.52983	0.9;1.05;0.79;0.64	5.71	5.71	0.89125	.	0.103805	0.64402	D	0.000004	T	0.70263	0.3204	M	0.74881	2.28	0.80722	D	1	P;D;D	0.76494	0.801;0.999;0.999	B;D;D	0.71184	0.158;0.972;0.972	T	0.71255	-0.4647	10	0.59425	D	0.04	.	19.8593	0.96777	0.0:0.0:1.0:0.0	.	591;804;804	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	K	804;804;742;591	ENSP00000331418:E804K;ENSP00000382933:E804K;ENSP00000382927:E742K;ENSP00000387608:E591K	ENSP00000331418:E804K	E	+	1	0	PTPRM	8234165	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	9.869000	0.99810	2.700000	0.92200	0.557000	0.71058	GAG		0.483	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			10	110	0	0	0	1	0	10	110				
MB21D1	115004	broad.mit.edu	37	6	74150012	74150012	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:74150012G>A	ENST00000370315.3	-	3	1128	c.1034C>T	c.(1033-1035)tCa>tTa	p.S345L	MB21D1_ENST00000370318.1_Missense_Mutation_p.S345L	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	345					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						AACTTTTGCTGAAAGCCAGTT	0.393																																						ENST00000370315.3																			0				central_nervous_system(1)|large_intestine(4)|lung(1)	6						c.(1033-1035)tCa>tTa		Mab-21 domain containing 1							112.0	108.0	109.0					6																	74150012		2203	4300	6503	SO:0001583	missense	115004							g.chr6:74150012G>A	BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"""chromosome 6 open reading frame 150"""	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.1034C>T	6.37:g.74150012G>A	ENSP00000359339:p.Ser345Leu					MB21D1_ENST00000370318.1_Missense_Mutation_p.S345L	p.S345L	NM_138441.2	NP_612450.2	Q8N884	M21D1_HUMAN			3	1128	-			345					L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Missense_Mutation	SNP	ENST00000370315.3	37	c.1034C>T	CCDS4978.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570743	0.28003	.	.	ENSG00000164430	ENST00000370318;ENST00000370315;ENST00000296913	T;T	0.10192	2.9;2.9	5.28	3.47	0.39725	.	0.146450	0.44285	D	0.000463	T	0.04543	0.0124	L	0.34521	1.04	0.09310	N	0.999999	P	0.43938	0.822	B	0.42593	0.392	T	0.11397	-1.0589	10	0.87932	D	0	-8.6677	13.7445	0.62868	0.0:0.6921:0.3079:0.0	.	345	Q8N884	M21D1_HUMAN	L	345	ENSP00000359342:S345L;ENSP00000359339:S345L	ENSP00000296913:S345L	S	-	2	0	MB21D1	74206733	0.932000	0.31603	0.088000	0.20740	0.006000	0.05464	2.887000	0.48586	0.596000	0.29794	-0.519000	0.04390	TCA		0.393	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041221.5	NM_138441		10	96	0	0	0	1	0	10	96				
TNR	7143	broad.mit.edu	37	1	175360426	175360426	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:175360426G>A	ENST00000367674.2	-	7	2213	c.1505C>T	c.(1504-1506)aCa>aTa	p.T502I	TNR_ENST00000263525.2_Missense_Mutation_p.T502I			Q92752	TENR_HUMAN	tenascin R	502	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCACTCACCTGTGGAGACGCT	0.542																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(1504-1506)aCa>aTa		tenascin R							64.0	67.0	66.0					1																	175360426		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175360426G>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1505C>T	1.37:g.175360426G>A	ENSP00000356646:p.Thr502Ile					TNR_ENST00000263525.2_Missense_Mutation_p.T502I	p.T502I	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			7	2213	-	Renal(580;0.146)		502			Fibronectin type-III 2.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1505C>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385119	0.82792	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.06768	3.26;3.26	5.23	5.23	0.72850	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.35364	0.0929	M	0.84773	2.715	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.27673	-1.0067	10	0.87932	D	0	.	18.3986	0.90507	0.0:0.0:1.0:0.0	.	502	Q92752	TENR_HUMAN	I	502	ENSP00000356646:T502I;ENSP00000263525:T502I	ENSP00000263525:T502I	T	-	2	0	TNR	173627049	1.000000	0.71417	0.989000	0.46669	0.589000	0.36550	9.333000	0.96459	2.429000	0.82318	0.655000	0.94253	ACA		0.542	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		15	81	0	0	0	1	0	15	81				
C7orf50	84310	broad.mit.edu	37	7	1049731	1049731	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:1049731G>T	ENST00000397098.3	-	3	1104	c.178C>A	c.(178-180)Cca>Aca	p.P60T	C7orf50_ENST00000357429.6_Missense_Mutation_p.P60T|C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000397100.2_Missense_Mutation_p.P60T			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	60							poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		TGCTCCTCTGGGGACAGCTCT	0.617																																						ENST00000397098.3																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						c.(178-180)Cca>Aca		chromosome 7 open reading frame 50							70.0	61.0	64.0					7																	1049731		2200	4299	6499	SO:0001583	missense	84310						protein binding	g.chr7:1049731G>T	BC006224	CCDS5320.1	7p22.3	2011-11-25			ENSG00000146540	ENSG00000146540			22421	protein-coding gene	gene with protein product							Standard	NM_032350		Approved	MGC11257, YCR016W	uc011jvu.1	Q9BRJ6	OTTHUMG00000151477	ENST00000397098.3:c.178C>A	7.37:g.1049731G>T	ENSP00000380286:p.Pro60Thr					C7orf50_ENST00000397100.2_Missense_Mutation_p.P60T|C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000357429.6_Missense_Mutation_p.P60T	p.P60T			Q9BRJ6	CG050_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)	3	1104	-		Ovarian(82;0.0779)	60						Missense_Mutation	SNP	ENST00000397098.3	37	c.178C>A	CCDS5320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	10.80|10.80	1.452509|1.452509	0.26074|0.26074	.|.	.|.	ENSG00000146540|ENSG00000146540	ENST00000412051|ENST00000397100;ENST00000397098;ENST00000357429;ENST00000444428;ENST00000491163	.|.	.|.	.|.	3.75|3.75	3.75|3.75	0.43078|0.43078	.|.	0.078042|0.078042	0.51477|0.51477	D|D	0.000087|0.000087	T|T	0.57460|0.57460	0.2055|0.2055	L|L	0.57536|0.57536	1.79|1.79	0.29956|0.29956	N|N	0.819831|0.819831	.|D	.|0.69078	.|0.997	.|D	.|0.63488	.|0.915	T|T	0.55354|0.55354	-0.8154|-0.8154	6|9	.|0.45353	.|T	.|0.12	-12.8486|-12.8486	8.813|8.813	0.34978|0.34978	0.0:0.0:0.7754:0.2246|0.0:0.0:0.7754:0.2246	.|.	.|60	.|Q9BRJ6	.|CG050_HUMAN	H|T	44|60;60;60;28;60	.|.	.|ENSP00000350011:P60T	P|P	-|-	2|1	0|0	C7orf50|C7orf50	1016257|1016257	0.517000|0.517000	0.26226|0.26226	0.863000|0.863000	0.33907|0.33907	0.215000|0.215000	0.24574|0.24574	1.253000|1.253000	0.32886|0.32886	2.093000|2.093000	0.63338|0.63338	0.457000|0.457000	0.33378|0.33378	CCC|CCA		0.617	C7orf50-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322817.3	NM_032350		4	40	1	0	0.00909568	1	0.00960694	4	40				
GUSB	2990	broad.mit.edu	37	7	65445375	65445375	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:65445375G>T	ENST00000304895.4	-	2	362	c.232C>A	c.(232-234)Cca>Aca	p.P78T	GUSB_ENST00000421103.1_Missense_Mutation_p.P78T|GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000345660.6_Missense_Mutation_p.P78T	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	78					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						GAGGGAACTGGCATGTCCACG	0.632																																						ENST00000304895.4																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						c.(232-234)Cca>Aca		glucuronidase, beta							60.0	50.0	53.0					7																	65445375		2203	4300	6503	SO:0001583	missense	2990				glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	g.chr7:65445375G>T	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.232C>A	7.37:g.65445375G>T	ENSP00000302728:p.Pro78Thr					GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000345660.6_Missense_Mutation_p.P78T|GUSB_ENST00000421103.1_Missense_Mutation_p.P78T	p.P78T	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN			2	362	-			78					B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	ENST00000304895.4	37	c.232C>A	CCDS5530.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059623	0.55325	.	.	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	D;D;D	0.85258	-1.96;-1.96;-1.96	5.06	4.18	0.49190	Galactose-binding domain-like (1);Glycoside hydrolase, family 2, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91274	0.7249	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91856	0.5495	10	0.87932	D	0	.	12.8095	0.57631	0.0789:0.0:0.9211:0.0	.	78;78	E9PCV0;P08236	.;BGLR_HUMAN	T	78	ENSP00000302728:P78T;ENSP00000391390:P78T;ENSP00000340734:P78T	ENSP00000302728:P78T	P	-	1	0	GUSB	65082810	1.000000	0.71417	0.966000	0.40874	0.169000	0.22640	7.112000	0.77086	1.159000	0.42565	-0.215000	0.12644	CCA		0.632	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		3	21	1	0	6.4e-05	1	7.46369e-05	3	21				
SALL4	57167	broad.mit.edu	37	20	50407722	50407722	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr20:50407722G>T	ENST00000217086.4	-	2	1411	c.1300C>A	c.(1300-1302)Cag>Aag	p.Q434K	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'Flank	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	434					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCTTCACCTGGGGATGTCGG	0.582																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1300-1302)Cag>Aag		spalt-like transcription factor 4							52.0	52.0	52.0					20																	50407722		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50407722G>T	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1300C>A	20.37:g.50407722G>T	ENSP00000217086:p.Gln434Lys					SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	p.Q434K	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	1411	-			434					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.1300C>A	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362844	0.41902	.	.	ENSG00000101115	ENST00000217086	T	0.07114	3.22	5.18	4.2	0.49525	Zinc finger, C2H2 (1);	0.184404	0.26734	N	0.022761	T	0.09905	0.0243	M	0.67953	2.075	0.80722	D	1	B	0.26318	0.146	B	0.24974	0.057	T	0.06391	-1.0829	10	0.10377	T	0.69	-22.1964	11.1824	0.48636	0.0:0.1387:0.7175:0.1439	.	434	Q9UJQ4	SALL4_HUMAN	K	434	ENSP00000217086:Q434K	ENSP00000217086:Q434K	Q	-	1	0	SALL4	49841129	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.345000	0.59360	1.119000	0.41883	0.655000	0.94253	CAG		0.582	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			11	59	1	0	7.03913e-09	1	9.65639e-09	11	59				
ALG10	84920	broad.mit.edu	37	12	34175678	34175678	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:34175678C>T	ENST00000266483.2	+	1	463	c.144C>T	c.(142-144)taC>taT	p.Y48Y	ALG10_ENST00000538927.1_Silent_p.Y48Y|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	48					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CGCAGCGCTACTGTGAGGGCC	0.622																																						ENST00000266483.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(142-144)taC>taT		ALG10, alpha-1,2-glucosyltransferase							142.0	149.0	146.0					12																	34175678		2203	4300	6503	SO:0001819	synonymous_variant	84920				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:34175678C>T	AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.144C>T	12.37:g.34175678C>T						RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Silent_p.Y48Y	p.Y48Y	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN			1	463	+	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)	48					Q6NS98|Q96DU0|Q96SM6	Silent	SNP	ENST00000266483.2	37	c.144C>T	CCDS41769.1																																																																																				0.622	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	NM_032834		23	252	0	0	0	1	0	23	252				
DGKD	8527	broad.mit.edu	37	2	234355440	234355440	+	Nonsense_Mutation	SNP	G	G	T	rs565365318		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:234355440G>T	ENST00000264057.2	+	12	1429	c.1417G>T	c.(1417-1419)Gag>Tag	p.E473*	DGKD_ENST00000409813.3_Nonsense_Mutation_p.E429*	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	473					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CGAGGATTCCGAGGTATTGCT	0.592																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(1417-1419)Gag>Tag		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)						104.0	87.0	93.0					2																	234355440		2203	4300	6503	SO:0001587	stop_gained	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234355440G>T	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.1417G>T	2.37:g.234355440G>T	ENSP00000264057:p.Glu473*					DGKD_ENST00000409813.3_Nonsense_Mutation_p.E429*	p.E473*	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	12	1429	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	473					Q14158|Q6PK55|Q8NG53	Nonsense_Mutation	SNP	ENST00000264057.2	37	c.1417G>T	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025246	0.93518	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	.	.	.	5.05	5.05	0.67936	.	0.218963	0.36002	N	0.002854	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.9815	0.92757	0.0:0.0:1.0:0.0	.	.	.	.	X	473;429	.	ENSP00000264057:E473X	E	+	1	0	DGKD	234020179	1.000000	0.71417	0.986000	0.45419	0.686000	0.39977	7.525000	0.81892	2.806000	0.96561	0.655000	0.94253	GAG		0.592	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		7	56	1	0	0.00307968	1	0.00332671	7	56				
NFAT5	10725	broad.mit.edu	37	16	69689631	69689631	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:69689631C>A	ENST00000354436.2	+	5	1389	c.1071C>A	c.(1069-1071)tgC>tgA	p.C357*	NFAT5_ENST00000349945.1_Nonsense_Mutation_p.C281*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.C375*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.C281*|NFAT5_ENST00000567239.1_Nonsense_Mutation_p.C375*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.C281*	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	357	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAACTCCTTGCAAAGAAGTGG	0.428																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(841-843)tgC>tgA		nuclear factor of activated T-cells 5, tonicity-responsive							140.0	130.0	133.0					16																	69689631		2198	4300	6498	SO:0001587	stop_gained	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69689631C>A	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1071C>A	16.37:g.69689631C>A	ENSP00000346420:p.Cys357*					NFAT5_ENST00000432919.1_Nonsense_Mutation_p.C375*|NFAT5_ENST00000567239.1_Nonsense_Mutation_p.C375*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.C281*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.C281*|NFAT5_ENST00000354436.2_Nonsense_Mutation_p.C357*	p.C281*	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			7	2395	+			357			RHD.		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Nonsense_Mutation	SNP	ENST00000354436.2	37	c.843C>A	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	39	7.433746	0.98282	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	.	.	.	5.71	0.568	0.17333	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0522	10.6155	0.45447	0.0:0.5501:0.0:0.4499	.	.	.	.	X	375;375;281;357;281	.	ENSP00000338806:C281X	C	+	3	2	NFAT5	68247132	0.999000	0.42202	0.999000	0.59377	0.987000	0.75469	0.739000	0.26173	0.103000	0.17682	-0.214000	0.12660	TGC		0.428	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		13	79	1	0	7.93312e-07	1	1.00312e-06	13	79				
TMEM86A	144110	broad.mit.edu	37	11	18723412	18723412	+	Silent	SNP	C	C	T	rs377641163		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:18723412C>T	ENST00000280734.2	+	3	675	c.579C>T	c.(577-579)atC>atT	p.I193I		NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	193						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						ACCTGACCATCGCCCTCAACA	0.577																																						ENST00000280734.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						c.(577-579)atC>atT		transmembrane protein 86A		C		0,4398		0,0,2199	113.0	95.0	101.0		579	2.5	1.0	11		101	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous	TMEM86A	NM_153347.1		0,1,6491	TT,TC,CC		0.0116,0.0,0.0077		193/241	18723412	1,12983	2199	4293	6492	SO:0001819	synonymous_variant	144110					integral to membrane		g.chr11:18723412C>T	BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.579C>T	11.37:g.18723412C>T							p.I193I	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN			3	675	+			193					Q96AJ0	Silent	SNP	ENST00000280734.2	37	c.579C>T	CCDS7844.1																																																																																				0.577	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	NM_153347		6	91	0	0	0	1	0	6	91				
IKBKB	3551	broad.mit.edu	37	8	42179608	42179608	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:42179608G>A	ENST00000520810.1	+	18	1961	c.1775G>A	c.(1774-1776)cGg>cAg	p.R592Q	IKBKB_ENST00000520835.1_Missense_Mutation_p.R590Q|IKBKB_ENST00000416505.2_Missense_Mutation_p.R533Q|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Missense_Mutation_p.R369Q	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	592					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GAAATGGTACGGCTGCTGCTT	0.537																																						ENST00000520810.1																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.(1774-1776)cGg>cAg		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						100.0	102.0	101.0					8																	42179608		2203	4300	6503	SO:0001583	missense	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42179608G>A	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1775G>A	8.37:g.42179608G>A	ENSP00000430684:p.Arg592Gln					IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.R590Q|IKBKB_ENST00000416505.2_Missense_Mutation_p.R533Q|IKBKB_ENST00000379708.3_Missense_Mutation_p.R369Q	p.R592Q	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		18	1961	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	592					B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	c.1775G>A	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868898	0.72065	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.44095	0.1277	L	0.43152	1.355	0.51767	D	0.999933	D;P;D;P	0.76494	0.998;0.589;0.999;0.652	P;B;D;B	0.72625	0.75;0.151;0.978;0.072	T	0.05402	-1.0887	10	0.26408	T	0.33	.	19.224	0.93810	0.0:0.0:1.0:0.0	.	533;590;369;592	B4E0U4;O14920-2;B3KRB7;O14920	.;.;.;IKKB_HUMAN	Q	592;533;590;369	ENSP00000430684:R592Q;ENSP00000404920:R533Q;ENSP00000430868:R590Q;ENSP00000369030:R369Q	ENSP00000369030:R369Q	R	+	2	0	IKBKB	42298765	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.291000	0.59025	2.633000	0.89246	0.655000	0.94253	CGG		0.537	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			13	119	0	0	0	1	0	13	119				
CSMD3	114788	broad.mit.edu	37	8	113988122	113988122	+	Missense_Mutation	SNP	G	G	T	rs535411359		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:113988122G>T	ENST00000297405.5	-	7	1530	c.1286C>A	c.(1285-1287)cCa>cAa	p.P429Q	CSMD3_ENST00000352409.3_Missense_Mutation_p.P429Q|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.P389Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	429						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCATGTCTTGGTCTTCTCCT	0.443										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(1285-1287)cCa>cAa		CUB and Sushi multiple domains 3							211.0	190.0	197.0					8																	113988122		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113988122G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1286C>A	8.37:g.113988122G>T	ENSP00000297405:p.Pro429Gln	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.P389Q|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.P429Q	p.P429Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			7	1530	-			429					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1286C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990875	0.54041	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000352409	T;T;T	0.18016	2.24;2.24;2.24	6.17	6.17	0.99709	.	0.233779	0.27986	N	0.017058	T	0.31136	0.0787	N	0.22421	0.69	0.38216	D	0.940618	D;D	0.76494	0.998;0.999	D;D	0.83275	0.991;0.996	T	0.02821	-1.1106	10	0.27785	T	0.31	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	429;389	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	Q	389;429;429	ENSP00000345799:P389Q;ENSP00000297405:P429Q;ENSP00000343124:P429Q	ENSP00000297405:P429Q	P	-	2	0	CSMD3	114057298	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.746000	0.74866	2.941000	0.99782	0.655000	0.94253	CCA		0.443	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		13	120	1	0	1.5842e-08	1	2.14052e-08	13	120				
MGAM	8972	broad.mit.edu	37	7	141727027	141727027	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:141727027G>T	ENST00000549489.2	+	9	1190	c.1095G>T	c.(1093-1095)gaG>gaT	p.E365D	MGAM_ENST00000475668.2_Splice_Site_p.E365D	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	365	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AATATCTAGAGGTAAACTTAG	0.413																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.e9+1		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						112.0	105.0	107.0					7																	141727027		1855	4099	5954	SO:0001630	splice_region_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141727027G>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1095+1G>T	7.37:g.141727027G>T						MGAM_ENST00000549489.2_Splice_Site_p.E365_splice	p.E365_splice			O43451	MGA_HUMAN			9	1149	+	Melanoma(164;0.0272)		365			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Splice_Site	SNP	ENST00000549489.2	37	c.1095_splice	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469848	0.63625	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.91894	-2.93	5.45	5.45	0.79879	Glycoside hydrolase, superfamily (1);	0.114571	0.39274	N	0.001417	D	0.93674	0.7979	M	0.69358	2.11	0.40983	D	0.98479	P	0.43352	0.804	P	0.51229	0.663	D	0.92835	0.6283	10	0.38643	T	0.18	.	16.8265	0.85933	0.0:0.0:1.0:0.0	.	365	O43451	MGA_HUMAN	D	365;365;242	ENSP00000447378:E365D	ENSP00000316431:E242D	E	+	3	2	MGAM	141373496	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.054000	0.64275	2.838000	0.97847	0.655000	0.94253	GAG		0.413	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		Missense_Mutation	18	87	1	0	1.02788e-11	1	1.49915e-11	18	87				
IL4R	3566	broad.mit.edu	37	16	27367165	27367165	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:27367165G>C	ENST00000395762.2	+	8	966	c.707G>C	c.(706-708)gGc>gCc	p.G236A	IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_Missense_Mutation_p.G221A|IL4R_ENST00000543915.2_Missense_Mutation_p.G236A|IL4R_ENST00000170630.2_Missense_Mutation_p.G236A	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	236					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTCCTGCTGGGCGTCAGCGTT	0.617																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(706-708)gGc>gCc		interleukin 4 receptor							139.0	106.0	117.0					16																	27367165		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27367165G>C	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.707G>C	16.37:g.27367165G>C	ENSP00000379111:p.Gly236Ala					IL4R_ENST00000543915.2_Missense_Mutation_p.G236A|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000170630.2_Missense_Mutation_p.G236A|IL4R_ENST00000380922.3_Missense_Mutation_p.G221A	p.G236A	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			8	966	+			236					B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.707G>C	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	G	9.639	1.138435	0.21123	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.10192	2.9;2.9;2.9;2.9	4.6	1.52	0.23074	.	2.562500	0.00909	N	0.002452	T	0.15132	0.0365	L	0.53729	1.69	0.09310	N	1	P;P;P	0.52316	0.952;0.896;0.896	P;B;B	0.47528	0.549;0.171;0.171	T	0.23154	-1.0196	10	0.16420	T	0.52	-10.7731	4.7849	0.13220	0.1988:0.201:0.6002:0.0	.	221;236;236	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	A	236;236;221;236	ENSP00000379111:G236A;ENSP00000441667:G236A;ENSP00000370309:G221A;ENSP00000170630:G236A	ENSP00000170630:G236A	G	+	2	0	IL4R	27274666	0.022000	0.18835	0.001000	0.08648	0.000000	0.00434	1.152000	0.31663	0.181000	0.19994	-0.221000	0.12465	GGC		0.617	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			14	73	0	0	0	1	0	14	73				
PPP1R26	9858	broad.mit.edu	37	9	138379125	138379125	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:138379125C>A	ENST00000356818.2	+	4	3318	c.2769C>A	c.(2767-2769)ggC>ggA	p.G923G	PPP1R26_ENST00000604351.1_Silent_p.G923G|PPP1R26_ENST00000605660.1_Silent_p.G923G|PPP1R26_ENST00000401470.3_Silent_p.G923G|PPP1R26_ENST00000605286.1_Silent_p.G923G|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	923					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										TCAGCCAGGGCGGGAAGGGGC	0.697																																						ENST00000356818.2																			0											c.(2767-2769)ggC>ggA		protein phosphatase 1, regulatory subunit 26							33.0	40.0	37.0					9																	138379125		2018	3969	5987	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138379125C>A	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2769C>A	9.37:g.138379125C>A						PPP1R26_ENST00000401470.3_Silent_p.G923G|PPP1R26_ENST00000605660.1_Silent_p.G923G|PPP1R26_ENST00000605286.1_Silent_p.G923G|PPP1R26_ENST00000604351.1_Silent_p.G923G|PPP1R26_ENST00000602993.1_Intron	p.G923G	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	3318	+			923					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.2769C>A	CCDS6988.1																																																																																				0.697	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		30	67	1	0	4.74835e-14	1	7.18478e-14	30	67				
FAM184A	79632	broad.mit.edu	37	6	119344239	119344239	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:119344239G>T	ENST00000338891.7	-	3	1464	c.1021C>A	c.(1021-1023)Caa>Aaa	p.Q341K	FAM184A_ENST00000368475.4_Missense_Mutation_p.Q221K|FAM184A_ENST00000521531.1_Missense_Mutation_p.Q341K|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.Q221K|FAM184A_ENST00000522284.1_Missense_Mutation_p.Q221K	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	341						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						AGCTGTTTTTGAAGAACCTAA	0.363																																						ENST00000338891.7																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(1021-1023)Caa>Aaa		family with sequence similarity 184, member A							113.0	104.0	107.0					6																	119344239		1852	4103	5955	SO:0001583	missense	79632							g.chr6:119344239G>T	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1021C>A	6.37:g.119344239G>T	ENSP00000342604:p.Gln341Lys					FAM184A_ENST00000352896.5_Missense_Mutation_p.Q221K|FAM184A_ENST00000368475.4_Missense_Mutation_p.Q221K|FAM184A_ENST00000521531.1_Missense_Mutation_p.Q341K|FAM184A_ENST00000522284.1_Missense_Mutation_p.Q221K|RP11-351A11.1_ENST00000518570.1_RNA	p.Q341K	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN			3	1464	-			341					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.1021C>A	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262693	0.59431	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.51	5.51	0.81932	.	0.180836	0.48767	D	0.000179	T	0.36853	0.0982	L	0.46157	1.445	0.43703	D	0.996161	D;D;D	0.59767	0.982;0.979;0.986	D;P;D	0.72338	0.968;0.801;0.977	T	0.03278	-1.1053	10	0.12103	T	0.63	-17.1066	19.427	0.94746	0.0:0.0:1.0:0.0	.	341;221;341	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	K	341;221;221;341;221	ENSP00000342604:Q341K;ENSP00000326608:Q221K;ENSP00000357460:Q221K;ENSP00000430442:Q341K;ENSP00000429826:Q221K	ENSP00000342604:Q341K	Q	-	1	0	FAM184A	119385938	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	5.541000	0.67212	2.603000	0.88011	0.655000	0.94253	CAA		0.363	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		12	46	1	0	3.03607e-14	1	4.60253e-14	12	46				
SFTPD	6441	broad.mit.edu	37	10	81706396	81706396	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:81706396G>A	ENST00000372292.3	-	2	60	c.20C>T	c.(19-21)tCt>tTt	p.S7F		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	7					defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			GACCAGTGCAGAGAGGAGGAA	0.527																																						ENST00000372292.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17						c.(19-21)tCt>tTt		surfactant protein D							89.0	77.0	81.0					10																	81706396		2203	4300	6503	SO:0001583	missense	6441				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding	g.chr10:81706396G>A	L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"""Collectins"""	10803	protein-coding gene	gene with protein product		178635	"""surfactant, pulmonary-associated protein D"""	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.20C>T	10.37:g.81706396G>A	ENSP00000361366:p.Ser7Phe						p.S7F	NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)		2	60	-	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		7					Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Missense_Mutation	SNP	ENST00000372292.3	37	c.20C>T	CCDS7362.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832227	0.32421	.	.	ENSG00000133661	ENST00000372292;ENST00000444384	D;D	0.91792	-2.73;-2.91	5.45	3.6	0.41247	.	0.109628	0.41396	N	0.000881	D	0.87981	0.6315	L	0.52011	1.625	0.09310	N	1	B	0.18863	0.031	B	0.17098	0.017	T	0.79718	-0.1686	10	0.62326	D	0.03	-7.3343	8.0084	0.30338	0.1874:0.0:0.8126:0.0	.	7	P35247	SFTPD_HUMAN	F	7;20	ENSP00000361366:S7F;ENSP00000394325:S20F	ENSP00000361366:S7F	S	-	2	0	SFTPD	81696376	0.020000	0.18652	0.004000	0.12327	0.781000	0.44180	0.694000	0.25512	0.671000	0.31185	0.655000	0.94253	TCT		0.527	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049011.1			4	22	0	0	0	1	0	4	22				
DPYD	1806	broad.mit.edu	37	1	98060712	98060712	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:98060712T>A	ENST00000370192.3	-	9	961	c.861A>T	c.(859-861)gaA>gaT	p.E287D		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	287					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CTTTATTGGGTTCTGGCAAAC	0.373																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(859-861)gaA>gaT		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						74.0	77.0	76.0					1																	98060712		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98060712T>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.861A>T	1.37:g.98060712T>A	ENSP00000359211:p.Glu287Asp						p.E287D	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	9	961	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	287					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.861A>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.172392	0.38315	.	.	ENSG00000188641	ENST00000370192	D	0.88277	-2.36	5.43	4.3	0.51218	.	0.161867	0.56097	N	0.000035	T	0.73321	0.3572	L	0.41710	1.295	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.68281	-0.5450	10	0.26408	T	0.33	-19.9498	10.7673	0.46301	0.0:0.0:0.1702:0.8298	.	287	Q12882	DPYD_HUMAN	D	287	ENSP00000359211:E287D	ENSP00000359211:E287D	E	-	3	2	DPYD	97833300	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	0.788000	0.26872	0.998000	0.38996	0.533000	0.62120	GAA		0.373	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		7	58	0	0	0	1	0	7	58				
FBXW7	55294	broad.mit.edu	37	4	153249510	153249510	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:153249510C>G	ENST00000281708.4	-	9	2497	c.1268G>C	c.(1267-1269)gGa>gCa	p.G423A	FBXW7_ENST00000603841.1_Missense_Mutation_p.G423A|FBXW7_ENST00000603548.1_Missense_Mutation_p.G423A|FBXW7_ENST00000393956.3_Missense_Mutation_p.G247A|FBXW7_ENST00000296555.5_Missense_Mutation_p.G305A|FBXW7_ENST00000263981.5_Missense_Mutation_p.G343A	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	423					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.G423V(7)|p.G343V(2)|p.G305V(2)|p.G184V(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGACCATACTCCACCTGTATG	0.373			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		14	Substitution - Missense(13)|Unknown(1)	p.G423V(7)|p.G343V(2)|p.G305V(2)|p.G184V(2)|p.?(1)	endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1267-1269)gGa>gCa		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							285.0	249.0	261.0					4																	153249510		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153249510C>G	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1268G>C	4.37:g.153249510C>G	ENSP00000281708:p.Gly423Ala					FBXW7_ENST00000603548.1_Missense_Mutation_p.G423A|FBXW7_ENST00000263981.5_Missense_Mutation_p.G343A|FBXW7_ENST00000296555.5_Missense_Mutation_p.G305A|FBXW7_ENST00000603841.1_Missense_Mutation_p.G423A|FBXW7_ENST00000393956.3_Missense_Mutation_p.G247A	p.G423A	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			9	2497	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	423					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1268G>C	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675471	0.88445	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	5.9	5.9	0.94986	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.62938	0.2469	N	0.10782	0.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;1.0;1.0	T	0.70063	-0.4975	10	0.72032	D	0.01	-19.5226	20.2787	0.98501	0.0:1.0:0.0:0.0	.	247;423;305;343	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	A	423;305;343;247	ENSP00000281708:G423A;ENSP00000296555:G305A;ENSP00000263981:G343A;ENSP00000377528:G247A	ENSP00000263981:G343A	G	-	2	0	FBXW7	153468960	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.798000	0.96311	0.650000	0.86243	GGA		0.373	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			12	136	0	0	0	1	0	12	136				
OR1J4	26219	broad.mit.edu	37	9	125282154	125282154	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:125282154C>T	ENST00000340750.1	+	1	735	c.735C>T	c.(733-735)ctC>ctT	p.L245L		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						GCTCTCACCTCTCTGTGGTGT	0.473																																						ENST00000340750.1																			0				large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						c.(733-735)ctC>ctT		olfactory receptor, family 1, subfamily J, member 4							149.0	139.0	142.0					9																	125282154		2203	4300	6503	SO:0001819	synonymous_variant	26219				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125282154C>T	X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"""GPCR / Class A : Olfactory receptors"""	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.735C>T	9.37:g.125282154C>T							p.L245L	NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN			1	735	+			245					A3KFM0|Q6IEZ3|Q96R89	Silent	SNP	ENST00000340750.1	37	c.735C>T	CCDS35122.1																																																																																				0.473	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053936.1			14	69	0	0	0	1	0	14	69				
COL1A1	1277	broad.mit.edu	37	17	48273984	48273984	+	Silent	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:48273984A>T	ENST00000225964.5	-	12	970	c.852T>A	c.(850-852)ggT>ggA	p.G284G		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	284	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	TTACCTTAGGACCAGCAGGAC	0.507			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(850-852)ggT>ggA		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						236.0	224.0	228.0					17																	48273984		2203	4300	6503	SO:0001819	synonymous_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48273984A>T	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.852T>A	17.37:g.48273984A>T							p.G284G	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			12	970	-			284			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	c.852T>A	CCDS11561.1																																																																																				0.507	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			34	289	0	0	0	1	0	34	289				
HIST1H4B	8366	broad.mit.edu	37	6	26027317	26027317	+	Missense_Mutation	SNP	G	G	A	rs149158970		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:26027317G>A	ENST00000377364.3	-	1	163	c.164C>T	c.(163-165)aCt>aTt	p.T55I		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	55					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)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						AACGCCACGAGTCTCCTCATA	0.562											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377364.3																			0				large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(163-165)aCt>aTt		histone cluster 1, H4b		G	ILE/THR	1,4405	2.1+/-5.4	0,1,2202	91.0	79.0	83.0		164	4.7	1.0	6	dbSNP_134	83	2,8598	2.2+/-6.3	0,2,4298	no	missense	HIST1H4B	NM_003544.2	89	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	possibly-damaging	55/104	26027317	3,13003	2203	4300	6503	SO:0001583	missense	8366				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26027317G>A	X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"""Histones / Replication-dependent"""	4789	protein-coding gene	gene with protein product		602829	"""H4 histone family, member I"", ""histone 1, H4b"""	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.164C>T	6.37:g.26027317G>A	ENSP00000366581:p.Thr55Ile		OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	783		p.T55I	NM_003544.2	NP_003535.1	P62805	H4_HUMAN			1	163	-			55					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377364.3	37	c.164C>T	CCDS4572.1	.	.	.	.	.	.	.	.	.	.	g	18.04	3.535327	0.64972	2.27E-4	2.33E-4	ENSG00000124529	ENST00000377364	T	0.65364	-0.15	4.65	4.65	0.58169	.	0.000000	0.53938	U	0.000042	T	0.69620	0.3131	.	.	.	0.47245	D	0.999369	.	.	.	.	.	.	T	0.71087	-0.4694	7	0.49607	T	0.09	.	17.4106	0.87484	0.0:0.0:1.0:0.0	.	.	.	.	I	55	ENSP00000366581:T55I	ENSP00000366581:T55I	T	-	2	0	HIST1H4B	26135296	1.000000	0.71417	0.970000	0.41538	0.007000	0.05969	9.205000	0.95048	2.506000	0.84524	0.563000	0.77884	ACT		0.562	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040079.2	NM_003544		14	62	0	0	0	1	0	14	62				
PKHD1	5314	broad.mit.edu	37	6	51944776	51944776	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:51944776C>A	ENST00000371117.3	-	5	587	c.312G>T	c.(310-312)ctG>ctT	p.L104L	PKHD1_ENST00000340994.4_Silent_p.L104L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	104	IPT/TIG 1; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCAGGAAGTACAGACCCTCAT	0.488																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(310-312)ctG>ctT		polycystic kidney and hepatic disease 1 (autosomal recessive)							167.0	148.0	154.0					6																	51944776		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51944776C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.312G>T	6.37:g.51944776C>A						PKHD1_ENST00000340994.4_Silent_p.L104L	p.L104L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			5	587	-	Lung NSC(77;0.0605)		104			IPT/TIG 1; atypical.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.312G>T	CCDS4935.1																																																																																				0.488	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		27	121	1	0	4.22769e-11	1	6.12182e-11	27	121				
SDK1	221935	broad.mit.edu	37	7	3991379	3991379	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:3991379G>T	ENST00000404826.2	+	7	1116	c.977G>T	c.(976-978)aGt>aTt	p.S326I	SDK1_ENST00000389531.3_Missense_Mutation_p.S326I	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	326	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GAGGACCTGAGTGTGACCTGG	0.587																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(976-978)aGt>aTt		sidekick cell adhesion molecule 1							79.0	65.0	70.0					7																	3991379		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:3991379G>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.977G>T	7.37:g.3991379G>T	ENSP00000385899:p.Ser326Ile					SDK1_ENST00000389531.3_Missense_Mutation_p.S326I	p.S326I	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	7	1116	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	326			Ig-like C2-type 3.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.977G>T	CCDS34590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.98|12.98	2.100680|2.100680	0.37048|0.37048	.|.	.|.	ENSG00000146555|ENSG00000146555	ENST00000404826;ENST00000389531|ENST00000426596	T;T|.	0.03386|.	3.95;3.95|.	4.87|4.87	3.06|3.06	0.35304|0.35304	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.309004|.	0.32868|.	N|.	0.005549|.	T|T	0.61602|0.61602	0.2360|0.2360	M|M	0.63843|0.63843	1.955|1.955	0.36550|0.36550	D|D	0.871823|0.871823	B|.	0.29805|.	0.257|.	B|.	0.26864|.	0.074|.	T|T	0.63906|0.63906	-0.6531|-0.6531	10|5	0.35671|.	T|.	0.21|.	.|.	9.4561|9.4561	0.38756|0.38756	0.165:0.0:0.835:0.0|0.165:0.0:0.835:0.0	.|.	326|.	Q7Z5N4|.	SDK1_HUMAN|.	I|L	326|45	ENSP00000385899:S326I;ENSP00000374182:S326I|.	ENSP00000374182:S326I|.	S|V	+|+	2|1	0|0	SDK1|SDK1	3957905|3957905	0.992000|0.992000	0.36948|0.36948	0.325000|0.325000	0.25375|0.25375	0.921000|0.921000	0.55340|0.55340	2.179000|2.179000	0.42528|0.42528	0.577000|0.577000	0.29470|0.29470	0.655000|0.655000	0.94253|0.94253	AGT|GTG		0.587	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		10	48	1	0	7.48243e-07	1	9.52095e-07	10	48				
CHD7	55636	broad.mit.edu	37	8	61778055	61778055	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:61778055G>T	ENST00000423902.2	+	38	9036	c.8557G>T	c.(8557-8559)Gag>Tag	p.E2853*	CHD7_ENST00000524602.1_Nonsense_Mutation_p.E804*	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2853					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAATGAAGACGAGAACAAAGA	0.493																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(8557-8559)Gag>Tag		chromodomain helicase DNA binding protein 7							99.0	104.0	102.0					8																	61778055		2096	4227	6323	SO:0001587	stop_gained	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61778055G>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.8557G>T	8.37:g.61778055G>T	ENSP00000392028:p.Glu2853*					CHD7_ENST00000524602.1_Nonsense_Mutation_p.E804*	p.E2853*	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		38	9036	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2853					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Nonsense_Mutation	SNP	ENST00000423902.2	37	c.8557G>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	50	17.156715	0.99880	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602	.	.	.	5.08	5.08	0.68730	.	0.310581	0.31041	N	0.008370	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-23.2641	18.4621	0.90743	0.0:0.0:1.0:0.0	.	.	.	.	X	2853;2853;804	.	ENSP00000307304:E2853X	E	+	1	0	CHD7	61940609	1.000000	0.71417	0.988000	0.46212	0.926000	0.56050	7.125000	0.77193	2.342000	0.79632	0.655000	0.94253	GAG		0.493	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		5	36	1	0	0.014758	1	0.0154462	5	36				
TBX21	30009	broad.mit.edu	37	17	45821647	45821647	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:45821647C>T	ENST00000177694.1	+	4	1066	c.855C>T	c.(853-855)aaC>aaT	p.N285N		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	285					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAGCCTGCAACGCTTCCAACA	0.562																																						ENST00000177694.1																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(853-855)aaC>aaT		T-box 21							99.0	88.0	92.0					17																	45821647		2203	4300	6503	SO:0001819	synonymous_variant	30009				lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr17:45821647C>T	AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"""T-boxes"""	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.855C>T	17.37:g.45821647C>T							p.N285N	NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN			4	1066	+			285						Silent	SNP	ENST00000177694.1	37	c.855C>T	CCDS11514.1																																																																																				0.562	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	NM_013351		9	108	0	0	0	1	0	9	108				
TEX14	56155	broad.mit.edu	37	17	56700249	56700249	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:56700249T>A	ENST00000240361.8	-	4	461	c.376A>T	c.(376-378)Aag>Tag	p.K126*	TEX14_ENST00000389934.3_Nonsense_Mutation_p.K126*|TEX14_ENST00000349033.5_Nonsense_Mutation_p.K126*			Q8IWB6	TEX14_HUMAN	testis expressed 14	126					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCCCAAGTCTTCGGGTTTTGA	0.552																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(376-378)Aag>Tag		testis expressed 14							118.0	87.0	97.0					17																	56700249		2203	4300	6503	SO:0001587	stop_gained	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56700249T>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.376A>T	17.37:g.56700249T>A	ENSP00000240361:p.Lys126*					TEX14_ENST00000240361.8_Nonsense_Mutation_p.K126*|TEX14_ENST00000349033.5_Nonsense_Mutation_p.K126*	p.K126*	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			4	493	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		126					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Nonsense_Mutation	SNP	ENST00000240361.8	37	c.376A>T	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	T	17.99	3.523190	0.64747	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	.	.	.	5.12	3.08	0.35506	.	0.498980	0.20211	N	0.096918	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-0.3498	7.1911	0.25826	0.0793:0.0:0.6078:0.3129	.	.	.	.	X	126	.	ENSP00000240361:K126X	K	-	1	0	TEX14	54055248	0.879000	0.30193	0.628000	0.29241	0.545000	0.35147	1.510000	0.35790	0.642000	0.30620	-0.168000	0.13345	AAG		0.552	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			6	102	0	0	0	1	0	6	102				
GTF2F2	2963	broad.mit.edu	37	13	45841372	45841372	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:45841372A>T	ENST00000340473.6	+	7	632	c.491A>T	c.(490-492)gAa>gTa	p.E164V	GTF2F2_ENST00000494087.1_3'UTR	NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2, 30kDa	164					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)	p.E164A(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		ATATAGATCGAATATGAAAGG	0.333																																						ENST00000340473.6																			1	Substitution - Missense(1)	p.E164A(1)	kidney(1)	breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(490-492)gAa>gTa		general transcription factor IIF, polypeptide 2, 30kDa							81.0	83.0	83.0					13																	45841372		2203	4300	6503	SO:0001583	missense	2963				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding	g.chr13:45841372A>T	X16901	CCDS9395.1	13q14	2012-01-23	2002-08-29		ENSG00000188342	ENSG00000188342		"""General transcription factors"""	4653	protein-coding gene	gene with protein product		189969	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			8162052	Standard	NM_004128		Approved	TFIIF, BTF4, RAP30	uc001uzw.3	P13984	OTTHUMG00000016849	ENST00000340473.6:c.491A>T	13.37:g.45841372A>T	ENSP00000340823:p.Glu164Val					GTF2F2_ENST00000494087.1_3'UTR	p.E164V	NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)	7	632	+		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	164					A6NNS5|Q5W0H3	Missense_Mutation	SNP	ENST00000340473.6	37	c.491A>T	CCDS9395.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.599426	0.46318	.	.	ENSG00000188342	ENST00000340473	.	.	.	5.14	5.14	0.70334	.	0.112278	0.64402	D	0.000011	T	0.68054	0.2959	M	0.77406	2.37	0.58432	D	0.999998	B	0.15719	0.014	B	0.21546	0.035	T	0.65693	-0.6106	9	0.34782	T	0.22	-19.8531	14.1498	0.65375	1.0:0.0:0.0:0.0	.	164	P13984	T2FB_HUMAN	V	164	.	ENSP00000340823:E164V	E	+	2	0	GTF2F2	44739372	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	8.909000	0.92647	1.933000	0.56026	0.383000	0.25322	GAA		0.333	GTF2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044767.2	NM_004128		14	40	0	0	0	1	0	14	40				
WBP2NL	164684	broad.mit.edu	37	22	42418311	42418311	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr22:42418311T>A	ENST00000328823.9	+	5	496	c.465T>A	c.(463-465)taT>taA	p.Y155*	WBP2NL_ENST00000543212.1_Nonsense_Mutation_p.Y81*	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	155					egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						TGGGAATTTATGTAATTACTG	0.418																																						ENST00000328823.9																			0				breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						c.(463-465)taT>taA		WBP2 N-terminal like							140.0	134.0	136.0					22																	42418311		2203	4300	6503	SO:0001587	stop_gained	164684				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	g.chr22:42418311T>A	BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"""postacrosomal sheath WW domain-binding protein"""	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.465T>A	22.37:g.42418311T>A	ENSP00000332983:p.Tyr155*					WBP2NL_ENST00000543212.1_Nonsense_Mutation_p.Y81*	p.Y155*	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN			5	496	+			155					A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Nonsense_Mutation	SNP	ENST00000328823.9	37	c.465T>A	CCDS14029.1	.	.	.	.	.	.	.	.	.	.	T	14.36	2.512029	0.44660	.	.	ENSG00000183066	ENST00000328823;ENST00000543212	.	.	.	3.35	2.31	0.28768	.	2.156020	0.02468	N	0.087230	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.6658	5.3363	0.15959	0.0:0.1313:0.0:0.8687	.	.	.	.	X	155;81	.	ENSP00000332983:Y155X	Y	+	3	2	WBP2NL	40748257	0.000000	0.05858	0.007000	0.13788	0.011000	0.07611	-0.262000	0.08682	0.668000	0.31126	0.528000	0.53228	TAT		0.418	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	NM_152613		20	119	0	0	0	1	0	20	119				
GCC1	79571	broad.mit.edu	37	7	127222068	127222068	+	Nonstop_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:127222068T>C	ENST00000321407.2	-	2	2752	c.2328A>G	c.(2326-2328)tgA>tgG	p.*776W	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	0					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GAAAATGGCATCATCTCTTGC	0.463																																						ENST00000321407.2																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2326-2328)tgA>tgG		GRIP and coiled-coil domain containing 1							115.0	109.0	111.0					7																	127222068		2203	4300	6503	SO:0001578	stop_lost	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127222068T>C	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.2328A>G	7.37:g.127222068T>C	ENSP00000318821:p.*776Cysext*82						p.*776W	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN			2	2752	-			0					Q9H6N7	Nonstop_Mutation	SNP	ENST00000321407.2	37	c.2328A>G	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.234875	0.58886	.	.	ENSG00000179562	ENST00000321407	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5959	0.68407	0.0:0.0:0.0:1.0	.	.	.	.	W	776	.	.	X	-	3	0	GCC1	127009304	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.506000	0.60428	2.333000	0.79357	0.533000	0.62120	TGA		0.463	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		24	54	0	0	0	1	0	24	54				
GALNT15	117248	broad.mit.edu	37	3	16217179	16217179	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:16217179C>A	ENST00000339732.5	+	1	1024	c.521C>A	c.(520-522)cCc>cAc	p.P174H	GALNT15_ENST00000437509.1_Missense_Mutation_p.P174H|GALNT15_ENST00000470031.1_3'UTR	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	174					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										AGGGCTCTGCCCGAGGTGCGG	0.607																																						ENST00000339732.5																			0											c.(520-522)cCc>cAc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15							24.0	21.0	22.0					3																	16217179		2144	4210	6354	SO:0001583	missense	117248							g.chr3:16217179C>A	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.521C>A	3.37:g.16217179C>A	ENSP00000344260:p.Pro174His					GALNT15_ENST00000470031.1_3'UTR|GALNT15_ENST00000437509.1_Missense_Mutation_p.P174H	p.P174H	NM_054110.4	NP_473451.3					1	1024	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	c.521C>A	CCDS33711.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515714	0.44763	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	T;T	0.61274	0.12;0.12	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.73690	0.3619	M	0.69358	2.11	0.41206	D	0.986407	D	0.89917	1.0	D	0.79108	0.992	T	0.78086	-0.2341	10	0.87932	D	0	.	15.7013	0.77544	0.0:1.0:0.0:0.0	.	174	Q8N3T1	GLTL2_HUMAN	H	174	ENSP00000344260:P174H;ENSP00000395873:P174H	ENSP00000344260:P174H	P	+	2	0	GALNTL2	16192183	0.998000	0.40836	0.920000	0.36463	0.185000	0.23345	4.807000	0.62576	2.215000	0.71742	0.442000	0.29010	CCC		0.607	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		7	23	1	0	0.00198382	1	0.00216905	7	23				
NFE2	4778	broad.mit.edu	37	12	54688989	54688989	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:54688989T>A	ENST00000540264.2	-	1	553	c.44A>T	c.(43-45)cAg>cTg	p.Q15L	NFE2_ENST00000312156.4_Missense_Mutation_p.Q15L|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Missense_Mutation_p.Q15L|NFE2_ENST00000553070.1_Missense_Mutation_p.Q15L			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	15	Required for interaction with MAPK8. {ECO:0000250}.|Transactivation domain.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						AGTGGACAGCTGTATCACCCT	0.587																																						ENST00000540264.2																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						c.(43-45)cAg>cTg		nuclear factor, erythroid 2							198.0	135.0	156.0					12																	54688989		2203	4300	6503	SO:0001583	missense	4778				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding	g.chr12:54688989T>A	BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"""basic leucine zipper proteins"""	7780	protein-coding gene	gene with protein product		601490	"""nuclear factor (erythroid-derived 2), 45kD"", ""nuclear factor (erythroid-derived 2), 45kDa"""			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.44A>T	12.37:g.54688989T>A	ENSP00000439120:p.Gln15Leu					RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000312156.4_Missense_Mutation_p.Q15L|NFE2_ENST00000553070.1_Missense_Mutation_p.Q15L|NFE2_ENST00000435572.2_Missense_Mutation_p.Q15L	p.Q15L			Q16621	NFE2_HUMAN			1	553	-			15			Required for interaction with MAPK8 (By similarity).|Transactivation domain.		Q07720|Q6ICV9	Missense_Mutation	SNP	ENST00000540264.2	37	c.44A>T	CCDS8876.1	.	.	.	.	.	.	.	.	.	.	T	0.072	-1.199690	0.01581	.	.	ENSG00000123405	ENST00000312156;ENST00000435572;ENST00000540264;ENST00000553070;ENST00000553198	.	.	.	4.98	3.76	0.43208	.	0.248474	0.26041	N	0.026690	T	0.35799	0.0944	L	0.36672	1.1	0.30460	N	0.774343	B	0.02656	0.0	B	0.01281	0.0	T	0.36601	-0.9741	9	0.54805	T	0.06	-14.8762	9.4887	0.38946	0.1585:0.0:0.0:0.8414	.	15	Q16621	NFE2_HUMAN	L	15	.	ENSP00000312436:Q15L	Q	-	2	0	NFE2	52975256	1.000000	0.71417	0.998000	0.56505	0.053000	0.15095	1.476000	0.35420	2.226000	0.72624	0.460000	0.39030	CAG		0.587	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405747.1	NM_006163		6	52	0	0	0	1	0	6	52				
OR51B5	282763	broad.mit.edu	37	11	5364294	5364294	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:5364294A>C	ENST00000300773.2	-	1	515	c.461T>G	c.(460-462)gTt>gGt	p.V154G	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	154			V -> I (in dbSNP:rs12273630).		detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGGAACAACGGATACAAA	0.438																																						ENST00000300773.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28						c.(460-462)gTt>gGt		olfactory receptor, family 51, subfamily B, member 5							53.0	59.0	57.0					11																	5364294		2201	4297	6498	SO:0001583	missense	282763				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5364294A>C	BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.461T>G	11.37:g.5364294A>C	ENSP00000300773:p.Val154Gly					HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.V154G	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	515	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	154		V -> I (in dbSNP:rs12273630).			B2RN59	Missense_Mutation	SNP	ENST00000300773.2	37	c.461T>G	CCDS31378.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.686106	0.47991	.	.	ENSG00000242180	ENST00000300773	T	0.36878	1.23	4.76	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.194438	0.24818	N	0.035344	T	0.45558	0.1348	L	0.49778	1.585	0.09310	N	0.999999	D	0.53151	0.958	P	0.57468	0.821	T	0.28902	-1.0029	10	0.87932	D	0	.	9.181	0.37141	0.9132:0.0:0.0868:0.0	.	154	Q9H339	O51B5_HUMAN	G	154	ENSP00000300773:V154G	ENSP00000300773:V154G	V	-	2	0	OR51B5	5320870	0.000000	0.05858	0.002000	0.10522	0.854000	0.48673	0.646000	0.24797	0.872000	0.35775	0.529000	0.55759	GTT		0.438	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567		6	77	0	0	0	1	0	6	77				
KLHL14	57565	broad.mit.edu	37	18	30260292	30260292	+	Splice_Site	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:30260292T>C	ENST00000359358.4	-	7	1868		c.e7-2			NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14							endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GTACACCCCCTGTGAAATAAA	0.393																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.e7-2		kelch-like family member 14							143.0	133.0	137.0					18																	30260292		2203	4300	6503	SO:0001630	splice_region_variant	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30260292T>C	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1430-2A>G	18.37:g.30260292T>C								NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			7	1868	-								A6NNW1|B4DHA0|Q8WU41	Splice_Site	SNP	ENST00000359358.4	37		CCDS32813.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814485	0.70912	.	.	ENSG00000197705	ENST00000359358	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4608	0.84044	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KLHL14	28514290	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.621000	0.83083	2.288000	0.76882	0.533000	0.62120	.		0.393	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1		Intron	16	147	0	0	0	1	0	16	147				
ZNF746	155061	broad.mit.edu	37	7	149174789	149174789	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:149174789T>A	ENST00000340622.3	-	5	858	c.578A>T	c.(577-579)gAg>gTg	p.E193V	ZNF746_ENST00000458143.2_Missense_Mutation_p.E193V			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	193					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAGCTGGAGCTCACCCTCCTG	0.662																																						ENST00000340622.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(577-579)gAg>gTg		zinc finger protein 746							23.0	25.0	24.0					7																	149174789		2203	4300	6503	SO:0001583	missense	155061				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr7:149174789T>A	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.578A>T	7.37:g.149174789T>A	ENSP00000345140:p.Glu193Val					ZNF746_ENST00000458143.2_Missense_Mutation_p.E193V	p.E193V			Q6NUN9	ZN746_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		5	858	-	Melanoma(164;0.165)		193					A8K6Z9|Q6ZRF9	Missense_Mutation	SNP	ENST00000340622.3	37	c.578A>T	CCDS5897.1	.	.	.	.	.	.	.	.	.	.	T	16.57	3.161205	0.57368	.	.	ENSG00000181220	ENST00000340622;ENST00000458143	T;T	0.09723	2.96;2.95	4.94	4.94	0.65067	.	0.000000	0.47852	D	0.000201	T	0.19765	0.0475	L	0.44542	1.39	0.38486	D	0.947856	D;D	0.61697	0.99;0.982	P;P	0.61477	0.889;0.778	T	0.04029	-1.0983	10	0.29301	T	0.29	-26.9601	11.0162	0.47689	0.0:0.0:0.0:1.0	.	193;193	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	V	193	ENSP00000345140:E193V;ENSP00000395007:E193V	ENSP00000345140:E193V	E	-	2	0	ZNF746	148805722	0.994000	0.37717	0.998000	0.56505	0.993000	0.82548	2.510000	0.45468	1.854000	0.53819	0.460000	0.39030	GAG		0.662	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		10	31	0	0	0	1	0	10	31				
ZNF423	23090	broad.mit.edu	37	16	49671734	49671734	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:49671734A>T	ENST00000561648.1	-	4	1382	c.1329T>A	c.(1327-1329)tgT>tgA	p.C443*	ZNF423_ENST00000562520.1_Nonsense_Mutation_p.C383*|ZNF423_ENST00000262383.2_Nonsense_Mutation_p.C443*|ZNF423_ENST00000535559.1_Nonsense_Mutation_p.C326*|ZNF423_ENST00000563137.2_Nonsense_Mutation_p.C383*|ZNF423_ENST00000562871.1_Nonsense_Mutation_p.C383*|ZNF423_ENST00000567169.1_Nonsense_Mutation_p.C326*	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	443					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGCAGATCTGACATGTGTGGC	0.572																																						ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(1327-1329)tgT>tgA		zinc finger protein 423							136.0	119.0	125.0					16																	49671734		2198	4300	6498	SO:0001587	stop_gained	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49671734A>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1329T>A	16.37:g.49671734A>T	ENSP00000455426:p.Cys443*					ZNF423_ENST00000563137.2_Nonsense_Mutation_p.C383*|ZNF423_ENST00000535559.1_Nonsense_Mutation_p.C326*|ZNF423_ENST00000262383.2_Nonsense_Mutation_p.C443*|ZNF423_ENST00000567169.1_Nonsense_Mutation_p.C326*|ZNF423_ENST00000562520.1_Nonsense_Mutation_p.C383*|ZNF423_ENST00000562871.1_Nonsense_Mutation_p.C383*	p.C443*	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	1382	-		all_cancers(37;0.0155)	443					O94860|Q76N04|Q9NZ13	Nonsense_Mutation	SNP	ENST00000561648.1	37	c.1329T>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	A	39	7.653838	0.98412	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	.	.	.	5.05	-2.46	0.06461	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2545	0.60070	0.2963:0.0:0.7037:0.0	.	.	.	.	X	443;326	.	.	C	-	3	2	ZNF423	48229235	0.999000	0.42202	0.983000	0.44433	0.962000	0.63368	0.728000	0.26013	-0.672000	0.05266	-0.379000	0.06801	TGT		0.572	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		11	66	0	0	0	1	0	11	66				
ABTB1	80325	broad.mit.edu	37	3	127399180	127399180	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:127399180G>T	ENST00000232744.8	+	12	1385	c.1299G>T	c.(1297-1299)gaG>gaT	p.E433D	ABTB1_ENST00000468137.1_Missense_Mutation_p.E291D|ABTB1_ENST00000453791.2_Missense_Mutation_p.E291D|ABTB1_ENST00000393363.3_Missense_Mutation_p.E291D					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CCCGGCAGGAGACGGACTCTA	0.677																																						ENST00000468137.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						c.(871-873)gaG>gaT		ankyrin repeat and BTB (POZ) domain containing 1							43.0	40.0	41.0					3																	127399180		2197	4294	6491	SO:0001583	missense	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127399180G>T	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.1299G>T	3.37:g.127399180G>T	ENSP00000232744:p.Glu433Asp					ABTB1_ENST00000453791.2_Missense_Mutation_p.E291D|ABTB1_ENST00000393363.3_Missense_Mutation_p.E291D|ABTB1_ENST00000232744.8_Missense_Mutation_p.E433D	p.E291D			Q969K4	ABTB1_HUMAN			11	1489	+			433			BTB 2.			Missense_Mutation	SNP	ENST00000232744.8	37	c.873G>T	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509334	0.64522	.	.	ENSG00000114626	ENST00000361019;ENST00000393363;ENST00000232744;ENST00000453791;ENST00000468137	T;T;T;T	0.65549	-0.16;0.17;-0.16;-0.16	4.53	4.53	0.55603	.	0.059016	0.64402	D	0.000003	T	0.77075	0.4077	M	0.73319	2.225	0.50632	D	0.999887	D;D;D	0.76494	0.999;0.998;0.999	D;P;D	0.69824	0.94;0.899;0.966	T	0.76675	-0.2872	10	0.33940	T	0.23	-0.7099	17.2816	0.87130	0.0:0.0:1.0:0.0	.	269;433;408	C9JBQ0;Q969K4;Q969K4-3	.;ABTB1_HUMAN;.	D	269;291;433;291;291	ENSP00000377030:E291D;ENSP00000232744:E433D;ENSP00000412684:E291D;ENSP00000417366:E291D	ENSP00000232744:E433D	E	+	3	2	ABTB1	128881870	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	5.219000	0.65262	2.062000	0.61559	0.591000	0.81541	GAG		0.677	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		4	17	1	0	0.000602214	1	0.000673014	4	17				
KDM1A	23028	broad.mit.edu	37	1	23383993	23383993	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:23383993G>T	ENST00000356634.3	+	7	1096	c.947G>T	c.(946-948)cGa>cTa	p.R316L	MIR4419A_ENST00000583845.1_RNA|KDM1A_ENST00000400181.4_Missense_Mutation_p.R336L|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Missense_Mutation_p.R336L	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	316	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GTGGGTGGACGAGTTGCCACA	0.428																																						ENST00000400181.4																			0				breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1006-1008)cGa>cTa		lysine (K)-specific demethylase 1A							206.0	194.0	198.0					1																	23383993		2203	4300	6503	SO:0001583	missense	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23383993G>T	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.947G>T	1.37:g.23383993G>T	ENSP00000349049:p.Arg316Leu					KDM1A_ENST00000356634.3_Missense_Mutation_p.R316L|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Missense_Mutation_p.R336L	p.R336L	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN			8	1111	+			316			Demethylase activity.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	37	c.1007G>T	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	G	35	5.433998	0.96150	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	D;D;D	0.97598	-4.45;-4.45;-4.45	5.48	5.48	0.80851	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.99020	0.9665	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.98;0.988	D	0.99441	1.0938	10	0.87932	D	0	-9.5301	18.3409	0.90304	0.0:0.0:1.0:0.0	.	336;316	O60341-2;O60341	.;KDM1A_HUMAN	L	316;336;336	ENSP00000349049:R316L;ENSP00000383042:R336L;ENSP00000439072:R336L	ENSP00000349049:R316L	R	+	2	0	KDM1A	23256580	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.634000	0.98435	2.572000	0.86782	0.585000	0.79938	CGA		0.428	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		6	41	1	0	0.0293803	1	0.0303184	6	41				
KY	339855	broad.mit.edu	37	3	134338041	134338041	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:134338041G>A	ENST00000423778.2	-	8	720	c.659C>T	c.(658-660)aCc>aTc	p.T220I	KY_ENST00000503669.1_Missense_Mutation_p.T220I|KY_ENST00000508041.1_5'UTR|KY_ENST00000508956.1_Missense_Mutation_p.T199I	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	220					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GGTCTTCTGGGTCCGCAGGAT	0.562																																						ENST00000508956.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(595-597)aCc>aTc		kyphoscoliosis peptidase							165.0	170.0	169.0					3																	134338041		2123	4231	6354	SO:0001583	missense	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134338041G>A	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.659C>T	3.37:g.134338041G>A	ENSP00000397598:p.Thr220Ile					KY_ENST00000508041.1_5'UTR|KY_ENST00000503669.1_Missense_Mutation_p.T220I|KY_ENST00000423778.2_Missense_Mutation_p.T220I	p.T199I			Q8NBH2	KY_HUMAN			7	653	-			220					B7Z1S4|Q6ZT15	Missense_Mutation	SNP	ENST00000423778.2	37	c.596C>T	CCDS46920.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553931	0.45487	.	.	ENSG00000174611	ENST00000508956;ENST00000423778;ENST00000503669;ENST00000310263	T;T;T	0.25749	1.78;1.78;1.78	4.61	0.281	0.15687	.	0.410173	0.23448	N	0.048078	T	0.36880	0.0983	M	0.75884	2.315	0.30323	N	0.787414	P;D;P	0.56746	0.818;0.977;0.673	B;P;B	0.54544	0.386;0.755;0.308	T	0.36578	-0.9742	10	0.72032	D	0.01	-3.7086	7.4747	0.27369	0.0763:0.3909:0.4346:0.0981	.	199;220;220	Q8NBH2-3;B4DGA7;Q8NBH2-4	.;.;.	I	199;220;220;220	ENSP00000421297:T199I;ENSP00000397598:T220I;ENSP00000426777:T220I	ENSP00000309520:T220I	T	-	2	0	KY	135820731	0.995000	0.38212	0.998000	0.56505	0.638000	0.38207	0.415000	0.21181	0.343000	0.23821	-0.502000	0.04539	ACC		0.562	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		10	94	0	0	0	1	0	10	94				
UBASH3A	53347	broad.mit.edu	37	21	43833586	43833586	+	Silent	SNP	C	C	T	rs144816086	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:43833586C>T	ENST00000319294.6	+	5	652	c.621C>T	c.(619-621)agC>agT	p.S207S	UBASH3A_ENST00000398367.1_Intron|UBASH3A_ENST00000291535.6_Intron	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	207					negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.S207R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TGAGGCTGAGCAATTTAACTA	0.532																																						ENST00000319294.6																			1	Substitution - Missense(1)	p.S207R(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						c.(619-621)agC>agT		ubiquitin associated and SH3 domain containing A		C	,	0,4406		0,0,2203	51.0	49.0	50.0		,621	0.8	0.0	21	dbSNP_134	50	3,8597	3.0+/-9.4	0,3,4297	no	intron,coding-synonymous	UBASH3A	NM_001001895.2,NM_018961.3	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	,207/662	43833586	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	53347					cytosol|nucleus		g.chr21:43833586C>T	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.621C>T	21.37:g.43833586C>T						UBASH3A_ENST00000398367.1_Intron|UBASH3A_ENST00000291535.6_Intron	p.S207S	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN			5	652	+			207					G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Silent	SNP	ENST00000319294.6	37	c.621C>T	CCDS13687.1																																																																																				0.532	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		8	37	0	0	0	1	0	8	37				
SYNE1	23345	broad.mit.edu	37	6	152826383	152826383	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:152826383G>T	ENST00000367255.5	-	9	1332	c.731C>A	c.(730-732)aCt>aAt	p.T244N	SYNE1_ENST00000423061.1_Missense_Mutation_p.T251N|SYNE1_ENST00000367253.4_Missense_Mutation_p.T244N|SYNE1_ENST00000413186.2_Missense_Mutation_p.T244N|SYNE1_ENST00000341594.5_Missense_Mutation_p.T244N|SYNE1_ENST00000367248.3_Missense_Mutation_p.T251N|SYNE1_ENST00000265368.4_Missense_Mutation_p.T244N|SYNE1_ENST00000448038.1_Missense_Mutation_p.T251N|SYNE1_ENST00000466159.2_Missense_Mutation_p.T244N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	244	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCGGCGATAGTGAAAGCATC	0.443										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(730-732)aCt>aAt		spectrin repeat containing, nuclear envelope 1							148.0	133.0	138.0					6																	152826383		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152826383G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.731C>A	6.37:g.152826383G>T	ENSP00000356224:p.Thr244Asn	HNSCC(10;0.0054)				SYNE1_ENST00000367248.3_Missense_Mutation_p.T251N|SYNE1_ENST00000423061.1_Missense_Mutation_p.T251N|SYNE1_ENST00000413186.2_Missense_Mutation_p.T244N|SYNE1_ENST00000341594.5_Missense_Mutation_p.T244N|SYNE1_ENST00000367253.4_Missense_Mutation_p.T244N|SYNE1_ENST00000466159.2_Missense_Mutation_p.T244N|SYNE1_ENST00000448038.1_Missense_Mutation_p.T251N|SYNE1_ENST00000265368.4_Missense_Mutation_p.T244N	p.T244N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	9	1332	-		Ovarian(120;0.0955)	244			Actin-binding.|CH 2.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.731C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	4.662	0.123013	0.08931	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	D;D;D;D;D;D;D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44;-3.44;-3.44;-3.44;-3.44;-3.44;-3.44	5.74	3.93	0.45458	Calponin homology domain (5);	0.288263	0.29822	N	0.011102	T	0.79981	0.4540	N	0.14661	0.345	0.24908	N	0.992067	B;B;B;B;P	0.39862	0.076;0.084;0.253;0.084;0.692	B;B;B;B;B	0.36666	0.112;0.084;0.168;0.084;0.23	T	0.73569	-0.3941	10	0.16896	T	0.51	.	16.4323	0.83853	0.0:0.2481:0.7519:0.0	.	244;244;244;244;251	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	N	244;251;244;251;244;244;251;244;244;244	ENSP00000356224:T244N;ENSP00000396024:T251N;ENSP00000265368:T244N;ENSP00000390975:T251N;ENSP00000341887:T244N;ENSP00000356222:T244N;ENSP00000356217:T251N;ENSP00000414510:T244N;ENSP00000446021:T244N;ENSP00000441264:T244N	ENSP00000265368:T244N	T	-	2	0	SYNE1	152868076	0.085000	0.21516	0.513000	0.27749	0.089000	0.18198	1.944000	0.40263	0.762000	0.33152	-0.168000	0.13345	ACT		0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		12	37	1	0	2.27111e-07	1	2.94552e-07	12	37				
NCCRP1	342897	broad.mit.edu	37	19	39688732	39688732	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:39688732C>T	ENST00000339852.4	+	2	399	c.377C>T	c.(376-378)aCc>aTc	p.T126I		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	126	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						ACTGGTCCCACCCAGCGACCC	0.622																																					Melanoma(107;1207 1556 14956 29427 52130)	ENST00000339852.4																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(376-378)aCc>aTc		non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)							99.0	105.0	103.0					19																	39688732		2203	4300	6503	SO:0001583	missense	342897				protein catabolic process			g.chr19:39688732C>T	AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.377C>T	19.37:g.39688732C>T	ENSP00000342137:p.Thr126Ile						p.T126I	NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN			2	399	+			126			FBA.		Q6NVV5	Missense_Mutation	SNP	ENST00000339852.4	37	c.377C>T	CCDS12529.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032688	0.54790	.	.	ENSG00000188505	ENST00000339852	T	0.29655	1.56	4.29	4.29	0.51040	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.530274	0.18856	N	0.129250	T	0.32010	0.0815	L	0.50333	1.59	0.35804	D	0.823336	P	0.43231	0.801	B	0.43701	0.428	T	0.40251	-0.9573	10	0.38643	T	0.18	-9.2606	12.0875	0.53706	0.0:1.0:0.0:0.0	.	126	Q6ZVX7	NCRP1_HUMAN	I	126	ENSP00000342137:T126I	ENSP00000342137:T126I	T	+	2	0	NCCRP1	44380572	0.911000	0.30947	0.994000	0.49952	0.887000	0.51463	2.065000	0.41442	2.205000	0.71048	0.561000	0.74099	ACC		0.622	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463829.1	NM_001001414		21	178	0	0	0	1	0	21	178				
ADNP	23394	broad.mit.edu	37	20	49508324	49508324	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr20:49508324G>A	ENST00000396029.3	-	5	3494	c.2927C>T	c.(2926-2928)cCt>cTt	p.P976L	ADNP_ENST00000371602.4_Missense_Mutation_p.P976L|ADNP_ENST00000396032.3_Missense_Mutation_p.P976L|ADNP_ENST00000349014.3_Missense_Mutation_p.P976L	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	976					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TTGGGATCCAGGCCCACTCTC	0.488																																						ENST00000396029.3																			0				NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(2926-2928)cCt>cTt		activity-dependent neuroprotector homeobox							159.0	145.0	150.0					20																	49508324		2203	4300	6503	SO:0001583	missense	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49508324G>A	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.2927C>T	20.37:g.49508324G>A	ENSP00000379346:p.Pro976Leu					ADNP_ENST00000396032.3_Missense_Mutation_p.P976L|ADNP_ENST00000349014.3_Missense_Mutation_p.P976L|ADNP_ENST00000371602.4_Missense_Mutation_p.P976L	p.P976L	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN			5	3494	-			976					E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	c.2927C>T	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208870	0.58343	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.17	5.22	0.72569	.	0.092808	0.48286	D	0.000190	T	0.44117	0.1278	N	0.14661	0.345	0.47037	D	0.99929	B	0.19331	0.035	B	0.17433	0.018	T	0.31861	-0.9928	9	0.52906	T	0.07	-14.9354	17.0431	0.86495	0.0:0.0:0.8718:0.1282	.	976	Q9H2P0	ADNP_HUMAN	L	976	.	ENSP00000342905:P976L	P	-	2	0	ADNP	48941731	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.669000	0.54561	1.610000	0.50200	0.655000	0.94253	CCT		0.488	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		11	139	0	0	0	1	0	11	139				
DCC	1630	broad.mit.edu	37	18	51052999	51052999	+	Missense_Mutation	SNP	C	C	A	rs387906555		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:51052999C>A	ENST00000442544.2	+	28	4740	c.4124C>A	c.(4123-4125)cCt>cAt	p.P1375H	DCC_ENST00000581580.1_Missense_Mutation_p.P1008H|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1375			P -> H (in a colorectal carcinoma). {ECO:0000269|PubMed:8188295}.		anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCCACTCTTCCTAAGACCCAT	0.458																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(4123-4125)cCt>cAt		deleted in colorectal carcinoma							107.0	103.0	104.0					18																	51052999		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:51052999C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.4124C>A	18.37:g.51052999C>A	ENSP00000389140:p.Pro1375His					RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.P1008H	p.P1375H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	28	4740	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1375		P -> H (in a colorectal carcinoma).				Missense_Mutation	SNP	ENST00000442544.2	37	c.4124C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308019	0.40895	.	.	ENSG00000187323	ENST00000442544	T	0.46063	0.88	5.53	5.53	0.82687	Neogenin, C-terminal (1);	0.163605	0.38663	N	0.001605	T	0.40670	0.1126	L	0.31664	0.95	0.43088	D	0.994754	P	0.37612	0.602	P	0.45377	0.478	T	0.09037	-1.0693	10	0.13470	T	0.59	-3.1301	18.261	0.90035	0.0:1.0:0.0:0.0	.	1375	P43146	DCC_HUMAN	H	1375	ENSP00000389140:P1375H	ENSP00000389140:P1375H	P	+	2	0	DCC	49306997	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.540000	0.73861	2.596000	0.87737	0.655000	0.94253	CCT		0.458	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		11	73	1	0	1.05317e-09	1	1.4851e-09	11	73				
CA8	767	broad.mit.edu	37	8	61178546	61178546	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:61178546A>T	ENST00000317995.4	-	3	619	c.355T>A	c.(355-357)Tgg>Agg	p.W119R		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	119					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	TCTCTTCCCCAGTGAAATCTC	0.393																																						ENST00000317995.4																			0				endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16						c.(355-357)Tgg>Agg		carbonic anhydrase VIII							75.0	73.0	74.0					8																	61178546		2203	4300	6503	SO:0001583	missense	767				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:61178546A>T	L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"""Carbonic anhydrases"""	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.355T>A	8.37:g.61178546A>T	ENSP00000314407:p.Trp119Arg						p.W119R	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN			3	619	-		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)	119					A8K0A5|B3KQZ7|Q32MY2	Missense_Mutation	SNP	ENST00000317995.4	37	c.355T>A	CCDS6174.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.908925	0.92107	.	.	ENSG00000178538	ENST00000317995	D	0.82619	-1.63	5.58	5.58	0.84498	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.94215	0.8143	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96057	0.9036	10	0.87932	D	0	.	15.7706	0.78164	1.0:0.0:0.0:0.0	.	119	P35219	CAH8_HUMAN	R	119	ENSP00000314407:W119R	ENSP00000314407:W119R	W	-	1	0	CA8	61341100	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.137000	0.66172	0.455000	0.32223	TGG		0.393	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1			7	43	0	0	0	1	0	7	43				
LRP1	4035	broad.mit.edu	37	12	57532247	57532247	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:57532247A>T	ENST00000243077.3	+	2	539	c.73A>T	c.(73-75)Aag>Tag	p.K25*	LRP1_ENST00000553277.1_Nonsense_Mutation_p.K25*|LRP1_ENST00000338962.4_Nonsense_Mutation_p.K25*|LRP1_ENST00000554174.1_Nonsense_Mutation_p.K25*	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	25	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTAGCCCCTAAGACTTGCAG	0.527																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(73-75)Aag>Tag		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						146.0	147.0	147.0					12																	57532247		2203	4300	6503	SO:0001587	stop_gained	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57532247A>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.73A>T	12.37:g.57532247A>T	ENSP00000243077:p.Lys25*					LRP1_ENST00000553277.1_Nonsense_Mutation_p.K25*|LRP1_ENST00000554174.1_Nonsense_Mutation_p.K25*|LRP1_ENST00000338962.4_Nonsense_Mutation_p.K25*	p.K25*	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	2	539	+			25			LDL-receptor class A 1.		Q2PP12|Q86SW0|Q8IVG8	Nonsense_Mutation	SNP	ENST00000243077.3	37	c.73A>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	A	38	6.636539	0.97722	.	.	ENSG00000123384	ENST00000553277;ENST00000243077;ENST00000338962;ENST00000554174	.	.	.	5.11	5.11	0.69529	.	0.074542	0.49916	D	0.000127	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.487	0.61371	1.0:0.0:0.0:0.0	.	.	.	.	X	25	.	ENSP00000243077:K25X	K	+	1	0	LRP1	55818514	1.000000	0.71417	0.999000	0.59377	0.814000	0.46013	8.654000	0.91092	2.234000	0.73211	0.459000	0.35465	AAG		0.527	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		13	140	0	0	0	1	0	13	140				
C10orf111	221060	broad.mit.edu	37	10	15138705	15138705	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:15138705T>G	ENST00000378207.3	-	2	392	c.119A>C	c.(118-120)aAg>aCg	p.K40T	RPP38_ENST00000378202.5_5'Flank|RPP38_ENST00000378197.4_5'Flank	NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN	chromosome 10 open reading frame 111	40						integral component of membrane (GO:0016021)				lung(5)|upper_aerodigestive_tract(1)	6						TCTTACTGCCTTTCTCTTTTC	0.502																																						ENST00000378207.3																			0				lung(5)|upper_aerodigestive_tract(1)	6						c.(118-120)aAg>aCg		chromosome 10 open reading frame 111							163.0	151.0	155.0					10																	15138705		2203	4300	6503	SO:0001583	missense	221060					integral to membrane		g.chr10:15138705T>G	BC029034	CCDS7107.1	10p13	2004-04-20			ENSG00000176236	ENSG00000176236			28582	protein-coding gene	gene with protein product						12477932	Standard	NM_153244		Approved	MGC35468, bA455B2.4	uc001inw.3	Q8N326	OTTHUMG00000017727	ENST00000378207.3:c.119A>C	10.37:g.15138705T>G	ENSP00000367449:p.Lys40Thr						p.K40T	NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN			2	392	-			40					B2RAC4	Missense_Mutation	SNP	ENST00000378207.3	37	c.119A>C	CCDS7107.1	.	.	.	.	.	.	.	.	.	.	T	5.978	0.364464	0.11296	.	.	ENSG00000176236	ENST00000378207	T	0.55234	0.53	2.21	-1.56	0.08532	.	.	.	.	.	T	0.21841	0.0526	N	0.08118	0	0.09310	N	1	P	0.50710	0.938	B	0.34931	0.192	T	0.19549	-1.0302	9	0.87932	D	0	.	2.8551	0.05570	0.0:0.334:0.2613:0.4047	.	40	Q8N326	CJ111_HUMAN	T	40	ENSP00000367449:K40T	ENSP00000367449:K40T	K	-	2	0	C10orf111	15178711	0.001000	0.12720	0.000000	0.03702	0.018000	0.09664	0.442000	0.21628	-0.411000	0.07530	0.260000	0.18958	AAG		0.502	C10orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046975.1	NM_153244		14	71	0	0	0	1	0	14	71				
SGMS1-AS1	104355295	broad.mit.edu	37	10	52389533	52389533	+	RNA	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:52389533G>T	ENST00000443374.2	+	0	722				RP11-50E11.3_ENST00000609579.1_RNA																							TCTTCAAGAAGGGGACCTTGC	0.473																																						ENST00000443374.1																			0																																																			104355295							g.chr10:52389533G>T																													10.37:g.52389533G>T														0	226	+									RNA	SNP	ENST00000443374.2	37																																																																																						0.473	RP11-50E11.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000048071.2			8	55	1	0	0.00307968	1	0.00332671	8	55				
OR2T27	403239	broad.mit.edu	37	1	248814116	248814116	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:248814116G>A	ENST00000344889.3	-	1	69	c.70C>T	c.(70-72)Ccc>Tcc	p.P24S		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P24S(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAAGCCAGGGGAAACGGGCG	0.493																																						ENST00000344889.3																			1	Substitution - Missense(1)	p.P24S(1)	skin(1)	breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(70-72)Ccc>Tcc		olfactory receptor, family 2, subfamily T, member 27							109.0	98.0	101.0					1																	248814116		2203	4300	6503	SO:0001583	missense	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248814116G>A		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.70C>T	1.37:g.248814116G>A	ENSP00000342008:p.Pro24Ser						p.P24S	NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	69	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	24						Missense_Mutation	SNP	ENST00000344889.3	37	c.70C>T	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.128539	0.00342	.	.	ENSG00000187701	ENST00000344889	T	0.00314	8.14	3.3	2.35	0.29111	.	0.000000	0.39341	N	0.001397	T	0.00109	0.0003	N	0.12471	0.22	0.09310	N	1	B	0.16802	0.019	B	0.17979	0.02	T	0.10613	-1.0622	10	0.09084	T	0.74	.	7.1833	0.25784	0.0:0.1887:0.6172:0.1941	.	24	Q8NH04	O2T27_HUMAN	S	24	ENSP00000342008:P24S	ENSP00000342008:P24S	P	-	1	0	OR2T27	246880739	0.005000	0.15991	0.280000	0.24747	0.114000	0.19823	1.126000	0.31344	0.699000	0.31761	0.194000	0.17425	CCC		0.493	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		14	93	0	0	0	1	0	14	93				
GJA1	2697	broad.mit.edu	37	6	121768579	121768579	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:121768579G>T	ENST00000282561.3	+	2	743	c.586G>T	c.(586-588)Gtg>Ttg	p.V196L		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	196					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CCCACATCAGGTGGACTGTTT	0.483																																						ENST00000282561.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33						c.(586-588)Gtg>Ttg		gap junction protein, alpha 1, 43kDa	Carvedilol(DB01136)						137.0	130.0	132.0					6																	121768579		2203	4300	6503	SO:0001583	missense	2697				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	g.chr6:121768579G>T	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.586G>T	6.37:g.121768579G>T	ENSP00000282561:p.Val196Leu						p.V196L	NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN		GBM - Glioblastoma multiforme(226;0.00252)	2	743	+			196					B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	c.586G>T	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043042	0.75732	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.96992	-4.2	5.81	5.81	0.92471	Gap junction protein, cysteine-rich domain (1);Connexin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98311	0.9440	M	0.93678	3.445	0.80722	D	1	D	0.55605	0.972	P	0.56163	0.793	D	0.98888	1.0772	10	0.87932	D	0	.	20.0796	0.97766	0.0:0.0:1.0:0.0	.	196	P17302	CXA1_HUMAN	L	180;196	ENSP00000282561:V196L	ENSP00000282561:V196L	V	+	1	0	GJA1	121810278	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	7.950000	0.87804	2.758000	0.94735	0.460000	0.39030	GTG		0.483	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		14	109	1	0	3.35478e-16	1	5.16316e-16	14	109				
CD244	51744	broad.mit.edu	37	1	160811021	160811021	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:160811021C>T	ENST00000368033.3	-	3	731	c.649G>A	c.(649-651)Gac>Aac	p.D217N	CD244_ENST00000481677.1_5'Flank|CD244_ENST00000368034.4_Missense_Mutation_p.D212N|CD244_ENST00000368032.2_Missense_Mutation_p.D212N|CD244_ENST00000322302.7_Intron			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	217					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTCTGACAGTCCTGAGTGAGA	0.512																																						ENST00000368034.4																			0				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18						c.(634-636)Gac>Aac		CD244 molecule, natural killer cell receptor 2B4							136.0	104.0	115.0					1																	160811021		2203	4300	6503	SO:0001583	missense	51744				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	g.chr1:160811021C>T	AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.649G>A	1.37:g.160811021C>T	ENSP00000357012:p.Asp217Asn					CD244_ENST00000368032.2_Missense_Mutation_p.D212N|CD244_ENST00000368033.3_Missense_Mutation_p.D217N|CD244_ENST00000322302.7_Intron	p.D212N	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		3	811	-	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		217			Ig-like 2.		Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	ENST00000368033.3	37	c.634G>A	CCDS53399.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.584543	0.28268	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000368032	T;T;T	0.37915	1.17;1.17;1.17	4.21	0.0534	0.14306	.	1.996540	0.02026	N	0.048219	T	0.06325	0.0163	N	0.14661	0.345	0.09310	N	1	P;P	0.38767	0.514;0.646	B;B	0.35114	0.096;0.196	T	0.06625	-1.0816	10	0.17369	T	0.5	-10.5125	4.2366	0.10628	0.0:0.5338:0.1692:0.297	.	217;212	Q9BZW8;Q9BZW8-2	CD244_HUMAN;.	N	212;217;212	ENSP00000357013:D212N;ENSP00000357012:D217N;ENSP00000357011:D212N	ENSP00000357011:D212N	D	-	1	0	CD244	159077645	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.177000	0.09796	-0.066000	0.12998	-0.140000	0.14226	GAC		0.512	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1	NM_016382		9	62	0	0	0	1	0	9	62				
TSHZ3	57616	broad.mit.edu	37	19	31769440	31769440	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:31769440T>A	ENST00000240587.4	-	2	1586	c.1259A>T	c.(1258-1260)aAa>aTa	p.K420I		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	420					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTTCCCCTTTTTCATAGCAGA	0.572																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1258-1260)aAa>aTa		teashirt zinc finger homeobox 3							124.0	116.0	119.0					19																	31769440		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769440T>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1259A>T	19.37:g.31769440T>A	ENSP00000240587:p.Lys420Ile						p.K420I	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1586	-	Esophageal squamous(110;0.226)		420					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.1259A>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	T	17.01	3.278576	0.59758	.	.	ENSG00000121297	ENST00000240587	T	0.26518	1.73	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.37376	0.1001	N	0.24115	0.695	0.80722	D	1	D	0.67145	0.996	D	0.70016	0.967	T	0.30563	-0.9974	10	0.87932	D	0	-35.3283	15.5394	0.76031	0.0:0.0:0.0:1.0	.	420	Q63HK5	TSH3_HUMAN	I	420	ENSP00000240587:K420I	ENSP00000240587:K420I	K	-	2	0	TSHZ3	36461280	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.671000	0.83941	2.061000	0.61500	0.533000	0.62120	AAA		0.572	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		55	133	0	0	0	1	0	55	133				
MUC3A	4584	broad.mit.edu	37	7	100606798	100606798	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:100606798C>G	ENST00000319509.7	+	4	1888	c.1888C>G	c.(1888-1890)Ctg>Gtg	p.L630V	RP11-395B7.2_ENST00000434775.1_RNA|RP11-395B7.2_ENST00000420080.1_RNA			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	2295	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GATCCTGTCCCTGAGGTAGGA	0.507																																						ENST00000319509.7																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(1888-1890)Ctg>Gtg		mucin 3A, cell surface associated							29.0	25.0	26.0					7																	100606798		876	1988	2864	SO:0001583	missense	4584							g.chr7:100606798C>G	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.1888C>G	7.37:g.100606798C>G	ENSP00000324834:p.Leu630Val						p.L630V							4	1888	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Missense_Mutation	SNP	ENST00000319509.7	37	c.1888C>G		.	.	.	.	.	.	.	.	.	.	-	15.50	2.852366	0.51270	.	.	ENSG00000169894	ENST00000319509;ENST00000422757	T;T	0.51817	0.69;0.69	1.66	-0.424	0.12321	SEA (3);	.	.	.	.	T	0.53417	0.1795	.	.	.	0.30392	N	0.780896	D	0.57571	0.98	P	0.61940	0.896	T	0.54990	-0.8210	7	0.49607	T	0.09	-8.5618	2.2007	0.03922	0.3015:0.497:0.0:0.2016	.	2295	Q02505	MUC3A_HUMAN	V	630;120	ENSP00000324834:L630V;ENSP00000406404:L120V	ENSP00000324834:L630V	L	+	1	2	MUC3A	100393518	0.263000	0.24083	0.705000	0.30386	0.720000	0.41350	-0.818000	0.04467	-0.134000	0.11516	-0.745000	0.03516	CTG		0.507	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		4	16	0	0	0	1	0	4	16				
SMARCA4	6597	broad.mit.edu	37	19	11132537	11132537	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:11132537T>G	ENST00000429416.3	+	20	3034	c.2753T>G	c.(2752-2754)cTt>cGt	p.L918R	SMARCA4_ENST00000450717.3_Missense_Mutation_p.L918R|SMARCA4_ENST00000590574.1_Missense_Mutation_p.L918R|SMARCA4_ENST00000589677.1_Missense_Mutation_p.L918R|SMARCA4_ENST00000344626.4_Missense_Mutation_p.L918R|SMARCA4_ENST00000541122.2_Missense_Mutation_p.L918R|SMARCA4_ENST00000444061.3_Missense_Mutation_p.L918R|SMARCA4_ENST00000358026.2_Missense_Mutation_p.L918R|SMARCA4_ENST00000413806.3_Missense_Mutation_p.L918R	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	918	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CAGAACAAGCTTCCCGAGCTC	0.612			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(2752-2754)cTt>cGt		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							91.0	71.0	78.0					19																	11132537		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11132537T>G	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2753T>G	19.37:g.11132537T>G	ENSP00000395654:p.Leu918Arg					SMARCA4_ENST00000344626.4_Missense_Mutation_p.L918R|SMARCA4_ENST00000589677.1_Missense_Mutation_p.L918R|SMARCA4_ENST00000413806.3_Missense_Mutation_p.L918R|SMARCA4_ENST00000444061.3_Missense_Mutation_p.L918R|SMARCA4_ENST00000541122.2_Missense_Mutation_p.L918R|SMARCA4_ENST00000429416.3_Missense_Mutation_p.L918R|SMARCA4_ENST00000590574.1_Missense_Mutation_p.L918R|SMARCA4_ENST00000450717.3_Missense_Mutation_p.L918R	p.L918R	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			19	3037	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	918			Helicase ATP-binding.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2753T>G	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	T	15.70	2.909864	0.52439	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	4.51	4.51	0.55191	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000003	D	0.98435	0.9479	H	0.99182	4.46	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.997;0.999;0.999;0.999	D	0.98945	1.0792	10	0.87932	D	0	-25.9325	12.9431	0.58357	0.0:0.0:0.0:1.0	.	918;918;918;918;918;138;918;918	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	R	918;918;982;918;918;918;918;918	ENSP00000395654:L918R;ENSP00000350720:L918R;ENSP00000343896:L918R;ENSP00000445036:L918R;ENSP00000392837:L918R;ENSP00000397783:L918R;ENSP00000414727:L918R	ENSP00000343896:L918R	L	+	2	0	SMARCA4	10993537	1.000000	0.71417	0.880000	0.34516	0.045000	0.14185	7.868000	0.87116	1.902000	0.55061	0.533000	0.62120	CTT		0.612	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		8	36	0	0	0	1	0	8	36				
PCDHGC5	56097	broad.mit.edu	37	5	140868991	140868991	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140868991C>T	ENST00000252087.1	+	1	184	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	62	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGTTGAGCCGGCGGCTGCA	0.547																																						ENST00000252087.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(184-186)Cgg>Tgg									96.0	98.0	98.0					5																	140868991		2203	4300	6503	SO:0001583	missense	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140868991C>T	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.184C>T	5.37:g.140868991C>T	ENSP00000252087:p.Arg62Trp					PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.R62W	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	184	+			62			Cadherin 1.		Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	c.184C>T	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512890	0.27123	.	.	ENSG00000240764	ENST00000252087	T	0.42513	0.97	5.71	4.84	0.62591	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.51477	D	0.000086	T	0.74152	0.3679	H	0.97635	4.045	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.80504	-0.1353	10	0.87932	D	0	.	9.3938	0.38390	0.1427:0.7843:0.0:0.0729	.	62;62	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	W	62	ENSP00000252087:R62W	ENSP00000252087:R62W	R	+	1	2	PCDHGC5	140849175	0.033000	0.19621	0.999000	0.59377	0.003000	0.03518	0.690000	0.25451	1.404000	0.46819	0.655000	0.94253	CGG		0.547	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		5	55	0	0	0	1	0	5	55				
GPX5	2880	broad.mit.edu	37	6	28497332	28497332	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:28497332C>G	ENST00000412168.2	+	2	281	c.192C>G	c.(190-192)atC>atG	p.I64M	GPX5_ENST00000469384.1_Missense_Mutation_p.I64M|GPX6_ENST00000483058.1_5'Flank|GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	64					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	GCAAGCACATCCTCTTCGTCA	0.438																																						ENST00000412168.2																			0				endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(190-192)atC>atG		glutathione peroxidase 5 (epididymal androgen-related protein)	Glutathione(DB00143)						164.0	130.0	141.0					6																	28497332		2203	4300	6503	SO:0001583	missense	2880				lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28497332C>G	AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.192C>G	6.37:g.28497332C>G	ENSP00000392398:p.Ile64Met					GPX5_ENST00000469384.1_Missense_Mutation_p.I64M|GPX5_ENST00000442674.2_3'UTR	p.I64M	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN			2	281	+			64					A1A4Y0	Missense_Mutation	SNP	ENST00000412168.2	37	c.192C>G	CCDS4652.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738587	0.49045	.	.	ENSG00000224586	ENST00000412168;ENST00000469384	T;T	0.09723	2.95;2.95	3.72	2.85	0.33270	Thioredoxin-like fold (2);	0.225570	0.36167	N	0.002752	T	0.08133	0.0203	L	0.45228	1.405	0.25922	N	0.983105	P;B	0.43542	0.81;0.411	P;P	0.53006	0.715;0.593	T	0.05338	-1.0891	10	0.62326	D	0.03	-12.9631	9.6537	0.39912	0.0:0.8935:0.0:0.1065	.	64;64	A1A4Y0;O75715	.;GPX5_HUMAN	M	64	ENSP00000392398:I64M;ENSP00000419935:I64M	ENSP00000392398:I64M	I	+	3	3	GPX5	28605311	1.000000	0.71417	0.980000	0.43619	0.621000	0.37620	0.774000	0.26675	1.110000	0.41699	0.655000	0.94253	ATC		0.438	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043672.2			13	53	0	0	0	1	0	13	53				
TNN	63923	broad.mit.edu	37	1	175046646	175046646	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:175046646C>A	ENST00000239462.4	+	2	205	c.92C>A	c.(91-93)cCc>cAc	p.P31H		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	31					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGGAGCCTCCCGGCTGCAGC	0.597																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(91-93)cCc>cAc		tenascin N							61.0	55.0	57.0					1																	175046646		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175046646C>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.92C>A	1.37:g.175046646C>A	ENSP00000239462:p.Pro31His						p.P31H	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	2	205	+		Breast(1374;0.000962)	31					B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.92C>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	0.957	-0.704474	0.03255	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.24723	1.84	5.51	-8.94	0.00768	.	1.651150	0.03165	N	0.169935	T	0.09642	0.0237	N	0.11560	0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.16188	-1.0411	10	0.18276	T	0.48	.	3.5482	0.07836	0.2174:0.4121:0.0704:0.3001	.	31;31	B3KXB6;Q9UQP3	.;TENN_HUMAN	H	31	ENSP00000239462:P31H	ENSP00000239462:P31H	P	+	2	0	TNN	173313269	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.844000	0.04345	-1.223000	0.02584	-0.793000	0.03317	CCC		0.597	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		17	100	1	0	4.14922e-12	1	6.07349e-12	17	100				
BAI3	577	broad.mit.edu	37	6	69949024	69949024	+	Missense_Mutation	SNP	G	G	C	rs371369769		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:69949024G>C	ENST00000370598.1	+	20	3541	c.2720G>C	c.(2719-2721)cGc>cCc	p.R907P	BAI3_ENST00000238918.8_Missense_Mutation_p.R113P	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	907					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R907P(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGGTACATACGCTCTGAGAGA	0.368																																						ENST00000370598.1																			1	Substitution - Missense(1)	p.R907P(1)	lung(1)	NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(2719-2721)cGc>cCc		brain-specific angiogenesis inhibitor 3							181.0	176.0	177.0					6																	69949024		2203	4298	6501	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69949024G>C	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2720G>C	6.37:g.69949024G>C	ENSP00000359630:p.Arg907Pro					BAI3_ENST00000238918.8_Missense_Mutation_p.R113P	p.R907P	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			20	3541	+		all_lung(197;0.212)	907					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.2720G>C	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075531	0.55646	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.52295	0.67;0.67	5.26	5.26	0.73747	GPCR, family 2-like (1);	0.056171	0.64402	D	0.000002	T	0.65004	0.2650	M	0.89353	3.025	0.80722	D	1	P;D;D	0.64830	0.895;0.966;0.994	P;P;D	0.66351	0.743;0.74;0.943	T	0.72408	-0.4303	10	0.87932	D	0	.	12.2519	0.54603	0.0779:0.0:0.9221:0.0	.	113;907;907	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	P	907;113	ENSP00000359630:R907P;ENSP00000238918:R113P	ENSP00000238918:R113P	R	+	2	0	BAI3	70005745	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	6.872000	0.75536	2.450000	0.82876	0.655000	0.94253	CGC		0.368	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			13	103	0	0	0	1	0	13	103				
TYRP1	7306	broad.mit.edu	37	9	12704637	12704637	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:12704637C>T	ENST00000388918.5	+	6	1322	c.1193C>T	c.(1192-1194)cCt>cTt	p.P398L	RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381137.2_Missense_Mutation_p.P107L|TYRP1_ENST00000381136.2_Missense_Mutation_p.P108L	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	398					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		CCAAATGATCCTATTTTTGTC	0.448									Oculocutaneous Albinism																													ENST00000388918.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22						c.(1192-1194)cCt>cTt		tyrosinase-related protein 1							126.0	109.0	115.0					9																	12704637		2203	4300	6503	SO:0001583	missense	7306	Oculocutaneous Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12704637C>T	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1193C>T	9.37:g.12704637C>T	ENSP00000373570:p.Pro398Leu					TYRP1_ENST00000381137.2_Missense_Mutation_p.P107L|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Missense_Mutation_p.P108L	p.P398L	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	6	1322	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	398					P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	ENST00000388918.5	37	c.1193C>T	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562333	0.86335	.	.	ENSG00000107165	ENST00000381137;ENST00000388918;ENST00000381136	D;D;D	0.99910	-7.88;-7.88;-7.88	5.5	5.5	0.81552	Tyrosinase (3);Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.99915	0.9960	M	0.91818	3.245	0.80722	D	1	P	0.49447	0.924	P	0.59703	0.862	D	0.96007	0.8998	10	0.87932	D	0	-26.9714	19.7537	0.96281	0.0:1.0:0.0:0.0	.	398	P17643	TYRP1_HUMAN	L	107;398;108	ENSP00000370529:P107L;ENSP00000373570:P398L;ENSP00000370528:P108L	ENSP00000370528:P108L	P	+	2	0	TYRP1	12694637	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	7.370000	0.79589	2.736000	0.93811	0.591000	0.81541	CCT		0.448	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		30	82	0	0	0	1	0	30	82				
LPAL2	80350	broad.mit.edu	37	6	160899681	160899681	+	RNA	SNP	C	C	A	rs138758230	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:160899681C>A	ENST00000335388.5	-	0	1203					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		AGGGTTGTTTCCCAGAATCTG	0.483																																						ENST00000335388.5																			0				large_intestine(1)|lung(4)	5																																														80350							g.chr6:160899681C>A	U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160899681C>A								NR_028092.1					OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	0	1203	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)						E1P5B4	RNA	SNP	ENST00000335388.5	37																																																																																						0.483	LPAL2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000042950.1	NM_024492		7	35	1	0	2.7689e-08	1	3.72878e-08	7	35				
TYK2	7297	broad.mit.edu	37	19	10488921	10488921	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:10488921C>A	ENST00000525621.1	-	3	643	c.162G>T	c.(160-162)gaG>gaT	p.E54D	TYK2_ENST00000524462.1_Intron|TYK2_ENST00000529370.1_Missense_Mutation_p.E54D|TYK2_ENST00000264818.6_Missense_Mutation_p.E54D	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	54	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TGCAGACTTCCTCAGCTGTCA	0.617																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(160-162)gaG>gaT		tyrosine kinase 2							88.0	72.0	78.0					19																	10488921		2203	4300	6503	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10488921C>A		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.162G>T	19.37:g.10488921C>A	ENSP00000431885:p.Glu54Asp					TYK2_ENST00000264818.6_Missense_Mutation_p.E54D|TYK2_ENST00000529370.1_Missense_Mutation_p.E54D|TYK2_ENST00000524462.1_Intron	p.E54D	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		3	643	-			54			FERM.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.162G>T	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	c	12.25	1.880797	0.33255	.	.	ENSG00000105397	ENST00000525621;ENST00000264818;ENST00000529370;ENST00000531836;ENST00000530829	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;0.63	4.66	1.33	0.21861	Band 4.1 domain (1);FERM domain (1);	0.000000	0.48767	D	0.000169	D	0.85695	0.5756	M	0.84219	2.685	0.39645	D	0.970375	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	D	0.83988	0.0336	10	0.87932	D	0	-37.7488	7.1488	0.25597	0.0:0.7102:0.0:0.2898	.	54;54	E9PPF2;P29597	.;TYK2_HUMAN	D	54	ENSP00000431885:E54D;ENSP00000264818:E54D;ENSP00000432728:E54D;ENSP00000436175:E54D;ENSP00000436826:E54D	ENSP00000264818:E54D	E	-	3	2	TYK2	10349921	1.000000	0.71417	0.642000	0.29436	0.044000	0.14063	1.409000	0.34680	0.169000	0.19679	-0.428000	0.05917	GAG		0.617	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			10	46	1	0	1.58986e-06	1	1.99164e-06	10	46				
LINC00922	283867	broad.mit.edu	37	16	65397190	65397190	+	lincRNA	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:65397190A>C	ENST00000569736.1	-	0	490				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1				long intergenic non-protein coding RNA 922																		TGGACTCCCAAGGTCCTATAA	0.418																																						ENST00000569736.1																			0																				77.0	64.0	68.0					16																	65397190		692	1591	2283			283867							g.chr16:65397190A>C	BC037902, BC104446		16q21	2013-05-24			ENSG00000261742	ENSG00000261742		"""Long non-coding RNAs"""	27545	non-coding RNA	RNA, long non-coding							Standard	NR_027755		Approved				OTTHUMG00000172812		16.37:g.65397190A>C						RP11-256I9.3_ENST00000562656.1_lincRNA		NR_027755.1						0	490	-									RNA	SNP	ENST00000569736.1	37																																																																																						0.418	LINC00922-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000420601.2	NR_027755		8	28	0	0	0	1	0	8	28				
RYR2	6262	broad.mit.edu	37	1	237777748	237777748	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:237777748G>T	ENST00000366574.2	+	37	5637	c.5320G>T	c.(5320-5322)Gaa>Taa	p.E1774*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.E1758*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.E1772*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1774	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CATTAGTAATGAATGTTACCA	0.498																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(5320-5322)Gaa>Taa		ryanodine receptor 2 (cardiac)							100.0	99.0	100.0					1																	237777748		1965	4145	6110	SO:0001587	stop_gained	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777748G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5320G>T	1.37:g.237777748G>T	ENSP00000355533:p.Glu1774*					RYR2_ENST00000542537.1_Nonsense_Mutation_p.E1758*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.E1772*	p.E1774*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5637	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1774			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	ENST00000366574.2	37	c.5320G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	44	10.953955	0.99494	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.43	5.43	0.79202	.	0.270900	0.28476	N	0.015213	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	19.2592	0.93961	0.0:0.0:1.0:0.0	.	.	.	.	X	1774;1772;1758	.	ENSP00000353174:E1772X	E	+	1	0	RYR2	235844371	1.000000	0.71417	0.065000	0.19835	0.581000	0.36288	9.650000	0.98490	2.563000	0.86464	0.650000	0.86243	GAA		0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		26	104	1	0	1.64293e-13	1	2.46288e-13	26	104				
BHMT2	23743	broad.mit.edu	37	5	78373342	78373342	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:78373342G>T	ENST00000255192.3	+	2	139	c.73G>T	c.(73-75)Gga>Tga	p.G25*	BHMT2_ENST00000521567.1_Nonsense_Mutation_p.G25*|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	25	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				L-methionine salvage (GO:0071267)|S-adenosylmethionine metabolic process (GO:0046500)|S-methylmethionine metabolic process (GO:0033477)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|S-methylmethionine-homocysteine S-methyltransferase activity (GO:0061627)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GGTTGTGATTGGAGATGGCAG	0.488																																						ENST00000255192.3																			0				endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(73-75)Gga>Tga		betaine--homocysteine S-methyltransferase 2	L-Methionine(DB00134)						143.0	145.0	144.0					5																	78373342		2203	4300	6503	SO:0001587	stop_gained	23743				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78373342G>T		CCDS4045.1, CCDS54871.1	5q13	2010-04-28	2010-04-28		ENSG00000132840	ENSG00000132840	2.1.1.5		1048	protein-coding gene	gene with protein product		605932				11087663, 18230605	Standard	NM_017614		Approved		uc003kft.3	Q9H2M3	OTTHUMG00000108158	ENST00000255192.3:c.73G>T	5.37:g.78373342G>T	ENSP00000255192:p.Gly25*					DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Nonsense_Mutation_p.G25*	p.G25*	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	2	139	+		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)	25			Hcy-binding.		B7Z516|Q9NXX7	Nonsense_Mutation	SNP	ENST00000255192.3	37	c.73G>T	CCDS4045.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996832	0.93167	.	.	ENSG00000132840	ENST00000255192;ENST00000521567	.	.	.	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-22.9692	17.9262	0.88983	0.0:0.0:1.0:0.0	.	.	.	.	X	25	.	ENSP00000255192:G25X	G	+	1	0	BHMT2	78409098	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.444000	0.97578	2.226000	0.72624	0.557000	0.71058	GGA		0.488	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226962.2	NM_017614		8	114	1	0	0.00307968	1	0.00332671	8	114				
RTN4RL1	146760	broad.mit.edu	37	17	1840777	1840777	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:1840777C>T	ENST00000331238.6	-	2	818	c.339G>A	c.(337-339)ctG>ctA	p.L113L		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CCAGCGTCCGCAGCTGCCGGT	0.642																																					GBM(68;949 1139 14865 32798 38342)	ENST00000331238.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						c.(337-339)ctG>ctA		reticulon 4 receptor-like 1							50.0	57.0	55.0					17																	1840777		2201	4299	6500	SO:0001819	synonymous_variant	146760				axon regeneration	anchored to plasma membrane	receptor activity	g.chr17:1840777C>T	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.339G>A	17.37:g.1840777C>T							p.L113L	NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN			2	357	-			113						Silent	SNP	ENST00000331238.6	37	c.339G>A	CCDS45569.1																																																																																				0.642	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		10	36	0	0	0	1	0	10	36				
SNHG14	104472715	broad.mit.edu	37	15	25475879	25475879	+	RNA	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:25475879C>A	ENST00000453082.2	+	0	1474				SNORD115-32_ENST00000364079.1_RNA|SNORD115-34_ENST00000362441.1_RNA|SNORD115-33_ENST00000363723.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		GGTGCTCAGCCCCAGTGCACT	0.607																																						ENST00000453082.2																			0																																																			104472715							g.chr15:25475879C>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25475879C>A								NR_003343.1						0	1474	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.607	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			10	57	1	0	2.17888e-05	1	2.58902e-05	10	57				
EPHB1	2047	broad.mit.edu	37	3	134885831	134885831	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:134885831A>G	ENST00000398015.3	+	9	2112	c.1742A>G	c.(1741-1743)cAt>cGt	p.H581R	EPHB1_ENST00000493838.1_Missense_Mutation_p.H142R	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	581					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AAGCTCCAGCATTACAGCACA	0.542																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(1741-1743)cAt>cGt		EPH receptor B1							156.0	162.0	160.0					3																	134885831		1913	4136	6049	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134885831A>G	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1742A>G	3.37:g.134885831A>G	ENSP00000381097:p.His581Arg					EPHB1_ENST00000493838.1_Missense_Mutation_p.H142R	p.H581R	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			9	2112	+			581					A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.1742A>G	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	A	18.36	3.605986	0.66445	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.10477	2.87;2.87	6.08	6.08	0.98989	.	0.053195	0.85682	D	0.000000	T	0.15046	0.0363	M	0.63428	1.95	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03335	-1.1047	10	0.26408	T	0.33	.	16.6438	0.85155	1.0:0.0:0.0:0.0	.	581	P54762	EPHB1_HUMAN	R	581;142	ENSP00000381097:H581R;ENSP00000419574:H142R	ENSP00000381097:H581R	H	+	2	0	EPHB1	136368521	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.701000	0.91331	2.333000	0.79357	0.533000	0.62120	CAT		0.542	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		12	219	0	0	0	1	0	12	219				
CSMD2	114784	broad.mit.edu	37	1	34180272	34180272	+	Silent	SNP	G	G	C	rs145807635		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:34180272G>C	ENST00000373381.4	-	21	3497	c.3321C>G	c.(3319-3321)ccC>ccG	p.P1107P		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1067	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GACGGTACCCGGGGAAGCAGG	0.662																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(3319-3321)ccC>ccG		CUB and Sushi multiple domains 2							86.0	95.0	92.0					1																	34180272		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34180272G>C	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.3321C>G	1.37:g.34180272G>C							p.P1107P	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			21	3497	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1067			CUB 7.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.3321C>G																																																																																					0.662	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		75	175	0	0	0	1	0	75	175				
UBQLNL	143630	broad.mit.edu	37	11	5537461	5537461	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:5537461C>A	ENST00000380184.1	-	1	474	c.211G>T	c.(211-213)Gtg>Ttg	p.V71L	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	71	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.							p.V71L(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AAGACCAGCACTAGTTGGTCC	0.498																																						ENST00000380184.1																			1	Substitution - Missense(1)	p.V71L(1)	lung(1)	endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(211-213)Gtg>Ttg		ubiquilin-like							201.0	157.0	172.0					11																	5537461		2201	4297	6498	SO:0001583	missense	143630							g.chr11:5537461C>A	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.211G>T	11.37:g.5537461C>A	ENSP00000369531:p.Val71Leu					HBG2_ENST00000380259.2_Intron	p.V71L	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	474	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	71			Ubiquitin-like.		Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	37	c.211G>T	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308739	0.81247	.	.	ENSG00000175518	ENST00000380184;ENST00000538889	T	0.73469	-0.75	5.53	5.53	0.82687	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.41500	D	0.000864	D	0.86112	0.5855	M	0.75777	2.31	0.39410	D	0.966746	D	0.76494	0.999	D	0.85130	0.997	D	0.88077	0.2804	10	0.87932	D	0	.	16.9541	0.86253	0.0:1.0:0.0:0.0	.	71	Q8IYU4	UBQLN_HUMAN	L	71	ENSP00000369531:V71L	ENSP00000369531:V71L	V	-	1	0	UBQLNL	5494037	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	5.033000	0.64146	2.577000	0.86979	0.655000	0.94253	GTG		0.498	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		5	69	1	0	0.000602214	1	0.000673014	5	69				
MTHFD1	4522	broad.mit.edu	37	14	64894130	64894130	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:64894130C>T	ENST00000545908.1	+	12	1600	c.1371C>T	c.(1369-1371)ctC>ctT	p.L457L	CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.8_Silent_p.L401L			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	401	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	GTGCCCATCTCTACCAGAATG	0.512																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	ENST00000555709.1																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30						c.(1201-1203)ctC>ctT		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						148.0	128.0	135.0					14																	64894130		2203	4300	6503	SO:0001819	synonymous_variant	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	g.chr14:64894130C>T	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.1371C>T	14.37:g.64894130C>T						MTHFD1_ENST00000545908.1_Silent_p.L457L|MTHFD1_ENST00000216605.7_Silent_p.L457L|CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000555252.1_Silent_p.L381L	p.L401L	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	12	1590	+			401			Formyltetrahydrofolate synthetase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Silent	SNP	ENST00000545908.1	37	c.1203C>T																																																																																					0.512	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			6	107	0	0	0	1	0	6	107				
POLQ	10721	broad.mit.edu	37	3	121209254	121209254	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:121209254C>A	ENST00000264233.5	-	16	2652	c.2524G>T	c.(2524-2526)Gcc>Tcc	p.A842S		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	842					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GCCTTCCGGGCACTACACAAG	0.428								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.e16-1	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							91.0	85.0	87.0					3																	121209254		2203	4299	6502	SO:0001630	splice_region_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121209254C>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.2523-1G>T	3.37:g.121209254C>A							p.A842_splice	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	2652	-			842					O95160|Q6VMB5	Splice_Site	SNP	ENST00000264233.5	37	c.2522_splice	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800852	0.31869	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.50001	0.76	5.47	0.406	0.16366	.	0.529435	0.21259	N	0.077503	T	0.23410	0.0566	N	0.11427	0.14	0.31693	N	0.641632	B;B	0.18610	0.011;0.029	B;B	0.23150	0.018;0.044	T	0.09122	-1.0689	10	0.38643	T	0.18	.	5.0546	0.14525	0.1388:0.4851:0.0:0.3761	.	842;14	O75417;O75417-2	DPOLQ_HUMAN;.	S	465;842;978	ENSP00000264233:A842S	ENSP00000264233:A842S	A	-	1	0	POLQ	122691944	0.946000	0.32159	0.968000	0.41197	0.748000	0.42578	0.259000	0.18405	-0.004000	0.14419	0.557000	0.71058	GCC		0.428	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420	Missense_Mutation	7	117	1	0	0.00307968	1	0.00332671	7	117				
SPHKAP	80309	broad.mit.edu	37	2	228884717	228884717	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:228884717G>A	ENST00000392056.3	-	7	899	c.853C>T	c.(853-855)Cga>Tga	p.R285*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.R285*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	285						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTGGAGATCGTTCTGTTTTA	0.443																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(853-855)Cga>Tga		SPHK1 interactor, AKAP domain containing							243.0	256.0	252.0					2																	228884717		2203	4300	6503	SO:0001587	stop_gained	80309					cytoplasm	protein binding	g.chr2:228884717G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.853C>T	2.37:g.228884717G>A	ENSP00000375909:p.Arg285*					SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.R285*	p.R285*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	899	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	285					Q68DA3|Q68DR8|Q9C0I5	Nonsense_Mutation	SNP	ENST00000392056.3	37	c.853C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460559	0.26248	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	.	.	.	5.6	-3.23	0.05109	.	1.853230	0.02265	N	0.067918	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	7.1623	0.25671	0.0:0.395:0.2321:0.3729	.	.	.	.	X	285	.	ENSP00000339886:R285X	R	-	1	2	SPHKAP	228592961	0.000000	0.05858	0.005000	0.12908	0.004000	0.04260	-0.587000	0.05780	-0.528000	0.06366	-0.188000	0.12872	CGA		0.443	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		17	215	0	0	0	1	0	17	215				
PPFIA2	8499	broad.mit.edu	37	12	81657168	81657168	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:81657168C>A	ENST00000549396.1	-	31	3717	c.3557G>T	c.(3556-3558)aGt>aTt	p.S1186I	PPFIA2_ENST00000541017.1_Splice_Site_p.S372I|PPFIA2_ENST00000541570.2_Splice_Site_p.S722I|PPFIA2_ENST00000548586.1_Splice_Site_p.S1180I|PPFIA2_ENST00000333447.7_Splice_Site_p.S1174I|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Splice_Site_p.S1171I|PPFIA2_ENST00000443686.3_Splice_Site_p.S1081I|PPFIA2_ENST00000550584.2_Splice_Site_p.S1186I|PPFIA2_ENST00000552948.1_Splice_Site_p.S1165I|PPFIA2_ENST00000550359.2_Splice_Site_p.S1033I|PPFIA2_ENST00000407050.4_Splice_Site_p.S1085I	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1186					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTTGTCATCACTCTGCCAGTA	0.403																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.e30-1		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							85.0	81.0	82.0					12																	81657168		1944	4148	6092	SO:0001630	splice_region_variant	8499							g.chr12:81657168C>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3556-1G>T	12.37:g.81657168C>A						PPFIA2_ENST00000541570.2_Splice_Site_p.S722_splice|PPFIA2_ENST00000552948.1_Splice_Site_p.S1165_splice|PPFIA2_ENST00000443686.3_Splice_Site_p.S1081_splice|PPFIA2_ENST00000548586.1_Splice_Site_p.S1180_splice|PPFIA2_ENST00000549325.1_Splice_Site_p.S1171_splice|PPFIA2_ENST00000407050.4_Splice_Site_p.S1085_splice|PPFIA2_ENST00000549396.1_Splice_Site_p.S1186_splice|PPFIA2_ENST00000541017.1_Splice_Site_p.S372_splice|PPFIA2_ENST00000550359.2_Splice_Site_p.S1033_splice|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Splice_Site_p.S1174_splice	p.S1186_splice	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			30	3852	-			1085					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Splice_Site	SNP	ENST00000549396.1	37	c.3555_splice	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.259409	0.59321	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T;T	0.32515	2.21;2.21;1.87;1.45;1.87;2.21;2.21;1.88;2.19	5.49	5.49	0.81192	.	0.100926	0.64402	D	0.000002	T	0.19685	0.0473	N	0.08118	0	0.43522	D	0.995796	B	0.28128	0.201	B	0.24701	0.055	T	0.06092	-1.0846	10	0.33141	T	0.24	-15.1568	19.349	0.94376	0.0:1.0:0.0:0.0	.	1186	O75334	LIPA2_HUMAN	I	1186;1171;722;372;1085;1199;1174;1180;1081;1165	ENSP00000450337:S1186I;ENSP00000450298:S1171I;ENSP00000438337:S722I;ENSP00000445532:S372I;ENSP00000385093:S1085I;ENSP00000327416:S1174I;ENSP00000449338:S1180I;ENSP00000388373:S1081I;ENSP00000447868:S1165I	ENSP00000327416:S1174I	S	-	2	0	PPFIA2	80181299	0.866000	0.29940	1.000000	0.80357	0.995000	0.86356	0.644000	0.24766	2.571000	0.86741	0.585000	0.79938	AGT		0.403	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		Missense_Mutation	6	41	1	0	0.0215528	1	0.0223551	6	41				
RYR2	6262	broad.mit.edu	37	1	237754126	237754126	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:237754126A>C	ENST00000366574.2	+	31	4311	c.3994A>C	c.(3994-3996)Aat>Cat	p.N1332H	RYR2_ENST00000542537.1_Missense_Mutation_p.N1316H|RYR2_ENST00000360064.6_Missense_Mutation_p.N1330H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1332	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGGCCCAAGAATGACTTGGA	0.517																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3994-3996)Aat>Cat		ryanodine receptor 2 (cardiac)							91.0	89.0	90.0					1																	237754126		1930	4137	6067	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237754126A>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3994A>C	1.37:g.237754126A>C	ENSP00000355533:p.Asn1332His					RYR2_ENST00000542537.1_Missense_Mutation_p.N1316H|RYR2_ENST00000360064.6_Missense_Mutation_p.N1330H	p.N1332H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		31	4311	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1332			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3994A>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	a	12.78	2.039162	0.35989	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96619	-4.07;-4.03;-4.06	5.23	5.23	0.72850	.	0.167697	0.38548	N	0.001654	D	0.89832	0.6829	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	D	0.85969	0.1475	10	0.56958	D	0.05	.	9.9892	0.41860	0.9247:0.0:0.0753:0.0	.	1332	Q92736	RYR2_HUMAN	H	1332;1330;1316	ENSP00000355533:N1332H;ENSP00000353174:N1330H;ENSP00000443798:N1316H	ENSP00000353174:N1330H	N	+	1	0	RYR2	235820749	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.506000	0.53364	2.324000	0.78689	0.533000	0.62120	AAT		0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	95	0	0	0	1	0	6	95				
SLITRK5	26050	broad.mit.edu	37	13	88328918	88328918	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:88328918C>T	ENST00000325089.6	+	2	1494	c.1275C>T	c.(1273-1275)cgC>cgT	p.R425R	SLITRK5_ENST00000400028.3_Silent_p.R184R	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	425					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTGTCGTGCGCAGGACAGACT	0.572																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1273-1275)cgC>cgT		SLIT and NTRK-like family, member 5							83.0	73.0	77.0					13																	88328918		2203	4300	6503	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88328918C>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1275C>T	13.37:g.88328918C>T						SLITRK5_ENST00000400028.3_Silent_p.R184R	p.R425R	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	1494	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		425					B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.1275C>T	CCDS9465.1																																																																																				0.572	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			5	38	0	0	0	1	0	5	38				
BRPF3	27154	broad.mit.edu	37	6	36168208	36168208	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:36168208G>A	ENST00000357641.6	+	2	362	c.109G>A	c.(109-111)Gcc>Acc	p.A37T	BRPF3_ENST00000534694.1_Missense_Mutation_p.A37T|BRPF3_ENST00000443324.2_Missense_Mutation_p.A37T|BRPF3_ENST00000543502.1_Missense_Mutation_p.A37T|BRPF3_ENST00000339717.7_Missense_Mutation_p.A37T|BRPF3_ENST00000534400.1_Missense_Mutation_p.A37T	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	37					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						ATATGCCCAGGCCCAGCGGAT	0.582																																						ENST00000357641.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(109-111)Gcc>Acc		bromodomain and PHD finger containing, 3							78.0	76.0	77.0					6																	36168208		2203	4300	6503	SO:0001583	missense	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36168208G>A	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.109G>A	6.37:g.36168208G>A	ENSP00000350267:p.Ala37Thr					BRPF3_ENST00000534400.1_Missense_Mutation_p.A37T|BRPF3_ENST00000534694.1_Missense_Mutation_p.A37T|BRPF3_ENST00000543502.1_Missense_Mutation_p.A37T|BRPF3_ENST00000443324.2_Missense_Mutation_p.A37T|BRPF3_ENST00000339717.7_Missense_Mutation_p.A37T	p.A37T	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN			2	362	+			37					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.109G>A	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611328	0.66558	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000446974;ENST00000454960;ENST00000543502;ENST00000443324;ENST00000534400	T;T;T;T;T;T;T;T	0.70986	1.85;1.99;1.97;-0.45;-0.53;1.99;1.97;1.54	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.82962	0.5151	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.994;0.994;0.996	D	0.84833	0.0803	10	0.87932	D	0	.	19.1826	0.93629	0.0:0.0:1.0:0.0	.	37;37;37	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	T	37	ENSP00000350267:A37T;ENSP00000345419:A37T;ENSP00000434501:A37T;ENSP00000410669:A37T;ENSP00000413655:A37T;ENSP00000445352:A37T;ENSP00000387368:A37T;ENSP00000436504:A37T	ENSP00000345419:A37T	A	+	1	0	BRPF3	36276186	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.502000	0.81614	2.550000	0.86006	0.551000	0.68910	GCC		0.582	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		5	70	0	0	0	1	0	5	70				
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473175	22473175	+	RNA	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:22473175C>T	ENST00000557788.2	-	0	95							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											TCTCCGAAGGCTTCACCAGTC	0.652																																						ENST00000557788.2																			0																																																			28317							g.chr15:22473175C>T	Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22473175C>T														0	95	-									RNA	SNP	ENST00000557788.2	37																																																																																						0.652	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415968.2			9	96	0	0	0	1	0	9	96				
FGA	2243	broad.mit.edu	37	4	155506784	155506784	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:155506784C>T	ENST00000302053.3	-	5	1875	c.1797G>A	c.(1795-1797)aaG>aaA	p.K599K	FGA_ENST00000403106.3_Silent_p.K599K	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	599					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTTTATAGCTCTTGCTTTCAA	0.458																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1795-1797)aaG>aaA		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						140.0	133.0	135.0					4																	155506784		2203	4300	6503	SO:0001819	synonymous_variant	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155506784C>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1797G>A	4.37:g.155506784C>T						FGA_ENST00000403106.3_Silent_p.K599K	p.K599K	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	1875	-	all_hematologic(180;0.215)	Renal(120;0.0458)	599					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Silent	SNP	ENST00000302053.3	37	c.1797G>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	0.418	-0.910019	0.02434	.	.	ENSG00000171560	ENST00000457487	.	.	.	5.81	3.84	0.44239	.	.	.	.	.	T	0.59004	0.2162	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53528	-0.8426	4	.	.	.	.	9.1678	0.37063	0.0:0.7395:0.0:0.2605	.	.	.	.	K	241	.	.	R	-	2	0	FGA	155726234	0.155000	0.22806	0.195000	0.23364	0.080000	0.17528	0.271000	0.18626	0.607000	0.29982	0.655000	0.94253	AGA		0.458	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		12	65	0	0	0	1	0	12	65				
DCHS1	8642	broad.mit.edu	37	11	6661321	6661321	+	Silent	SNP	G	G	A	rs140183045	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:6661321G>A	ENST00000299441.3	-	2	1935	c.1524C>T	c.(1522-1524)gtC>gtT	p.V508V		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	508	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTATAAGTGACCTGACCAT	0.592													G|||	6	0.00119808	0.0	0.0	5008	,	,		21299	0.006		0.0	False		,,,				2504	0.0					ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(1522-1524)gtC>gtT		dachsous cadherin-related 1		G		0,4402		0,0,2201	55.0	50.0	52.0		1524	2.2	1.0	11	dbSNP_134	52	5,8587	4.3+/-15.6	0,5,4291	no	coding-synonymous	DCHS1	NM_003737.2		0,5,6492	AA,AG,GG		0.0582,0.0,0.0385		508/3299	6661321	5,12989	2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6661321G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1524C>T	11.37:g.6661321G>A							p.V508V	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1935	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	508			Cadherin 5.		O15098	Silent	SNP	ENST00000299441.3	37	c.1524C>T	CCDS7771.1																																																																																				0.592	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		6	25	0	0	0	1	0	6	25				
RPLP0P6	220717	broad.mit.edu	37	2	38708932	38708932	+	lincRNA	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:38708932A>G	ENST00000417039.1	-	0	696																											CTCGCCAGGCATCCTCGTGGA	0.577																																						ENST00000417039.1																			0																																																			220717							g.chr2:38708932A>G																													2.37:g.38708932A>G														0	696	-									RNA	SNP	ENST00000417039.1	37																																																																																						0.577	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			7	13	0	0	0	1	0	7	13				
PTPN5	84867	broad.mit.edu	37	11	18765618	18765618	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:18765618C>A	ENST00000358540.2	-	4	656	c.226G>T	c.(226-228)Ggc>Tgc	p.G76C	PTPN5_ENST00000396168.1_Missense_Mutation_p.G52C|PTPN5_ENST00000396167.2_Missense_Mutation_p.G76C|PTPN5_ENST00000396170.1_Missense_Mutation_p.G76C|PTPN5_ENST00000477854.1_5'Flank|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396171.4_Missense_Mutation_p.G76C	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	76					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CTCCCAGCGCCTCGAGGTGGT	0.637																																						ENST00000396170.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						c.(226-228)Ggc>Tgc		protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)							80.0	86.0	84.0					11																	18765618		2199	4293	6492	SO:0001583	missense	84867					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr11:18765618C>A	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.226G>T	11.37:g.18765618C>A	ENSP00000351342:p.Gly76Cys					PTPN5_ENST00000396167.2_Missense_Mutation_p.G76C|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396168.1_Missense_Mutation_p.G52C|PTPN5_ENST00000358540.2_Missense_Mutation_p.G76C|PTPN5_ENST00000396171.4_Missense_Mutation_p.G76C	p.G76C	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN			4	1490	-			76					B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP	ENST00000358540.2	37	c.226G>T	CCDS7845.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556622	0.27827	.	.	ENSG00000110786	ENST00000358540;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	T;T;T;T;T	0.06068	3.56;3.35;3.56;3.35;3.6	4.76	2.75	0.32379	.	0.377783	0.22706	N	0.056631	T	0.03520	0.0101	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.37033	-0.9723	10	0.87932	D	0	.	9.1218	0.36791	0.1415:0.6216:0.2369:0.0	.	76;76	P54829;B3KXG7	PTN5_HUMAN;.	C	76;76;76;76;52	ENSP00000351342:G76C;ENSP00000379473:G76C;ENSP00000379474:G76C;ENSP00000379470:G76C;ENSP00000379471:G52C	ENSP00000351342:G76C	G	-	1	0	PTPN5	18722194	0.007000	0.16637	0.129000	0.21949	0.079000	0.17450	1.065000	0.30592	2.361000	0.80049	0.491000	0.48974	GGC		0.637	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		18	152	1	0	3.32936e-07	1	4.28363e-07	18	152				
GC	2638	broad.mit.edu	37	4	72631247	72631247	+	Silent	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:72631247A>T	ENST00000273951.8	-	4	718	c.375T>A	c.(373-375)gcT>gcA	p.A125A	GC_ENST00000513476.1_Silent_p.A125A|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Silent_p.A144A	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	125	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	GGTGTTTCAGAGCAGCCATGC	0.502																																						ENST00000273951.8																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45						c.(373-375)gcT>gcA		group-specific component (vitamin D binding protein)	Cholecalciferol(DB00169)						153.0	141.0	145.0					4																	72631247		2203	4300	6503	SO:0001819	synonymous_variant	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72631247A>T	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.375T>A	4.37:g.72631247A>T						GC_ENST00000513476.1_Silent_p.A125A|GC_ENST00000504199.1_Silent_p.A144A|GC_ENST00000503472.1_5'UTR	p.A125A	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	Lung(101;0.148)		4	718	-		all_hematologic(202;0.107)	125			Albumin 1.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Silent	SNP	ENST00000273951.8	37	c.375T>A	CCDS3550.1																																																																																				0.502	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			18	128	0	0	0	1	0	18	128				
CRHBP	1393	broad.mit.edu	37	5	76264621	76264621	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:76264621G>A	ENST00000274368.4	+	7	1302	c.880G>A	c.(880-882)Gtg>Atg	p.V294M	CRHBP_ENST00000514258.1_Intron	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	294					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)			kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		CGTAAATCGTGTGACTTTTGA	0.453																																						ENST00000274368.4																			0				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16						c.(880-882)Gtg>Atg		corticotropin releasing hormone binding protein							149.0	134.0	139.0					5																	76264621		2203	4300	6503	SO:0001583	missense	1393				female pregnancy|learning or memory|signal transduction	soluble fraction		g.chr5:76264621G>A	X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"""corticotropin releasing hormone-binding protein"""			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.880G>A	5.37:g.76264621G>A	ENSP00000274368:p.Val294Met					CRHBP_ENST00000514258.1_Intron	p.V294M	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)	7	1302	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	294					Q53F32|Q6FHT5	Missense_Mutation	SNP	ENST00000274368.4	37	c.880G>A	CCDS4034.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297115	0.81025	.	.	ENSG00000145708	ENST00000274368	.	.	.	5.37	3.6	0.41247	.	0.062472	0.64402	N	0.000005	T	0.64627	0.2615	M	0.77103	2.36	0.80722	D	1	B	0.29955	0.263	B	0.34346	0.18	T	0.66101	-0.6007	9	0.87932	D	0	-13.3574	11.6565	0.51322	0.1433:0.0:0.8567:0.0	.	294	P24387	CRHBP_HUMAN	M	294	.	ENSP00000274368:V294M	V	+	1	0	CRHBP	76300377	1.000000	0.71417	0.992000	0.48379	0.972000	0.66771	5.238000	0.65366	0.759000	0.33084	0.655000	0.94253	GTG		0.453	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882		5	64	0	0	0	1	0	5	64				
ECT2L	345930	broad.mit.edu	37	6	139164331	139164331	+	Silent	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:139164331G>C	ENST00000423192.1	+	5	719	c.558G>C	c.(556-558)ctG>ctC	p.L186L	ECT2L_ENST00000541398.1_Silent_p.L117L|ECT2L_ENST00000367682.2_Silent_p.L186L			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	186							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						AAAAGTGCCTGAGGAAAAGAA	0.398			"""N, Splice, Mis"""		ETP ALL																																	ENST00000423192.1				Rec	yes		6	6q24.1	345930	"""N, Splice, Mis"""	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(556-558)ctG>ctC		epithelial cell transforming sequence 2 oncogene-like							114.0	114.0	114.0					6																	139164331		1855	4090	5945	SO:0001819	synonymous_variant	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139164331G>C		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.558G>C	6.37:g.139164331G>C						ECT2L_ENST00000367682.2_Silent_p.L186L|ECT2L_ENST00000541398.1_Silent_p.L117L	p.L186L			Q008S8	ECT2L_HUMAN			5	719	+			186					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Silent	SNP	ENST00000423192.1	37	c.558G>C	CCDS43508.1																																																																																				0.398	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		11	75	0	0	0	1	0	11	75				
IFNA8	3445	broad.mit.edu	37	9	21409540	21409540	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:21409540G>C	ENST00000380205.1	+	1	395	c.365G>C	c.(364-366)tGt>tCt	p.C122S		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	122				SCVM -> VLCD (in Ref. 3; CAA23806 and 4; CAA23811). {ECO:0000305}.	adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		CTGGAGTCCTGTGTGATGCAG	0.478																																						ENST00000380205.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9						c.(364-366)tGt>tCt		interferon, alpha 8							122.0	120.0	121.0					9																	21409540		2203	4300	6503	SO:0001583	missense	3445				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21409540G>C		CCDS6507.1	9p22	2010-08-24			ENSG00000120242	ENSG00000120242		"""Interferons"""	5429	protein-coding gene	gene with protein product	"""interferon alpha-B''"", ""interferon alpha type 201"""	147568				1385305	Standard	NM_002170		Approved	IFN-alphaB	uc003zpc.1	P32881	OTTHUMG00000019677	ENST00000380205.1:c.365G>C	9.37:g.21409540G>C	ENSP00000369553:p.Cys122Ser						p.C122S	NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)	1	395	+			122	SCVM -> VLCD (in Ref. 3; CAA23806 and 4; CAA23811).				P01565|P09236|Q5VWV7|Q5VYQ3	Missense_Mutation	SNP	ENST00000380205.1	37	c.365G>C	CCDS6507.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.695014	0.48202	.	.	ENSG00000120242	ENST00000380205	T	0.08807	3.05	3.48	3.48	0.39840	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.130766	0.56097	D	0.000025	T	0.33323	0.0859	M	0.90252	3.1	0.21105	N	0.999787	D	0.89917	1.0	D	0.97110	1.0	T	0.13098	-1.0522	10	0.87932	D	0	.	12.3381	0.55079	0.0:0.0:1.0:0.0	.	122	P32881	IFNA8_HUMAN	S	122	ENSP00000369553:C122S	ENSP00000369553:C122S	C	+	2	0	IFNA8	21399540	0.992000	0.36948	0.068000	0.19968	0.034000	0.12701	5.222000	0.65277	1.955000	0.56771	0.491000	0.48974	TGT		0.478	IFNA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051906.1	NM_002170		12	155	0	0	0	1	0	12	155				
PCSK5	5125	broad.mit.edu	37	9	78943013	78943013	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:78943013C>A	ENST00000545128.1	+	32	4885	c.4347C>A	c.(4345-4347)tgC>tgA	p.C1449*		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1449	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GTGGGAGCTGCATGGCCAACG	0.602																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(4345-4347)tgC>tgA		proprotein convertase subtilisin/kexin type 5							381.0	329.0	345.0					9																	78943013		876	1991	2867	SO:0001587	stop_gained	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78943013C>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.4347C>A	9.37:g.78943013C>A	ENSP00000446280:p.Cys1449*						p.C1449*	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			32	4885	+			674					F5H2G7|Q13527|Q96EP4	Nonsense_Mutation	SNP	ENST00000545128.1	37	c.4347C>A	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	C	36	5.788860	0.96945	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	.	.	.	5.61	-11.2	0.00127	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.4527	22.1699	0.99967	0.0:0.7121:0.0:0.2879	.	.	.	.	X	1449;1179;1149	.	ENSP00000365945:C1179X	C	+	3	2	PCSK5	78132833	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.625000	0.02036	-2.722000	0.00388	-0.794000	0.03295	TGC		0.602	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				14	193	1	0	0.0242445	1	0.0251148	14	193				
PEAK1	79834	broad.mit.edu	37	15	77407610	77407610	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:77407610C>A	ENST00000560626.2	-	7	4604	c.4129G>T	c.(4129-4131)Gtc>Ttc	p.V1377F	PEAK1_ENST00000312493.4_Missense_Mutation_p.V1377F			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1377	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			LAVR -> SQEF (in Ref. 2; BAC87076). {ECO:0000305}.	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)										CTCTGCCGGACAGCCAAGCTG	0.438																																						ENST00000560626.2																			0											c.(4129-4131)Gtc>Ttc		pseudopodium-enriched atypical kinase 1							74.0	67.0	70.0					15																	77407610		1934	4137	6071	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.chr15:77407610C>A		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.4129G>T	15.37:g.77407610C>A	ENSP00000452796:p.Val1377Phe					PEAK1_ENST00000312493.4_Missense_Mutation_p.V1377F	p.V1377F			Q9H792	PEAK1_HUMAN			7	4604	-			1377	LAVR -> SQEF (in Ref. 2; BAC87076).		Protein kinase.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.4129G>T	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897052	0.52121	.	.	ENSG00000173517	ENST00000312493	T	0.74842	-0.88	5.35	3.48	0.39840	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.615508	0.14287	N	0.329157	T	0.70150	0.3191	L	0.59436	1.845	0.50313	D	0.999861	P	0.41366	0.747	B	0.40782	0.34	T	0.67845	-0.5565	10	0.66056	D	0.02	-6.6618	8.4264	0.32731	0.0:0.7019:0.0:0.2981	.	1377	Q9H792	PEAK1_HUMAN	F	1377	ENSP00000309230:V1377F	ENSP00000309230:V1377F	V	-	1	0	AC087465.1	75194665	0.988000	0.35896	1.000000	0.80357	0.975000	0.68041	2.691000	0.47010	0.663000	0.31027	0.561000	0.74099	GTC		0.438	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			5	60	1	0	0.0215528	1	0.0223551	5	60				
CDH20	28316	broad.mit.edu	37	18	59195439	59195439	+	Silent	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:59195439C>G	ENST00000262717.4	+	7	1655	c.1257C>G	c.(1255-1257)acC>acG	p.T419T	CDH20_ENST00000538374.1_Silent_p.T419T|CDH20_ENST00000536675.2_Silent_p.T419T			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	419	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CAGATGTGACCAACAACTCAA	0.433																																						ENST00000262717.4																			0				breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61						c.(1255-1257)acC>acG		cadherin 20, type 2							224.0	216.0	219.0					18																	59195439		2203	4300	6503	SO:0001819	synonymous_variant	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59195439C>G	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1257C>G	18.37:g.59195439C>G						CDH20_ENST00000536675.2_Silent_p.T419T|CDH20_ENST00000538374.1_Silent_p.T419T	p.T419T			Q9HBT6	CAD20_HUMAN			7	1655	+		Colorectal(73;0.186)	419			Cadherin 4.		Q495S3	Silent	SNP	ENST00000262717.4	37	c.1257C>G	CCDS11977.1																																																																																				0.433	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		33	176	0	0	0	1	0	33	176				
CWC27	10283	broad.mit.edu	37	5	64079699	64079699	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:64079699G>T	ENST00000381070.3	+	4	506	c.289G>T	c.(289-291)Gga>Tga	p.G97*	CWC27_ENST00000508024.1_Nonsense_Mutation_p.G97*	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	97	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						TAATCGGAGAGGACTGGTTGC	0.393																																						ENST00000508024.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						c.(289-291)Gga>Tga		CWC27 spliceosome-associated protein homolog (S. cerevisiae)							216.0	206.0	210.0					5																	64079699		2203	4300	6503	SO:0001587	stop_gained	10283				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64079699G>T	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.289G>T	5.37:g.64079699G>T	ENSP00000370460:p.Gly97*					CWC27_ENST00000381070.3_Nonsense_Mutation_p.G97*	p.G97*			Q6UX04	CWC27_HUMAN			4	490	+			97			PPIase cyclophilin-type.		O60529|O60530|Q96EM3	Nonsense_Mutation	SNP	ENST00000381070.3	37	c.289G>T	CCDS3982.2	.	.	.	.	.	.	.	.	.	.	G	39	7.409567	0.98265	.	.	ENSG00000153015	ENST00000381070;ENST00000508024;ENST00000538793	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4672	0.94948	0.0:0.0:1.0:0.0	.	.	.	.	X	97	.	ENSP00000370460:G97X	G	+	1	0	CWC27	64115455	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.195000	0.94971	2.833000	0.97629	0.585000	0.79938	GGA		0.393	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869		9	152	1	0	5.4927e-09	1	7.57356e-09	9	152				
AMT	275	broad.mit.edu	37	3	49455133	49455133	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:49455133C>A	ENST00000273588.3	-	9	1354	c.1052G>T	c.(1051-1053)tGc>tTc	p.C351F	AMT_ENST00000458307.2_Missense_Mutation_p.C307F|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000538581.1_Missense_Mutation_p.C295F|AMT_ENST00000546031.1_Missense_Mutation_p.C254F|AMT_ENST00000395338.2_Missense_Mutation_p.C351F	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	351					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|transaminase activity (GO:0008483)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Tetrahydrofolic acid(DB00116)	GGGGGAGGGGCAGCCACTAGT	0.597																																						ENST00000273588.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6						c.(1051-1053)tGc>tTc		aminomethyltransferase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						76.0	78.0	77.0					3																	49455133		2203	4300	6503	SO:0001583	missense	275				glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity	g.chr3:49455133C>A	D13811	CCDS2797.1, CCDS54583.1, CCDS54584.1, CCDS54585.1	3p21.2-p21.1	2014-09-17	2006-05-22		ENSG00000145020	ENSG00000145020	2.1.2.10		473	protein-coding gene	gene with protein product	"""glycine cleavage system protein T"""	238310	"""aminomethyltransferase (glycine cleavage system protein T)"""			1993704, 8188235	Standard	NM_000481		Approved	GCST, NKH	uc003cww.3	P48728	OTTHUMG00000156847	ENST00000273588.3:c.1052G>T	3.37:g.49455133C>A	ENSP00000273588:p.Cys351Phe					AMT_ENST00000476226.1_5'UTR|AMT_ENST00000546031.1_Missense_Mutation_p.C254F|AMT_ENST00000538581.1_Missense_Mutation_p.C295F|AMT_ENST00000458307.2_Missense_Mutation_p.C307F|AMT_ENST00000395338.2_Missense_Mutation_p.C351F	p.C351F	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1354	-			351					A8K3I5|B4DE61|B4DJQ0|E9PBG1|Q96IG6	Missense_Mutation	SNP	ENST00000273588.3	37	c.1052G>T	CCDS2797.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072397	0.36566	.	.	ENSG00000145020	ENST00000395338;ENST00000458307;ENST00000273588;ENST00000538581;ENST00000546031	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	4.75	3.87	0.44632	Glycine cleavage T-protein, C-terminal barrel (1);	0.000000	0.85682	D	0.000000	D	0.89301	0.6676	M	0.91818	3.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.994;0.998;0.998	D	0.90008	0.4119	10	0.54805	T	0.06	-14.326	12.0036	0.53246	0.1745:0.8255:0.0:0.0	.	295;307;351;351	B4DE61;B4DJQ0;E9PBG1;P48728	.;.;.;GCST_HUMAN	F	351;307;351;295;254	ENSP00000378747:C351F;ENSP00000415619:C307F;ENSP00000273588:C351F;ENSP00000443200:C295F;ENSP00000440672:C254F	ENSP00000273588:C351F	C	-	2	0	AMT	49430137	1.000000	0.71417	0.999000	0.59377	0.018000	0.09664	7.653000	0.83643	0.987000	0.38709	-0.311000	0.09066	TGC		0.597	AMT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346216.2	NM_000481		29	79	1	0	7.26314e-15	1	1.1052e-14	29	79				
MARCH1	55016	broad.mit.edu	37	4	164506925	164506925	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:164506925C>T	ENST00000503008.1	-	6	1375	c.399G>A	c.(397-399)gaG>gaA	p.E133E	MARCH1_ENST00000339875.5_Silent_p.E116E|MARCH1_ENST00000274056.7_Silent_p.E133E|MARCH1_ENST00000514618.1_Silent_p.E389E	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	133					antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGAGCTTGGTCTCCATTATGA	0.483																																						ENST00000503008.1																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(397-399)gaG>gaA		membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase							134.0	121.0	125.0					4																	164506925		2203	4300	6503	SO:0001819	synonymous_variant	55016				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:164506925C>T	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.399G>A	4.37:g.164506925C>T						MARCH1_ENST00000514618.1_Silent_p.E389E|MARCH1_ENST00000274056.7_Silent_p.E133E|MARCH1_ENST00000339875.5_Silent_p.E116E	p.E133E	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN			6	1375	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	133					D3DP29|Q9NWR0	Silent	SNP	ENST00000503008.1	37	c.399G>A	CCDS54814.1																																																																																				0.483	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		14	69	0	0	0	1	0	14	69				
PCDHB11	56125	broad.mit.edu	37	5	140579830	140579830	+	Silent	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140579830T>C	ENST00000354757.3	+	1	483	c.483T>C	c.(481-483)gaT>gaC	p.D161D	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	161	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGATTTAGATGTAGGAATCA	0.408																																						ENST00000354757.3																			0				NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(481-483)gaT>gaC									90.0	97.0	95.0					5																	140579830		2203	4300	6503	SO:0001819	synonymous_variant	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140579830T>C	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.483T>C	5.37:g.140579830T>C						PCDHB11_ENST00000536699.1_Intron	p.D161D	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	483	+			161			Cadherin 2.		B4DSF7|Q2M223	Silent	SNP	ENST00000354757.3	37	c.483T>C	CCDS4253.1																																																																																				0.408	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		5	83	0	0	0	1	0	5	83				
OR2AG1	144125	broad.mit.edu	37	11	6806472	6806472	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:6806472C>A	ENST00000307401.4	+	1	225	c.204C>A	c.(202-204)ctC>ctA	p.L68L		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGCTCTCTCTCATGGACCTCC	0.557																																						ENST00000307401.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(202-204)ctC>ctA		olfactory receptor, family 2, subfamily AG, member 1							170.0	158.0	162.0					11																	6806472		2201	4293	6494	SO:0001819	synonymous_variant	144125				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6806472C>A	AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"""GPCR / Class A : Olfactory receptors"""	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.204C>A	11.37:g.6806472C>A							p.L68L	NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	225	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	68					B9EKV7|Q6IFG7|Q96R26	Silent	SNP	ENST00000307401.4	37	c.204C>A	CCDS31414.1																																																																																				0.557	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1	NM_001004489		16	143	1	0	1.15088e-07	1	1.50471e-07	16	143				
LRRC4C	57689	broad.mit.edu	37	11	40137716	40137716	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:40137716G>A	ENST00000278198.2	-	2	2090	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	LRRC4C_ENST00000527150.1_Missense_Mutation_p.R43W|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R43W|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R43W			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	43					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTCTGAGCCCGCACCAGACCA	0.542																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(127-129)Cgg>Tgg		leucine rich repeat containing 4C							63.0	57.0	59.0					11																	40137716		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137716G>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.127C>T	11.37:g.40137716G>A	ENSP00000278198:p.Arg43Trp					LRRC4C_ENST00000530763.1_Missense_Mutation_p.R43W|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R43W|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R43W	p.R43W			Q9HCJ2	LRC4C_HUMAN			2	2090	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	43					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.127C>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083429	0.76642	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.76	3.7	0.42460	.	0.000000	0.85682	D	0.000000	T	0.54111	0.1838	L	0.31926	0.97	0.49798	D	0.999825	D	0.71674	0.998	P	0.59171	0.853	T	0.50575	-0.8812	10	0.33141	T	0.24	.	11.6682	0.51387	0.0:0.0:0.4515:0.5485	.	43	Q9HCJ2	LRC4C_HUMAN	W	43	ENSP00000278198:R43W;ENSP00000436976:R43W;ENSP00000437132:R43W;ENSP00000434761:R43W	ENSP00000278198:R43W	R	-	1	2	LRRC4C	40094292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.010000	0.57117	1.393000	0.46605	0.650000	0.86243	CGG		0.542	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		7	32	0	0	0	1	0	7	32				
PSD3	23362	broad.mit.edu	37	8	18490169	18490169	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:18490169A>T	ENST00000327040.8	-	11	2466	c.2364T>A	c.(2362-2364)agT>agA	p.S788R	PSD3_ENST00000440756.2_Missense_Mutation_p.S790R|PSD3_ENST00000428502.2_Missense_Mutation_p.S117R|PSD3_ENST00000523619.1_Missense_Mutation_p.S723R|PSD3_ENST00000286485.8_Missense_Mutation_p.S254R	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	789	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CCAAGAATCCACTTTTGTACA	0.368																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2368-2370)agT>agA		pleckstrin and Sec7 domain containing 3							184.0	163.0	170.0					8																	18490169		2203	4300	6503	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18490169A>T	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2364T>A	8.37:g.18490169A>T	ENSP00000324127:p.Ser788Arg					PSD3_ENST00000327040.8_Missense_Mutation_p.S788R|PSD3_ENST00000428502.2_Missense_Mutation_p.S117R|PSD3_ENST00000523619.1_Missense_Mutation_p.S723R|PSD3_ENST00000286485.8_Missense_Mutation_p.S254R	p.S790R			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	11	2472	-			789			PH.		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.2370T>A	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.867491	0.51588	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000381690;ENST00000286485;ENST00000428502;ENST00000523619	T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33	5.93	2.23	0.28157	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.107749	0.33534	U	0.004805	T	0.71375	0.3332	N	0.12569	0.235	0.41089	D	0.985585	B;B;B;P	0.41624	0.082;0.015;0.005;0.757	B;B;B;P	0.51297	0.166;0.166;0.014;0.665	T	0.64927	-0.6292	10	0.31617	T	0.26	.	8.6701	0.34145	0.7758:0.0:0.2242:0.0	.	788;789;254;117	E9KL50;Q9NYI0;Q9NYI0-3;B4DKF8	.;PSD3_HUMAN;.;.	R	788;790;117;254;117;723	ENSP00000324127:S788R;ENSP00000401704:S790R;ENSP00000286485:S254R;ENSP00000393228:S117R;ENSP00000430640:S723R	ENSP00000286485:S254R	S	-	3	2	PSD3	18534449	0.995000	0.38212	0.999000	0.59377	0.987000	0.75469	0.395000	0.20850	0.148000	0.19059	0.533000	0.62120	AGT		0.368	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		4	48	0	0	0	1	0	4	48				
PPP1R3A	5506	broad.mit.edu	37	7	113518646	113518646	+	Missense_Mutation	SNP	C	C	G	rs562055126		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:113518646C>G	ENST00000284601.3	-	4	2569	c.2501G>C	c.(2500-2502)aGg>aCg	p.R834T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	834					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACATTTCTCCCTGTCATGTGT	0.373																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(2500-2502)aGg>aCg		protein phosphatase 1, regulatory subunit 3A							177.0	158.0	165.0					7																	113518646		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113518646C>G	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2501G>C	7.37:g.113518646C>G	ENSP00000284601:p.Arg834Thr						p.R834T	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	2569	-			834					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.2501G>C	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	7.639	0.680449	0.14907	.	.	ENSG00000154415	ENST00000284601	T	0.23950	1.88	5.92	1.99	0.26369	.	0.421812	0.24801	N	0.035486	T	0.25382	0.0617	M	0.67953	2.075	0.18873	N	0.999981	P	0.47191	0.891	B	0.40066	0.318	T	0.13629	-1.0502	10	0.87932	D	0	-0.1611	8.7569	0.34650	0.0:0.6277:0.1037:0.2686	.	834	Q16821	PPR3A_HUMAN	T	834	ENSP00000284601:R834T	ENSP00000284601:R834T	R	-	2	0	PPP1R3A	113305882	0.998000	0.40836	0.974000	0.42286	0.012000	0.07955	0.551000	0.23361	-0.104000	0.12154	-0.813000	0.03139	AGG		0.373	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		9	117	0	0	0	1	0	9	117				
CD99	4267	broad.mit.edu	37	X	2645376	2645376	+	Intron	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:2645376G>T	ENST00000381192.3	+	8	657				CD99_ENST00000482405.2_Intron|CD99_ENST00000381184.1_Missense_Mutation_p.R173L|CD99_ENST00000381187.3_Intron	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule						cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						GGGATCCGCCGTGAAGCTGGG	0.502																																						ENST00000381184.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						c.(517-519)cGt>cTt		CD99 molecule							44.0	40.0	41.0					X																	2645376		876	1991	2867	SO:0001627	intron_variant	4267				cell adhesion	cytoplasm|integral to plasma membrane		g.chrX:2645376G>T	M16279	CCDS14119.1, CCDS48071.1, CCDS75947.1	Xp22.32 and Yp11.3	2012-10-02	2006-03-28	2003-02-14	ENSG00000002586	ENSG00000002586		"""Pseudoautosomal regions / PAR1"", ""CD molecules"""	7082	protein-coding gene	gene with protein product		313470, 450000	"""antigen identified by monoclonal antibodies 12E7, F21 and O13"", ""CD99 antigen"""	MIC2			Standard	NM_001122898		Approved		uc004cqm.3	P14209	OTTHUMG00000021073	ENST00000381192.3:c.475+962G>T	X.37:g.2645376G>T						CD99_ENST00000482405.2_Intron|CD99_ENST00000381187.3_Intron|CD99_ENST00000381192.3_Intron	p.R173L			P14209	CD99_HUMAN			9	599	+			0		N -> I (in dbSNP:rs4717).			A6NIW1|O00518|Q6ICV7	Missense_Mutation	SNP	ENST00000381192.3	37	c.518G>T	CCDS14119.1	.	.	.	.	.	.	.	.	.	.	G	0.586	-0.835217	0.02713	.	.	ENSG00000002586	ENST00000381184	.	.	.	0.569	-1.14	0.09741	.	.	.	.	.	T	0.28300	0.0699	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28522	-1.0041	4	0.59425	D	0.04	.	.	.	.	.	.	.	.	L	173	.	ENSP00000370579:R173L	R	+	2	0	CD99	2655376	0.000000	0.05858	0.003000	0.11579	0.108000	0.19459	-1.874000	0.01636	-1.297000	0.02351	0.179000	0.17066	CGT		0.502	CD99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055624.1	NM_001122898		6	22	1	0	0.00198382	1	0.00216905	6	22				
RNF40	9810	broad.mit.edu	37	16	30774845	30774845	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:30774845C>A	ENST00000324685.6	+	4	842	c.407C>A	c.(406-408)aCt>aAt	p.T136N	RNF40_ENST00000563683.1_Missense_Mutation_p.T136N|C16orf93_ENST00000541260.1_5'Flank|C16orf93_ENST00000543610.1_5'Flank|RNF40_ENST00000357890.5_Missense_Mutation_p.T136N|RNF40_ENST00000402121.3_Intron|C16orf93_ENST00000545825.1_5'Flank	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	136					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			TGTGATGGGACTCCTCTCCCA	0.617																																						ENST00000324685.6																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30						c.(406-408)aCt>aAt		ring finger protein 40, E3 ubiquitin protein ligase							41.0	43.0	42.0					16																	30774845		2197	4300	6497	SO:0001583	missense	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30774845C>A	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.407C>A	16.37:g.30774845C>A	ENSP00000325677:p.Thr136Asn					RNF40_ENST00000402121.3_Intron|RNF40_ENST00000357890.5_Missense_Mutation_p.T136N|RNF40_ENST00000563683.1_Missense_Mutation_p.T136N	p.T136N	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		4	842	+			136					Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	c.407C>A	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.182589	0.38511	.	.	ENSG00000103549	ENST00000324685;ENST00000357890	T;T	0.31510	1.49;1.49	5.84	3.83	0.44106	.	0.431409	0.26750	N	0.022688	T	0.24624	0.0597	L	0.44542	1.39	0.80722	D	1	B;B;B	0.21905	0.062;0.01;0.024	B;B;B	0.17722	0.015;0.013;0.019	T	0.05178	-1.0901	10	0.59425	D	0.04	-5.1205	7.6822	0.28520	0.0:0.7734:0.0:0.2266	.	136;136;136	O75150-4;A8K6K1;O75150	.;.;BRE1B_HUMAN	N	136	ENSP00000325677:T136N;ENSP00000350563:T136N	ENSP00000325677:T136N	T	+	2	0	RNF40	30682346	0.075000	0.21258	0.995000	0.50966	0.484000	0.33280	0.218000	0.17622	0.705000	0.31890	0.563000	0.77884	ACT		0.617	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		11	57	1	0	4.68919e-08	1	6.23169e-08	11	57				
DPEP1	1800	broad.mit.edu	37	16	89703741	89703741	+	Missense_Mutation	SNP	G	G	A	rs148240484	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:89703741G>A	ENST00000393092.3	+	7	1012	c.721G>A	c.(721-723)Gtg>Atg	p.V241M	DPEP1_ENST00000421184.1_Missense_Mutation_p.V241M|DPEP1_ENST00000261615.4_Missense_Mutation_p.V241M	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	241					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GGCCTACAGCGTGTGCGCAAG	0.687													G|||	6	0.00119808	0.0038	0.0014	5008	,	,		15743	0.0		0.0	False		,,,				2504	0.0					ENST00000393092.3																			0				large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14						c.(721-723)Gtg>Atg		dipeptidase 1 (renal)	Cilastatin(DB01597)	G	MET/VAL,MET/VAL	20,4362	26.2+/-53.5	0,20,2171	50.0	46.0	47.0		721,721	-9.0	0.0	16	dbSNP_134	47	2,8576	2.2+/-6.3	0,2,4287	yes	missense,missense	DPEP1	NM_001128141.1,NM_004413.3	21,21	0,22,6458	AA,AG,GG		0.0233,0.4564,0.1698	benign,benign	241/412,241/412	89703741	22,12938	2191	4289	6480	SO:0001583	missense	1800				proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr16:89703741G>A		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.721G>A	16.37:g.89703741G>A	ENSP00000376807:p.Val241Met					DPEP1_ENST00000421184.1_Missense_Mutation_p.V241M|DPEP1_ENST00000261615.4_Missense_Mutation_p.V241M	p.V241M	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0258)	7	1012	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	241					D3DX80|Q96AK2	Missense_Mutation	SNP	ENST00000393092.3	37	c.721G>A	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631243	0.28978	0.004564	2.33E-4	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.26067	1.76;1.76;1.76	5.12	-9.02	0.00741	.	1.232820	0.05592	N	0.574898	T	0.21761	0.0524	L	0.54965	1.715	0.09310	N	0.999999	D	0.55800	0.973	P	0.45119	0.47	T	0.47799	-0.9089	10	0.87932	D	0	-4.2336	5.7843	0.18324	0.3793:0.2478:0.3145:0.0584	.	241	P16444	DPEP1_HUMAN	M	241	ENSP00000397313:V241M;ENSP00000376807:V241M;ENSP00000261615:V241M	ENSP00000261615:V241M	V	+	1	0	DPEP1	88231242	0.000000	0.05858	0.001000	0.08648	0.469000	0.32828	-4.753000	0.00190	-0.899000	0.03901	-0.540000	0.04249	GTG		0.687	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	NM_001128141		11	34	0	0	0	1	0	11	34				
TRIM3	10612	broad.mit.edu	37	11	6477633	6477633	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:6477633G>A	ENST00000525074.1	-	6	1717	c.1323C>T	c.(1321-1323)ccC>ccT	p.P441P	TRIM3_ENST00000537602.1_Silent_p.P363P|TRIM3_ENST00000529058.1_Intron|TRIM3_ENST00000345851.3_Silent_p.P441P|TRIM3_ENST00000536344.1_Silent_p.P322P|TRIM3_ENST00000359518.3_Silent_p.P441P	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	441					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGGCTGCCGGGGCCGCCAG	0.667																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(1321-1323)ccC>ccT		tripartite motif containing 3							37.0	37.0	37.0					11																	6477633		2201	4296	6497	SO:0001819	synonymous_variant	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6477633G>A	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1323C>T	11.37:g.6477633G>A						TRIM3_ENST00000537602.1_Silent_p.P363P|TRIM3_ENST00000536344.1_Silent_p.P322P|TRIM3_ENST00000345851.3_Silent_p.P441P|TRIM3_ENST00000529058.1_Intron|TRIM3_ENST00000359518.3_Silent_p.P441P	p.P441P	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	6	1717	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	441					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Silent	SNP	ENST00000525074.1	37	c.1323C>T	CCDS7764.1																																																																																				0.667	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		6	36	0	0	0	1	0	6	36				
SERPINA11	256394	broad.mit.edu	37	14	94914628	94914628	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:94914628C>G	ENST00000334708.3	-	2	548	c.484G>C	c.(484-486)Gga>Cga	p.G162R	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	162					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GCAAAAGCTCCATAAAGCTCC	0.468																																						ENST00000334708.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24						c.(484-486)Gga>Cga		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11							152.0	161.0	158.0					14																	94914628		2203	4300	6503	SO:0001583	missense	256394				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94914628C>G	BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.484G>C	14.37:g.94914628C>G	ENSP00000335024:p.Gly162Arg					RP11-349I1.2_ENST00000536735.1_RNA	p.G162R	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	548	-			162					B2RV07	Missense_Mutation	SNP	ENST00000334708.3	37	c.484G>C	CCDS32149.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.820671	0.32145	.	.	ENSG00000186910	ENST00000334708	D	0.88509	-2.39	5.04	4.16	0.48862	Serpin domain (3);	0.204155	0.33144	N	0.005223	D	0.87565	0.6209	L	0.56199	1.76	0.09310	N	1	P	0.46987	0.888	P	0.51079	0.658	T	0.77253	-0.2656	10	0.19590	T	0.45	.	7.5579	0.27835	0.0:0.716:0.1404:0.1436	.	162	Q86U17	SPA11_HUMAN	R	162	ENSP00000335024:G162R	ENSP00000335024:G162R	G	-	1	0	SERPINA11	93984381	0.000000	0.05858	0.046000	0.18839	0.557000	0.35523	-0.618000	0.05578	1.351000	0.45789	0.655000	0.94253	GGA		0.468	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451		15	232	0	0	0	1	0	15	232				
GBP3	2635	broad.mit.edu	37	1	89474740	89474740	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:89474740C>T	ENST00000370481.4	-	10	1769	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K		NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	0	Sufficient for membrane association.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TTCTCTTTCTCTTCCATCATC	0.438																																						ENST00000370481.4																			0				breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26						c.(1549-1551)Gag>Aag		guanylate binding protein 3							222.0	181.0	195.0					1																	89474740		2203	4300	6503	SO:0001583	missense	2635					integral to membrane	GTP binding|GTPase activity	g.chr1:89474740C>T	BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.1549G>A	1.37:g.89474740C>T	ENSP00000359512:p.Glu517Lys						p.E517K	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN		all cancers(265;0.0103)|Epithelial(280;0.0293)	10	1769	-		Lung NSC(277;0.123)	517					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000370481.4	37	c.1549G>A	CCDS717.2	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092067	0.55968	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000445969	T;T	0.02050	4.48;4.48	3.53	0.358	0.16084	Guanylate-binding protein, C-terminal (3);	0.895855	0.09707	N	0.766230	T	0.01835	0.0058	M	0.64404	1.975	0.21147	N	0.999772	P;P	0.41366	0.747;0.675	P;P	0.45167	0.46;0.472	T	0.38802	-0.9644	10	0.37606	T	0.19	.	13.5651	0.61813	0.0:0.6624:0.3376:0.0	.	383;517	F6X827;Q9H0R5	.;GBP3_HUMAN	K	485;517;97	ENSP00000359512:E517K;ENSP00000415087:E97K	ENSP00000359512:E517K	E	-	1	0	GBP3	89247328	0.000000	0.05858	0.936000	0.37596	0.217000	0.24651	-0.519000	0.06260	-0.023000	0.13963	-0.431000	0.05894	GAG		0.438	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284		10	58	0	0	0	1	0	10	58				
CUBN	8029	broad.mit.edu	37	10	16911675	16911675	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:16911675C>T	ENST00000377833.4	-	59	9479	c.9414G>A	c.(9412-9414)caG>caA	p.Q3138Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3138	CUB 23. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTTTGCTGTCTGAAATGAAT	0.433																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(9412-9414)caG>caA		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						159.0	172.0	168.0					10																	16911675		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16911675C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9414G>A	10.37:g.16911675C>T							p.Q3138Q	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			59	9479	-			3138			CUB 23.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.9414G>A	CCDS7113.1																																																																																				0.433	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		10	118	0	0	0	1	0	10	118				
VPS13A	23230	broad.mit.edu	37	9	79960036	79960036	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:79960036G>T	ENST00000360280.3	+	52	7527	c.7267G>T	c.(7267-7269)Gaa>Taa	p.E2423*	VPS13A_ENST00000376636.3_Nonsense_Mutation_p.E2384*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.E2423*|VPS13A_ENST00000376634.4_Nonsense_Mutation_p.E2423*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2423					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CACAAAGAATGAACTTGTTCA	0.318																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(7267-7269)Gaa>Taa		vacuolar protein sorting 13 homolog A (S. cerevisiae)							137.0	136.0	136.0					9																	79960036		2203	4298	6501	SO:0001587	stop_gained	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79960036G>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.7267G>T	9.37:g.79960036G>T	ENSP00000353422:p.Glu2423*					VPS13A_ENST00000376634.4_Nonsense_Mutation_p.E2423*|VPS13A_ENST00000376636.3_Nonsense_Mutation_p.E2384*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.E2423*	p.E2423*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			52	7527	+			2423					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Nonsense_Mutation	SNP	ENST00000360280.3	37	c.7267G>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	46	12.304999	0.99655	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	.	.	.	5.26	3.4	0.38934	.	0.364435	0.28247	N	0.016046	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	10.26	0.43421	0.0748:0.1369:0.7883:0.0	.	.	.	.	X	2423;2384;2423;2423	.	ENSP00000349985:E2423X	E	+	1	0	VPS13A	79149856	1.000000	0.71417	0.956000	0.39512	0.047000	0.14425	3.249000	0.51437	0.588000	0.29660	-0.283000	0.09986	GAA		0.318	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		6	107	1	0	0.0215528	1	0.0223551	6	107				
TRIM32	22954	broad.mit.edu	37	9	119460324	119460324	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:119460324G>T	ENST00000450136.1	+	2	464	c.303G>T	c.(301-303)cgG>cgT	p.R101R	ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Silent_p.R101R|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	101					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						TCATGTGTCGGTCCTGTGGGC	0.597																																					Esophageal Squamous(92;212 1916 19711 26951)	ENST00000450136.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(301-303)cgG>cgT		tripartite motif containing 32							65.0	66.0	66.0					9																	119460324		2203	4300	6503	SO:0001819	synonymous_variant	22954				fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119460324G>T	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.303G>T	9.37:g.119460324G>T						ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Silent_p.R101R|ASTN2_ENST00000313400.4_Intron	p.R101R	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN			2	464	+			101					Q9NQP8	Silent	SNP	ENST00000450136.1	37	c.303G>T	CCDS6817.1																																																																																				0.597	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		16	100	1	0	9.16793e-09	1	1.24709e-08	16	100				
PSD4	23550	broad.mit.edu	37	2	113940308	113940308	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:113940308G>A	ENST00000245796.6	+	2	470	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	PSD4_ENST00000441564.3_Missense_Mutation_p.R92Q|PSD4_ENST00000465917.1_3'UTR	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	92					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGCAAACCCGGGCCACTGAC	0.642																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(274-276)cGg>cAg		pleckstrin and Sec7 domain containing 4							49.0	51.0	50.0					2																	113940308		2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113940308G>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.275G>A	2.37:g.113940308G>A	ENSP00000245796:p.Arg92Gln					PSD4_ENST00000441564.2_Missense_Mutation_p.R92Q|PSD4_ENST00000465917.1_3'UTR	p.R92Q	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			2	470	+			92					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.275G>A	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755603	0.31046	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.09911	2.95;2.93	4.06	2.18	0.27775	.	1.892040	0.02360	N	0.076792	T	0.06600	0.0169	N	0.08118	0	0.09310	N	1	B;B	0.17667	0.023;0.013	B;B	0.17098	0.017;0.008	T	0.32428	-0.9907	10	0.25751	T	0.34	.	5.5188	0.16921	0.1132:0.2033:0.6835:0.0	.	92;92	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	Q	92	ENSP00000245796:R92Q;ENSP00000413997:R92Q	ENSP00000245796:R92Q	R	+	2	0	PSD4	113656779	0.546000	0.26457	0.010000	0.14722	0.149000	0.21700	0.741000	0.26202	0.441000	0.26529	0.313000	0.20887	CGG		0.642	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		8	55	0	0	0	1	0	8	55				
DAB2	1601	broad.mit.edu	37	5	39376173	39376173	+	Missense_Mutation	SNP	G	G	T	rs73078542	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:39376173G>T	ENST00000320816.6	-	13	2640	c.2173C>A	c.(2173-2175)Cca>Aca	p.P725T	DAB2_ENST00000509337.1_Missense_Mutation_p.P704T|DAB2_ENST00000545653.1_Missense_Mutation_p.P704T|DAB2_ENST00000339788.6_Missense_Mutation_p.P507T	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	725	Required for interaction with MYO6. {ECO:0000250}.|Sufficient for interaction with GRB2. {ECO:0000250}.|Sufficient for interaction with SH3KBP1 SH3 domain. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)	p.P725S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTGGTAACTGGCAGGGAAACT	0.428													G|||	10	0.00199681	0.0068	0.0014	5008	,	,		15275	0.0		0.0	False		,,,				2504	0.0					ENST00000545653.1																			1	Substitution - Missense(1)	p.P725S(1)	skin(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47						c.(2110-2112)Cca>Aca		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)		G	THR/PRO	19,4387	25.3+/-52.1	0,19,2184	101.0	103.0	102.0		2173	1.8	1.0	5	dbSNP_130	102	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DAB2	NM_001343.3	38	0,20,6483	TT,TG,GG		0.0116,0.4312,0.1538	benign	725/771	39376173	20,12986	2203	4300	6503	SO:0001583	missense	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39376173G>T	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.2173C>A	5.37:g.39376173G>T	ENSP00000313391:p.Pro725Thr					DAB2_ENST00000339788.6_Missense_Mutation_p.P507T|DAB2_ENST00000320816.6_Missense_Mutation_p.P725T|DAB2_ENST00000509337.1_Missense_Mutation_p.P704T	p.P704T	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Epithelial(62;0.137)		12	2640	-	all_lung(31;0.000197)		725			Required for interaction with MYO6 (By similarity).		A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.2110C>A	CCDS34149.1	7	0.003205128205128205	6	0.012195121951219513	1	0.0027624309392265192	0	0.0	0	0.0	G	13.25	2.181213	0.38511	0.004312	1.16E-4	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	T;T;T;T	0.46063	0.98;0.96;0.88;0.88	5.76	1.77	0.24775	.	0.525167	0.22522	N	0.058952	T	0.24084	0.0583	L	0.47716	1.5	0.09310	N	1	B;B	0.28055	0.062;0.199	B;B	0.30572	0.024;0.117	T	0.11792	-1.0573	10	0.28530	T	0.3	-0.9121	6.6237	0.22818	0.283:0.1319:0.5851:0.0	.	725;704	P98082;P98082-3	DAB2_HUMAN;.	T	725;507;704;704	ENSP00000313391:P725T;ENSP00000345508:P507T;ENSP00000439919:P704T;ENSP00000426245:P704T	ENSP00000313391:P725T	P	-	1	0	DAB2	39411930	0.992000	0.36948	0.971000	0.41717	0.981000	0.71138	1.642000	0.37207	0.761000	0.33130	0.655000	0.94253	CCA		0.428	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		5	73	1	0	0.0215528	1	0.0223551	5	73				
PDHA2	5161	broad.mit.edu	37	4	96761496	96761496	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:96761496G>T	ENST00000295266.4	+	1	258	c.195G>T	c.(193-195)atG>atT	p.M65I		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	65					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		ACTACAGGATGATGCTGACTG	0.463																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(193-195)atG>atT		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						88.0	78.0	81.0					4																	96761496		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761496G>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.195G>T	4.37:g.96761496G>T	ENSP00000295266:p.Met65Ile						p.M65I	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	258	+		Hepatocellular(203;0.114)	65					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.195G>T	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270388	0.23221	.	.	ENSG00000163114	ENST00000295266	D	0.95656	-3.77	4.81	1.92	0.25849	Dehydrogenase, E1 component (1);	0.445166	0.24597	N	0.037180	D	0.88213	0.6376	N	0.21448	0.665	0.18873	N	0.999984	B	0.06786	0.001	B	0.09377	0.004	T	0.78259	-0.2273	10	0.45353	T	0.12	-7.28	3.521	0.07741	0.0994:0.4054:0.3518:0.1434	.	65	P29803	ODPAT_HUMAN	I	65	ENSP00000295266:M65I	ENSP00000295266:M65I	M	+	3	0	PDHA2	96980519	0.036000	0.19791	0.623000	0.29173	0.724000	0.41520	0.304000	0.19228	0.728000	0.32382	0.467000	0.42956	ATG		0.463	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			5	59	1	0	0.000602214	1	0.000673014	5	59				
TAOK3	51347	broad.mit.edu	37	12	118619223	118619223	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:118619223C>T	ENST00000392533.3	-	15	2009	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	TAOK3_ENST00000419821.2_Missense_Mutation_p.E507K|TAOK3_ENST00000537952.1_Missense_Mutation_p.E47K	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	507					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCTCCAGCTCGATGGACGAG	0.562											OREG0022177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000392533.3																			0				central_nervous_system(1)|lung(5)|skin(1)	7						c.(1519-1521)Gag>Aag		TAO kinase 3							175.0	136.0	149.0					12																	118619223		2203	4300	6503	SO:0001583	missense	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118619223C>T	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.1519G>A	12.37:g.118619223C>T	ENSP00000376317:p.Glu507Lys		OREG0022177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1489	TAOK3_ENST00000537952.1_Missense_Mutation_p.E47K|TAOK3_ENST00000419821.2_Missense_Mutation_p.E507K	p.E507K	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN			15	2009	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		507					Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	c.1519G>A	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	C	36	5.835452	0.97003	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000537952;ENST00000359811	T;T;T	0.48836	0.8;0.8;0.8	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.71871	0.3391	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.74794	-0.3544	10	0.87932	D	0	.	19.4372	0.94801	0.0:1.0:0.0:0.0	.	507	Q9H2K8	TAOK3_HUMAN	K	507;507;47;127	ENSP00000416374:E507K;ENSP00000376317:E507K;ENSP00000443834:E47K	ENSP00000352863:E127K	E	-	1	0	TAOK3	117103606	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.827000	0.97445	0.650000	0.86243	GAG		0.562	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		5	63	0	0	0	1	0	5	63				
KRT13	3860	broad.mit.edu	37	17	39659320	39659320	+	Missense_Mutation	SNP	C	C	G	rs140780704		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:39659320C>G	ENST00000246635.3	-	4	812	c.766G>C	c.(766-768)Ggc>Cgc	p.G256R	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Missense_Mutation_p.G256R|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000336861.3_Missense_Mutation_p.G256R	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	256	Linker 12.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TTGACCTGGCCGACCACCTGG	0.587																																						ENST00000246635.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(766-768)Ggc>Cgc		keratin 13							211.0	204.0	206.0					17																	39659320		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39659320C>G		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.766G>C	17.37:g.39659320C>G	ENSP00000246635:p.Gly256Arg					KRT13_ENST00000587544.1_Missense_Mutation_p.G256R|KRT13_ENST00000336861.3_Missense_Mutation_p.G256R	p.G256R	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN			4	812	-		Breast(137;0.000286)	256			Linker 12.|Rod.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.766G>C	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212557	0.79240	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	T;T	0.77098	-1.07;-1.07	4.32	4.32	0.51571	Filament (1);	0.000000	0.48286	D	0.000195	D	0.88735	0.6517	M	0.83603	2.65	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.997;0.999	D	0.90370	0.4380	10	0.62326	D	0.03	.	17.3545	0.87332	0.0:1.0:0.0:0.0	.	244;256;256;256	P13646-2;A1A4E9;P13646-3;P13646	.;.;.;K1C13_HUMAN	R	256;256;244	ENSP00000246635:G256R;ENSP00000336604:G256R	ENSP00000157775:G244R	G	-	1	0	KRT13	36912846	1.000000	0.71417	0.945000	0.38365	0.783000	0.44284	7.125000	0.77193	2.401000	0.81631	0.561000	0.74099	GGC		0.587	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		75	314	0	0	0	1	0	75	314				
B3GALNT1	8706	broad.mit.edu	37	3	160804104	160804104	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:160804104C>T	ENST00000392781.2	-	8	1186	c.439G>A	c.(439-441)Gat>Aat	p.D147N	B3GALNT1_ENST00000488170.1_Missense_Mutation_p.D147N|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.D147N|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.D147N|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.D147N|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.D147N	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	147					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			TCTAAAAAATCTTGTCGGATT	0.383																																						ENST00000392781.2																			0				breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(439-441)Gat>Aat		beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)							85.0	83.0	84.0					3																	160804104		2203	4300	6503	SO:0001583	missense	8706				protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr3:160804104C>T	Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"""Blood group antigens"", ""Beta 3-glycosyltransferases"""	918	protein-coding gene	gene with protein product	"""globoside synthase"", ""P antigen synthase"""	603094	"""UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)"", ""UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"""	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.439G>A	3.37:g.160804104C>T	ENSP00000376532:p.Asp147Asn					B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.D147N|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.D147N|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.D147N|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.D147N|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.D147N	p.D147N	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)		8	1186	-			147					D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Missense_Mutation	SNP	ENST00000392781.2	37	c.439G>A	CCDS3193.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757352	0.49468	.	.	ENSG00000169255	ENST00000320474;ENST00000392779;ENST00000392780;ENST00000392781;ENST00000473285;ENST00000488170	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	5.81	4.05	0.47172	.	0.079472	0.53938	N	0.000054	T	0.39860	0.1094	L	0.33093	0.98	0.38711	D	0.953223	P	0.42735	0.788	B	0.37144	0.242	T	0.41197	-0.9522	10	0.56958	D	0.05	.	11.8027	0.52137	0.0:0.859:0.0:0.141	.	147	O75752	B3GL1_HUMAN	N	147	ENSP00000323479:D147N;ENSP00000376530:D147N;ENSP00000376531:D147N;ENSP00000376532:D147N;ENSP00000418226:D147N;ENSP00000420163:D147N	ENSP00000323479:D147N	D	-	1	0	B3GALNT1	162286798	0.649000	0.27322	0.865000	0.33974	0.777000	0.43975	1.274000	0.33132	0.822000	0.34565	-0.369000	0.07265	GAT		0.383	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353125.1	NM_033167		17	101	0	0	0	1	0	17	101				
SEMA4D	10507	broad.mit.edu	37	9	92014251	92014251	+	Silent	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:92014251C>G	ENST00000450295.1	-	5	1031	c.255G>C	c.(253-255)gtG>gtC	p.V85V	SEMA4D_ENST00000420987.1_Silent_p.V85V|SEMA4D_ENST00000455551.2_Silent_p.V85V|SEMA4D_ENST00000356444.2_Silent_p.V85V|SEMA4D_ENST00000339861.4_Silent_p.V85V|SEMA4D_ENST00000438547.2_Silent_p.V85V|SEMA4D_ENST00000343780.4_Silent_p.V85V|SEMA4D_ENST00000422704.2_Silent_p.V85V			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	85	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CCTTCCAATACACCTGTTGGG	0.343																																						ENST00000450295.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(253-255)gtG>gtC		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D							154.0	150.0	151.0					9																	92014251		2203	4300	6503	SO:0001819	synonymous_variant	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:92014251C>G	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.255G>C	9.37:g.92014251C>G						SEMA4D_ENST00000339861.4_Silent_p.V85V|SEMA4D_ENST00000455551.2_Silent_p.V85V|SEMA4D_ENST00000422704.2_Silent_p.V85V|SEMA4D_ENST00000420987.1_Silent_p.V85V|SEMA4D_ENST00000438547.2_Silent_p.V85V|SEMA4D_ENST00000343780.4_Silent_p.V85V|SEMA4D_ENST00000356444.2_Silent_p.V85V	p.V85V			Q92854	SEM4D_HUMAN			5	1031	-			85			Sema.		B2RPM6|Q7Z5S4|Q8N8B0	Silent	SNP	ENST00000450295.1	37	c.255G>C	CCDS6685.1																																																																																				0.343	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		5	79	0	0	0	1	0	5	79				
ATP9B	374868	broad.mit.edu	37	18	77108131	77108131	+	Splice_Site	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:77108131G>A	ENST00000426216.2	+	25	2855		c.e25-1		ATP9B_ENST00000307671.7_Splice_Site|ATP9B_ENST00000543761.1_Splice_Site	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B						establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TCTCTCTCCAGGCTGTGTTTT	0.562																																						ENST00000426216.2																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38						c.e25-1		ATPase, class II, type 9B							228.0	192.0	204.0					18																	77108131		2203	4300	6503	SO:0001630	splice_region_variant	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:77108131G>A	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.2839-1G>A	18.37:g.77108131G>A						ATP9B_ENST00000307671.7_Splice_Site|ATP9B_ENST00000543761.1_Splice_Site		NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	25	2855	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)						O60872|Q08AD8|Q08AD9	Splice_Site	SNP	ENST00000426216.2	37		CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.982293	0.53827	.	.	ENSG00000166377	ENST00000426216;ENST00000359184;ENST00000307671;ENST00000543761	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.238	0.87005	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP9B	75209119	1.000000	0.71417	0.863000	0.33907	0.443000	0.32047	8.081000	0.89511	2.376000	0.81061	0.655000	0.94253	.		0.562	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531	Intron	10	86	0	0	0	1	0	10	86				
ADAMTSL3	57188	broad.mit.edu	37	15	84683344	84683344	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:84683344G>T	ENST00000286744.5	+	24	4248	c.4024G>T	c.(4024-4026)Ggc>Tgc	p.G1342C	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G1342C	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1342	Ig-like C2-type 3.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATCTCTGAGTGGCAATGTTTC	0.423																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(4024-4026)Ggc>Tgc		ADAMTS-like 3							224.0	196.0	206.0					15																	84683344		2203	4299	6502	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84683344G>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.4024G>T	15.37:g.84683344G>T	ENSP00000286744:p.Gly1342Cys					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G1342C	p.G1342C	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		24	4248	+			1342			Ig-like C2-type 3.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.4024G>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945160	0.53079	.	.	ENSG00000156218	ENST00000286744	T	0.33865	1.39	4.7	3.78	0.43462	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.599200	0.13917	N	0.353828	T	0.42471	0.1204	M	0.63208	1.945	0.25467	N	0.987868	P;B	0.41947	0.766;0.427	P;B	0.48368	0.575;0.401	T	0.33599	-0.9862	10	0.62326	D	0.03	.	7.0091	0.24853	0.2596:0.0:0.7404:0.0	.	1342;1342	P82987-2;P82987	.;ATL3_HUMAN	C	1342	ENSP00000286744:G1342C	ENSP00000286744:G1342C	G	+	1	0	ADAMTSL3	82474348	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.155000	0.42301	2.145000	0.66743	0.555000	0.69702	GGC		0.423	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		11	104	1	0	5.50884e-06	1	6.76465e-06	11	104				
CFAP221	200373	broad.mit.edu	37	2	120362332	120362332	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:120362332C>A	ENST00000413369.3	+	9	963	c.876C>A	c.(874-876)caC>caA	p.H292Q	PCDP1_ENST00000602047.1_Missense_Mutation_p.H6Q|PCDP1_ENST00000597189.1_3'UTR	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					TAAATTTTCACCGACCGCCAG	0.448																																						ENST00000602047.1																			0											c.(16-18)caC>caA									52.0	56.0	55.0					2																	120362332		2203	4300	6503	SO:0001583	missense	200373					cilium	calmodulin binding	g.chr2:120362332C>A																												ENST00000413369.3:c.876C>A	2.37:g.120362332C>A	ENSP00000393222:p.His292Gln					PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000413369.3_Missense_Mutation_p.H292Q	p.H6Q			Q4G0U5	PCDP1_HUMAN			10	1130	+	Colorectal(110;0.196)		292						Missense_Mutation	SNP	ENST00000413369.3	37	c.18C>A	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	C	9.858	1.195425	0.22037	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.18338	2.22	5.41	-0.0491	0.13836	.	1.395530	0.04301	N	0.347337	T	0.07503	0.0189	N	0.04508	-0.205	0.09310	N	1	B;B	0.14438	0.01;0.001	B;B	0.10450	0.005;0.003	T	0.31475	-0.9942	10	0.23302	T	0.38	-0.1328	3.4429	0.07470	0.1286:0.4922:0.2283:0.1509	.	136;292	Q4G0U5-3;Q4G0U5	.;PCDP1_HUMAN	Q	6;292	ENSP00000393222:H292Q	ENSP00000295220:H6Q	H	+	3	2	AC069154.2	120078802	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-0.921000	0.04008	0.102000	0.17638	0.655000	0.94253	CAC		0.448	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			10	61	1	0	1.58986e-06	1	1.99164e-06	10	61				
TMEM217	221468	broad.mit.edu	37	6	37183008	37183008	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:37183008G>A	ENST00000336655.2	-	3	695	c.656C>T	c.(655-657)cCc>cTc	p.P219L	TMEM217_ENST00000356757.2_Intron|TMEM217_ENST00000497775.1_Intron	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	219						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						acaggtgctgggggctgagct	0.403																																						ENST00000336655.2																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						c.(655-657)cCc>cTc		transmembrane protein 217							108.0	110.0	110.0					6																	37183008		2203	4300	6503	SO:0001583	missense	221468					integral to membrane		g.chr6:37183008G>A		CCDS4831.1, CCDS69102.1	6p21.31-p21.2	2008-10-20	2008-07-07	2008-07-07	ENSG00000172738	ENSG00000172738			21238	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 128"""	C6orf128			Standard	NM_001162900		Approved	dJ355M6.2	uc010jws.3	Q8N7C4	OTTHUMG00000014618	ENST00000336655.2:c.656C>T	6.37:g.37183008G>A	ENSP00000338164:p.Pro219Leu					TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Intron	p.P219L	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN			3	695	-			219					Q8TC54	Missense_Mutation	SNP	ENST00000336655.2	37	c.656C>T	CCDS4831.1	.	.	.	.	.	.	.	.	.	.	G	6.929	0.541097	0.13250	.	.	ENSG00000172738	ENST00000336655	.	.	.	1.62	0.745	0.18359	.	.	.	.	.	T	0.06142	0.0159	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34750	-0.9816	8	0.87932	D	0	.	4.1998	0.10460	0.2152:0.0:0.7848:0.0	.	219	Q8N7C4	TM217_HUMAN	L	219	.	ENSP00000338164:P219L	P	-	2	0	TMEM217	37290986	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.552000	0.23376	0.275000	0.22094	-0.369000	0.07265	CCC		0.403	TMEM217-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357542.1	NM_145316		20	63	0	0	0	1	0	20	63				
IGKV1-27	28935	broad.mit.edu	37	2	89512990	89512990	+	RNA	SNP	C	C	A	rs533776896		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:89512990C>A	ENST00000498435.1	-	0	299									immunoglobulin kappa variable 1-27																		GAAATCTGTCCCAGATCCACT	0.493																																						ENST00000498435.1																			0																				98.0	92.0	94.0					2																	89512990		1882	4116	5998			28935							g.chr2:89512990C>A	X63398		2p11.2	2012-02-10			ENSG00000244575	ENSG00000244575		"""Immunoglobulins / IGK locus"""	5735	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV127, A20			OTTHUMG00000151640		2.37:g.89512990C>A														0	299	-									RNA	SNP	ENST00000498435.1	37																																																																																						0.493	IGKV1-27-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323389.1	NG_000834		17	104	1	0	2.37509e-13	1	3.54727e-13	17	104				
SLCO2A1	6578	broad.mit.edu	37	3	133661523	133661523	+	Silent	SNP	C	C	T	rs376344584		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:133661523C>T	ENST00000310926.4	-	11	1824	c.1551G>A	c.(1549-1551)ccG>ccA	p.P517P	SLCO2A1_ENST00000493729.1_Silent_p.P441P	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	517					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GGAAGATGGCCGGGAGCAGGA	0.562																																						ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(1549-1551)ccG>ccA		solute carrier organic anion transporter family, member 2A1							135.0	126.0	129.0					3																	133661523		2203	4300	6503	SO:0001819	synonymous_variant	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133661523C>T		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1551G>A	3.37:g.133661523C>T						SLCO2A1_ENST00000493729.1_Silent_p.P441P	p.P517P	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			11	1824	-			517					Q86V98|Q8IUN2	Silent	SNP	ENST00000310926.4	37	c.1551G>A	CCDS3084.1																																																																																				0.562	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		6	90	0	0	0	1	0	6	90				
REEP3	221035	broad.mit.edu	37	10	65354573	65354573	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:65354573C>T	ENST00000373758.4	+	3	324	c.141C>T	c.(139-141)ctC>ctT	p.L47L	REEP3_ENST00000298249.4_Silent_p.L32L	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	47					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)				endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTTTGCTCTCTATACTGTGA	0.353																																						ENST00000373758.4																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(139-141)ctC>ctT		receptor accessory protein 3							171.0	152.0	158.0					10																	65354573		1885	4134	6019	SO:0001819	synonymous_variant	221035					integral to membrane		g.chr10:65354573C>T	BC057832	CCDS44411.1	10q21.3	2011-01-05	2006-02-07	2006-02-07	ENSG00000165476	ENSG00000165476		"""Receptor accessory proteins"""	23711	protein-coding gene	gene with protein product		609348	"""chromosome 10 open reading frame 74"""	C10orf74		16271481, 15550249	Standard	NM_001001330		Approved		uc001jmt.3	Q6NUK4	OTTHUMG00000018318	ENST00000373758.4:c.141C>T	10.37:g.65354573C>T						REEP3_ENST00000298249.4_Silent_p.L32L	p.L47L	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN			3	324	+	Prostate(12;0.0119)|all_hematologic(501;0.191)		47					Q5JQR5|Q5QGT2|Q6PEW8|Q6PJY4	Silent	SNP	ENST00000373758.4	37	c.141C>T	CCDS44411.1																																																																																				0.353	REEP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001001330		6	46	0	0	0	1	0	6	46				
TTN	7273	broad.mit.edu	37	2	179585325	179585325	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:179585325G>T	ENST00000591111.1	-	78	22437	c.22213C>A	c.(22213-22215)Caa>Aaa	p.Q7405K	TTN_ENST00000342992.6_Missense_Mutation_p.Q6478K|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.Q7722K|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12965	Ig-like 56.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTCACATTGGAGAATCACA	0.388																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(23164-23166)Caa>Aaa		titin							51.0	46.0	48.0					2																	179585325		1806	4073	5879	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179585325G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22213C>A	2.37:g.179585325G>T	ENSP00000465570:p.Gln7405Lys					TTN_ENST00000342992.6_Missense_Mutation_p.Q6478K|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q7405K|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	p.Q7722K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		80	23388	-			7405			Ig-like 59.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.23164C>A		.	.	.	.	.	.	.	.	.	.	G	13.16	2.155618	0.38021	.	.	ENSG00000155657	ENST00000342992	T	0.66280	-0.2	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46678	0.1405	N	0.11651	0.15	0.80722	D	1	P	0.34462	0.454	B	0.34931	0.192	T	0.54337	-0.8309	9	0.87932	D	0	.	15.6774	0.77338	0.0:0.1363:0.8637:0.0	.	7405	Q8WZ42	TITIN_HUMAN	K	6478	ENSP00000343764:Q6478K	ENSP00000343764:Q6478K	Q	-	1	0	TTN	179293570	1.000000	0.71417	0.961000	0.40146	0.961000	0.63080	4.027000	0.57239	2.770000	0.95276	0.650000	0.86243	CAA		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	25	1	0	1.23904e-05	1	1.49648e-05	5	25				
CSMD3	114788	broad.mit.edu	37	8	113519006	113519006	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:113519006G>C	ENST00000297405.5	-	29	5053	c.4809C>G	c.(4807-4809)aaC>aaG	p.N1603K	CSMD3_ENST00000352409.3_Missense_Mutation_p.N1603K|CSMD3_ENST00000455883.2_Missense_Mutation_p.N1499K|CSMD3_ENST00000343508.3_Missense_Mutation_p.N1563K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1603	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GATGAGGGAAGTTTGGTGAAA	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(4807-4809)aaC>aaG		CUB and Sushi multiple domains 3							121.0	114.0	116.0					8																	113519006		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113519006G>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4809C>G	8.37:g.113519006G>C	ENSP00000297405:p.Asn1603Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.N1563K|CSMD3_ENST00000455883.2_Missense_Mutation_p.N1499K|CSMD3_ENST00000352409.3_Missense_Mutation_p.N1603K	p.N1603K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			29	5053	-			1603			CUB 9.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4809C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356102	0.61293	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	4.99	1.17	0.20885	CUB (5);	0.000000	0.85682	D	0.000000	T	0.51415	0.1673	M	0.90309	3.105	0.29030	N	0.885734	D;D;P	0.67145	0.995;0.996;0.938	D;D;P	0.69307	0.938;0.963;0.794	T	0.51466	-0.8702	10	0.44086	T	0.13	.	10.2855	0.43564	0.2528:0.0:0.7472:0.0	.	1499;1603;1563	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	1563;1603;943;1499;1603	ENSP00000345799:N1563K;ENSP00000297405:N1603K;ENSP00000341558:N943K;ENSP00000412263:N1499K;ENSP00000343124:N1603K	ENSP00000297405:N1603K	N	-	3	2	CSMD3	113588182	1.000000	0.71417	0.998000	0.56505	0.925000	0.55904	2.365000	0.44196	0.031000	0.15407	0.557000	0.71058	AAC		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		6	53	0	0	0	1	0	6	53				
ZGRF1	55345	broad.mit.edu	37	4	113483598	113483598	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:113483598C>T	ENST00000505019.1	-	18	4751	c.4626G>A	c.(4624-4626)ctG>ctA	p.L1542L		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1542						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TCAAAGTAGTCAGTTCTGTGC	0.353																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(4624-4626)ctG>ctA		chromosome 4 open reading frame 21							108.0	90.0	96.0					4																	113483598		2203	4300	6503	SO:0001819	synonymous_variant	55345							g.chr4:113483598C>T																												ENST00000505019.1:c.4626G>A	4.37:g.113483598C>T							p.L1542L	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	18	4751	-		Ovarian(17;0.156)	0					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	ENST00000505019.1	37	c.4626G>A																																																																																					0.353	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			3	10	0	0	0	1	0	3	10				
SLC44A5	204962	broad.mit.edu	37	1	75672399	75672399	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:75672399C>T	ENST00000370855.5	-	24	2166	c.2053G>A	c.(2053-2055)Gat>Aat	p.D685N	SLC44A5_ENST00000370859.3_Intron|SLC44A5_ENST00000535611.1_Missense_Mutation_p.D555N	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	685					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CTTTCCAGATCTTCACCTGTA	0.413																																						ENST00000370855.5																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(2053-2055)Gat>Aat		solute carrier family 44, member 5							130.0	124.0	126.0					1																	75672399		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75672399C>T	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.2053G>A	1.37:g.75672399C>T	ENSP00000359892:p.Asp685Asn					SLC44A5_ENST00000370859.3_Intron|SLC44A5_ENST00000535611.1_Missense_Mutation_p.D555N	p.D685N	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN			24	2166	-			685					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.2053G>A	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705462	0.68615	.	.	ENSG00000137968	ENST00000370855;ENST00000535611;ENST00000535790	T;T	0.34275	1.37;1.37	5.33	4.42	0.53409	.	0.096129	0.64402	D	0.000001	T	0.62841	0.2461	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75668	-0.3238	10	0.87932	D	0	-16.9418	13.8623	0.63569	0.0:0.9264:0.0:0.0736	.	679;685	B7Z5Y4;Q8NCS7	.;CTL5_HUMAN	N	685;555;678	ENSP00000359892:D685N;ENSP00000443090:D555N	ENSP00000359892:D685N	D	-	1	0	SLC44A5	75444987	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	7.487000	0.81328	1.260000	0.44134	-0.218000	0.12543	GAT		0.413	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		11	67	0	0	0	1	0	11	67				
TROAP	10024	broad.mit.edu	37	12	49723237	49723237	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:49723237G>T	ENST00000257909.3	+	11	1240	c.1164G>T	c.(1162-1164)tgG>tgT	p.W388C	TROAP_ENST00000547923.1_Splice_Site_p.W96C|TROAP_ENST00000551245.1_Splice_Site_p.W388C	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	388					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CCCTGCCCTGGGTAAGTATCA	0.607																																						ENST00000551245.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.e11+1		trophinin associated protein							133.0	103.0	113.0					12																	49723237		2203	4300	6503	SO:0001630	splice_region_variant	10024				cell adhesion	cytoplasm		g.chr12:49723237G>T	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.1164+1G>T	12.37:g.49723237G>T						TROAP_ENST00000547923.1_Splice_Site_p.W96_splice|TROAP_ENST00000257909.3_Splice_Site_p.W388_splice	p.W388_splice			Q12815	TROAP_HUMAN			11	1275	+			388					F8VSF9|Q6PJU7|Q8N5B2	Splice_Site	SNP	ENST00000257909.3	37	c.1164_splice	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595299	0.66219	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	5.15	5.15	0.70609	.	0.238702	0.30374	N	0.009762	T	0.68997	0.3062	L	0.47190	1.495	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.67313	-0.5702	9	0.41790	T	0.15	-10.8064	14.4832	0.67597	0.0:0.0:1.0:0.0	.	388;96;388	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	C	388;388;96	.	ENSP00000257909:W388C	W	+	3	0	TROAP	48009504	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.145000	0.58065	2.566000	0.86566	0.561000	0.74099	TGG		0.607	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480	Missense_Mutation	14	41	1	0	3.27435e-08	1	4.37302e-08	14	41				
FAM220A	84792	broad.mit.edu	37	7	6370094	6370094	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:6370094A>T	ENST00000313324.4	-	2	1159	c.692T>A	c.(691-693)cTt>cAt	p.L231H	FAM220A_ENST00000533877.1_5'Flank	NM_001037163.1	NP_001032240.1	Q7Z4H9	F220A_HUMAN	family with sequence similarity 220, member A	231						nucleus (GO:0005634)											GGTGCTTTTAAGCATTTTCTT	0.408																																						ENST00000313324.4																			0											c.(691-693)cTt>cAt		family with sequence similarity 220, member A							99.0	105.0	103.0					7																	6370094		2203	4300	6503	SO:0001583	missense	84792					nucleus		g.chr7:6370094A>T	BC006110	CCDS34599.1	7p22.1	2012-03-19	2012-03-19	2012-03-19	ENSG00000178397	ENSG00000178397			22422	protein-coding gene	gene with protein product	"""STAT3-interacting protein as a repressor"""		"""chromosome 7 open reading frame 70"""	C7orf70			Standard	NM_001037163		Approved	SIPAR, MGC12966	uc003spu.3	Q7Z4H9	OTTHUMG00000122091	ENST00000313324.4:c.692T>A	7.37:g.6370094A>T	ENSP00000317289:p.Leu231His						p.L231H	NM_001037163.1	NP_001032240.1	Q7Z4H9	SIPAR_HUMAN			2	1159	-			231					Q75ML2|Q8NA52|Q9BRR7	Missense_Mutation	SNP	ENST00000313324.4	37	c.692T>A	CCDS34599.1	.	.	.	.	.	.	.	.	.	.	A	9.375	1.071529	0.20147	.	.	ENSG00000178397	ENST00000313324	T	0.39787	1.06	5.12	2.7	0.31948	.	0.397408	0.18177	U	0.149247	T	0.45696	0.1355	M	0.61703	1.905	0.50467	D	0.999877	P	0.49862	0.929	P	0.50570	0.644	T	0.37430	-0.9706	10	0.87932	D	0	-1.0905	5.6743	0.17739	0.7698:0.0:0.0809:0.1493	.	231	Q7Z4H9	SIPAR_HUMAN	H	231	ENSP00000317289:L231H	ENSP00000317289:L231H	L	-	2	0	C7orf70	6336619	1.000000	0.71417	0.001000	0.08648	0.126000	0.20510	2.937000	0.48979	0.274000	0.22072	0.533000	0.62120	CTT		0.408	FAM220A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000242853.2	NM_001037163		19	97	0	0	0	1	0	19	97				
AKAP3	10566	broad.mit.edu	37	12	4736094	4736094	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:4736094G>A	ENST00000545990.2	-	5	2498	c.1974C>T	c.(1972-1974)gtC>gtT	p.V658V	AKAP3_ENST00000228850.1_Silent_p.V658V|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	658					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CTATCTGGCTGACAGCCATCT	0.507																																						ENST00000545990.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						c.(1972-1974)gtC>gtT		A kinase (PRKA) anchor protein 3							62.0	52.0	56.0					12																	4736094		2203	4300	6503	SO:0001819	synonymous_variant	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4736094G>A	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1974C>T	12.37:g.4736094G>A						AKAP3_ENST00000228850.1_Silent_p.V658V	p.V658V	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN			5	2498	-			658					O75945|Q86X01|Q9UM61	Silent	SNP	ENST00000545990.2	37	c.1974C>T	CCDS8531.1																																																																																				0.507	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		5	63	0	0	0	1	0	5	63				
WDR53	348793	broad.mit.edu	37	3	196281250	196281250	+	Silent	SNP	G	G	A	rs149053894		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:196281250G>A	ENST00000332629.5	-	4	1476	c.909C>T	c.(907-909)aaC>aaT	p.N303N	WDR53_ENST00000433160.1_Silent_p.N144N|WDR53_ENST00000429115.1_Silent_p.N142N	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	303										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		TTACTGAAGCGTTAGTATTTC	0.398													g|||	1	0.000199681	0.0008	0.0	5008	,	,		18226	0.0		0.0	False		,,,				2504	0.0					ENST00000332629.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13						c.(907-909)aaC>aaT		WD repeat domain 53							290.0	252.0	265.0					3																	196281250		2203	4300	6503	SO:0001819	synonymous_variant	348793							g.chr3:196281250G>A	BC054030	CCDS3318.1	3q29	2013-01-09			ENSG00000185798	ENSG00000185798		"""WD repeat domain containing"""	28786	protein-coding gene	gene with protein product		615110				12477932	Standard	NM_182627		Approved	MGC64882, MGC12928	uc003fwt.3	Q7Z5U6	OTTHUMG00000155572	ENST00000332629.5:c.909C>T	3.37:g.196281250G>A						WDR53_ENST00000429115.1_Silent_p.N142N|WDR53_ENST00000433160.1_Silent_p.N144N	p.N303N	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	4	1476	-	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		303					A0MNP1	Silent	SNP	ENST00000332629.5	37	c.909C>T	CCDS3318.1																																																																																				0.398	WDR53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340689.1	NM_182627		14	124	0	0	0	1	0	14	124				
PRSS3P2	154754	broad.mit.edu	37	7	142482369	142482369	+	RNA	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:142482369C>T	ENST00000603901.1	+	0	749					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										AGCTAAAGCCCCTGGTCACTC	0.502																																						ENST00000603901.1																			0																																																			154754							g.chr7:142482369C>T			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482369C>T								NR_001296.3						0	749	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.502	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		6	73	0	0	0	1	0	6	73				
OOSP2	219990	broad.mit.edu	37	11	59812145	59812145	+	Splice_Site	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:59812145T>A	ENST00000278855.2	+	3	430	c.245T>A	c.(244-246)gTa>gAa	p.V82E	PLAC1L_ENST00000532905.1_Splice_Site_p.V51E	NM_173801.3	NP_776162.2	Q86WS3	OOSP2_HUMAN		82						extracellular region (GO:0005576)				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						CTCTCCTAGGTAGTTTCTGAG	0.388																																						ENST00000278855.2																			0				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						c.e3-1									93.0	84.0	87.0					11																	59812145		2201	4295	6496	SO:0001630	splice_region_variant	219990					extracellular region		g.chr11:59812145T>A																												ENST00000278855.2:c.244-1T>A	11.37:g.59812145T>A						PLAC1L_ENST00000532905.1_Splice_Site_p.V51_splice	p.V82_splice	NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN			3	430	+			82					E9PJA4|Q8N9U6	Splice_Site	SNP	ENST00000278855.2	37	c.243_splice	CCDS7979.1	.	.	.	.	.	.	.	.	.	.	T	13.08	2.131722	0.37630	.	.	ENSG00000149507	ENST00000278855;ENST00000532905	T;T	0.81415	-1.49;-1.49	2.39	2.39	0.29439	.	.	.	.	.	D	0.83092	0.5179	L	0.53249	1.67	0.09310	N	1	D	0.69078	0.997	P	0.61658	0.892	T	0.70204	-0.4936	9	0.54805	T	0.06	-8.7289	6.7039	0.23240	0.0:0.0:0.0:1.0	.	82	Q86WS3	PLACL_HUMAN	E	82;51	ENSP00000278855:V82E;ENSP00000433831:V51E	ENSP00000278855:V82E	V	+	2	0	PLAC1L	59568721	0.696000	0.27757	0.055000	0.19348	0.040000	0.13550	0.637000	0.24659	1.347000	0.45714	0.460000	0.39030	GTA		0.388	PLAC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394411.1		Missense_Mutation	11	34	0	0	0	1	0	11	34				
ERV3-1	2086	broad.mit.edu	37	7	64452994	64452994	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:64452994G>C	ENST00000394323.2	-	2	911	c.411C>G	c.(409-411)ttC>ttG	p.F137L	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	137						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						ccatggaactgaagattacgg	0.448																																						ENST00000394323.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						c.(409-411)ttC>ttG									55.0	54.0	54.0					7																	64452994		1888	4111	5999	SO:0001583	missense	2086					virion		g.chr7:64452994G>C	AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"""endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)"", ""endogenous retroviral sequence 3"""	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.411C>G	7.37:g.64452994G>C	ENSP00000391594:p.Phe137Leu						p.F137L	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN			2	911	-			137						Missense_Mutation	SNP	ENST00000394323.2	37	c.411C>G	CCDS47595.1	.	.	.	.	.	.	.	.	.	.	.	6.936	0.542435	0.13250	.	.	ENSG00000213462	ENST00000394323	T	0.11277	2.79	0.109	0.109	0.14578	.	.	.	.	.	T	0.04679	0.0127	N	0.08118	0	0.09310	N	0.999998	B	0.14438	0.01	B	0.11329	0.006	T	0.44952	-0.9294	8	0.22706	T	0.39	.	.	.	.	.	137	Q14264	ENR1_HUMAN	L	137	ENSP00000391594:F137L	ENSP00000391594:F137L	F	-	3	2	ERV3-1	64090429	0.740000	0.28207	0.441000	0.26858	0.444000	0.32077	0.230000	0.17852	0.181000	0.19994	0.184000	0.17185	TTC		0.448	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381468.1	NM_001007253		5	35	0	0	0	1	0	5	35				
TP53	7157	broad.mit.edu	37	17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A	rs201744589		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:7577046C>A	ENST00000269305.4	-	8	1081	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E298*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	298	Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGGGGCAGCTCGTGGTGAGGC	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		67	Substitution - Nonsense(49)|Whole gene deletion(8)|Deletion - In frame(3)|Unknown(2)|Deletion - Frameshift(2)|Substitution - Missense(2)|Insertion - Frameshift(1)	p.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)	lung(21)|upper_aerodigestive_tract(13)|breast(6)|bone(5)|haematopoietic_and_lymphoid_tissue(4)|urinary_tract(4)|central_nervous_system(2)|oesophagus(2)|ovary(2)|pancreas(2)|liver(2)|large_intestine(1)|stomach(1)|salivary_gland(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM031387	TP53	M		c.(892-894)Gag>Tag	Other conserved DNA damage response genes	tumor protein p53							110.0	96.0	101.0					17																	7577046		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577046C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.892G>T	17.37:g.7577046C>A	ENSP00000269305:p.Glu298*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Nonsense_Mutation_p.E298*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*	p.E298*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1024	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	298		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).	Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.892G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603544	0.66445	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	-4.03	0.04021	.	0.553557	0.18174	N	0.149346	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-12.8318	5.9489	0.19234	0.0:0.2155:0.4162:0.3682	.	.	.	.	X	298;298;298;298;298;287;166	.	ENSP00000269305:E298X	E	-	1	0	TP53	7517771	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.837000	0.04377	-0.441000	0.07201	-0.218000	0.12543	GAG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	49	1	0	9.31168e-06	1	1.13653e-05	13	49				
ANK2	287	broad.mit.edu	37	4	114277745	114277745	+	Missense_Mutation	SNP	C	C	A	rs146085234	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:114277745C>A	ENST00000357077.4	+	38	8024	c.7971C>A	c.(7969-7971)agC>agA	p.S2657R	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S2624R|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2657					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTTCGGAGAGCAGGAAGGTGT	0.483																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(7969-7971)agC>agA		ankyrin 2, neuronal							129.0	129.0	129.0					4																	114277745		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114277745C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.7971C>A	4.37:g.114277745C>A	ENSP00000349588:p.Ser2657Arg					ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S2624R	p.S2657R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	8024	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2624					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.7971C>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	9.940	1.217116	0.22373	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.69435	-0.38;-0.4	5.86	5.86	0.93980	.	0.509754	0.19230	N	0.119440	T	0.64294	0.2585	L	0.59436	1.845	0.80722	D	1	B;P	0.45474	0.437;0.859	B;B	0.43274	0.157;0.414	T	0.63985	-0.6513	9	.	.	.	.	11.1561	0.48489	0.0:0.8894:0.0:0.1106	.	2624;2657	Q01484;Q01484-4	ANK2_HUMAN;.	R	2657;2624	ENSP00000349588:S2657R;ENSP00000264366:S2624R	.	S	+	3	2	ANK2	114497194	0.998000	0.40836	0.997000	0.53966	0.044000	0.14063	0.725000	0.25970	2.770000	0.95276	0.655000	0.94253	AGC		0.483	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		14	68	1	0	1.5842e-08	1	2.14052e-08	14	68				
ITGA4	3676	broad.mit.edu	37	2	182374391	182374391	+	Missense_Mutation	SNP	G	G	A	rs201930987	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:182374391G>A	ENST00000397033.2	+	16	2132	c.1702G>A	c.(1702-1704)Gtg>Atg	p.V568M		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	568					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TTAGAAAGATGTGCGGGACAT	0.403													G|||	2	0.000399361	0.0	0.0014	5008	,	,		14092	0.0		0.001	False		,,,				2504	0.0					ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1702-1704)Gtg>Atg		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)	G	MET/VAL	0,3720		0,0,1860	121.0	106.0	111.0		1702	5.9	1.0	2		111	1,8205		0,1,4102	no	missense	ITGA4	NM_000885.4	21	0,1,5962	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging	568/1033	182374391	1,11925	1860	4103	5963	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182374391G>A		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1702G>A	2.37:g.182374391G>A	ENSP00000380227:p.Val568Met						p.V568M	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		16	2132	+			568					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.1702G>A	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745581	0.69418	0.0	1.22E-4	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.53640	0.61;0.61	5.91	5.91	0.95273	Integrin alpha-2 (1);	0.114371	0.64402	D	0.000013	T	0.66458	0.2791	M	0.71036	2.16	0.48511	D	0.999661	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.65516	-0.6149	10	0.46703	T	0.11	.	13.4924	0.61405	0.071:0.0:0.929:0.0	.	390;568	Q59H74;P13612	.;ITA4_HUMAN	M	568	ENSP00000380227:V568M;ENSP00000233573:V568M	ENSP00000233573:V568M	V	+	1	0	ITGA4	182082636	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	5.489000	0.66875	2.799000	0.96334	0.650000	0.86243	GTG		0.403	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			7	80	0	0	0	1	0	7	80				
ZNF536	9745	broad.mit.edu	37	19	30936587	30936587	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:30936587G>C	ENST00000355537.3	+	2	2265	c.2118G>C	c.(2116-2118)caG>caC	p.Q706H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	706					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCTCTCCCAGACCGGGAGTG	0.682																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(2116-2118)caG>caC		zinc finger protein 536							17.0	20.0	19.0					19																	30936587		2178	4244	6422	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936587G>C		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2118G>C	19.37:g.30936587G>C	ENSP00000347730:p.Gln706His						p.Q706H	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	2265	+	Esophageal squamous(110;0.0834)		706					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2118G>C	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592651	0.66219	.	.	ENSG00000198597	ENST00000355537	T	0.09817	2.94	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	N	0.24115	0.695	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	D;D	0.79784	0.993;0.993	T	0.01630	-1.1308	10	0.62326	D	0.03	-38.2157	20.0119	0.97458	0.0:0.0:1.0:0.0	.	706;706	A7E228;O15090	.;ZN536_HUMAN	H	706	ENSP00000347730:Q706H	ENSP00000347730:Q706H	Q	+	3	2	ZNF536	35628427	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.320000	0.72876	2.706000	0.92434	0.655000	0.94253	CAG		0.682	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		6	32	0	0	0	1	0	6	32				
EFNB2	1948	broad.mit.edu	37	13	107145691	107145691	+	Silent	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:107145691T>C	ENST00000245323.4	-	5	848	c.699A>G	c.(697-699)tcA>tcG	p.S233S		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	233					anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					tgatgCATCCTGAAGCAATCC	0.567																																						ENST00000245323.4																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13						c.(697-699)tcA>tcG		ephrin-B2							144.0	111.0	122.0					13																	107145691		2203	4300	6503	SO:0001819	synonymous_variant	1948				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	g.chr13:107145691T>C	L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"""Ephrins"""	3227	protein-coding gene	gene with protein product	"""HTK ligand"", ""ligand of eph-related kinase 5"", ""eph-related receptor tyrosine kinase ligand 5"""	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.699A>G	13.37:g.107145691T>C							p.S233S	NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN			5	848	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		233					Q5JV56	Silent	SNP	ENST00000245323.4	37	c.699A>G	CCDS9507.1																																																																																				0.567	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	NM_004093		15	64	0	0	0	1	0	15	64				
NLRP5	126206	broad.mit.edu	37	19	56515259	56515259	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:56515259C>T	ENST00000390649.3	+	2	240	c.240C>T	c.(238-240)ttC>ttT	p.F80F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	80	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTCAGACATTCAAGGAATTAC	0.438																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(238-240)ttC>ttT		NLR family, pyrin domain containing 5							99.0	95.0	96.0					19																	56515259		1894	4126	6020	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56515259C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.240C>T	19.37:g.56515259C>T							p.F80F	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	2	240	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	80			DAPIN.		A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.240C>T	CCDS12938.1																																																																																				0.438	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		9	99	0	0	0	1	0	9	99				
EPB41L1	2036	broad.mit.edu	37	20	34810251	34810251	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr20:34810251G>T	ENST00000338074.2	+	21	2733	c.2572G>T	c.(2572-2574)Gta>Tta	p.V858L	EPB41L1_ENST00000373941.1_Missense_Mutation_p.V857L|EPB41L1_ENST00000373946.3_Missense_Mutation_p.V678L|EPB41L1_ENST00000441639.1_Missense_Mutation_p.V756L|EPB41L1_ENST00000202028.5_Missense_Mutation_p.V756L|EPB41L1_ENST00000373950.2_Missense_Mutation_p.V749L	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	858	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TGATATGCTGGTAACCAAAGC	0.522																																						ENST00000338074.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						c.(2572-2574)Gta>Tta		erythrocyte membrane protein band 4.1-like 1							132.0	123.0	126.0					20																	34810251		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34810251G>T	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.2572G>T	20.37:g.34810251G>T	ENSP00000337168:p.Val858Leu					EPB41L1_ENST00000373950.2_Missense_Mutation_p.V749L|EPB41L1_ENST00000373946.3_Missense_Mutation_p.V678L|EPB41L1_ENST00000373941.1_Missense_Mutation_p.V857L|EPB41L1_ENST00000202028.5_Missense_Mutation_p.V756L|EPB41L1_ENST00000441639.1_Missense_Mutation_p.V756L	p.V858L	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN			21	2733	+	Breast(12;0.0239)		858			Carboxyl-terminal (CTD).		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.2572G>T	CCDS13271.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.0|28.0	4.883417|4.883417	0.91740|0.91740	.|.	.|.	ENSG00000088367|ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941|ENST00000432603	D;D;D;D;D;D|.	0.83506|.	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73|.	4.61|4.61	4.61|4.61	0.57282|0.57282	Band 4.1, C-terminal (1);|.	.|.	.|.	.|.	.|.	T|T	0.75140|0.75140	0.3809|0.3809	M|M	0.75615|0.75615	2.305|2.305	0.58432|0.58432	D|D	0.999992|0.999992	D;D;D;D;D|.	0.76494|.	0.999;0.99;0.997;0.967;0.996|.	D;D;D;D;D|.	0.85130|.	0.997;0.971;0.993;0.97;0.99|.	T|T	0.76285|0.76285	-0.3015|-0.3015	9|5	0.87932|.	D|.	0|.	.|.	16.6051|16.6051	0.84826|0.84826	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	858;678;749;749;756|.	Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2|.	E41L1_HUMAN;.;.;.;.|.	L|C	756;749;749;756;678;858;857|95	ENSP00000202028:V756L;ENSP00000363061:V749L;ENSP00000399214:V756L;ENSP00000363057:V678L;ENSP00000337168:V858L;ENSP00000363052:V857L|.	ENSP00000202028:V756L|.	V|W	+|+	1|3	0|0	EPB41L1|EPB41L1	34273665|34273665	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.263000|9.263000	0.95617|0.95617	2.401000|2.401000	0.81631|0.81631	0.462000|0.462000	0.41574|0.41574	GTA|TGG		0.522	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		13	115	1	0	1.65356e-20	1	2.56938e-20	13	115				
PTPRD	5789	broad.mit.edu	37	9	8389292	8389292	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:8389292C>T	ENST00000381196.4	-	34	4869	c.4326G>A	c.(4324-4326)atG>atA	p.M1442I	PTPRD_ENST00000540109.1_Missense_Mutation_p.M1442I|PTPRD_ENST00000356435.5_Missense_Mutation_p.M1442I|PTPRD_ENST00000397606.3_Missense_Mutation_p.M1035I|PTPRD_ENST00000397611.3_Missense_Mutation_p.M1032I|PTPRD_ENST00000537002.1_Missense_Mutation_p.M1032I|PTPRD_ENST00000360074.4_Missense_Mutation_p.M1429I|PTPRD_ENST00000358503.5_Missense_Mutation_p.M1420I|PTPRD_ENST00000355233.5_Missense_Mutation_p.M1036I|PTPRD_ENST00000486161.1_Missense_Mutation_p.M1035I|PTPRD_ENST00000397617.3_Missense_Mutation_p.M1035I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1442	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTTCCCATATCATTCTCCAAA	0.393										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(4324-4326)atG>atA		protein tyrosine phosphatase, receptor type, D							182.0	175.0	177.0					9																	8389292		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8389292C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4326G>A	9.37:g.8389292C>T	ENSP00000370593:p.Met1442Ile	TSP Lung(15;0.13)				PTPRD_ENST00000397611.3_Missense_Mutation_p.M1032I|PTPRD_ENST00000397617.3_Missense_Mutation_p.M1035I|PTPRD_ENST00000540109.1_Missense_Mutation_p.M1442I|PTPRD_ENST00000360074.4_Missense_Mutation_p.M1429I|PTPRD_ENST00000537002.1_Missense_Mutation_p.M1032I|PTPRD_ENST00000358503.5_Missense_Mutation_p.M1420I|PTPRD_ENST00000486161.1_Missense_Mutation_p.M1035I|PTPRD_ENST00000356435.5_Missense_Mutation_p.M1442I|PTPRD_ENST00000355233.5_Missense_Mutation_p.M1036I|PTPRD_ENST00000397606.3_Missense_Mutation_p.M1035I	p.M1442I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	34	4869	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1442			Tyrosine-protein phosphatase 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.4326G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	35	5.464352	0.96257	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	5.83	5.83	0.93111	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	D	0.96999	0.9020	H	0.99368	4.535	0.80722	D	1	P;P;P;P;D;P;D;D;D	0.89917	0.777;0.777;0.777;0.777;1.0;0.736;1.0;0.986;1.0	P;P;P;P;D;P;D;D;D	0.91635	0.719;0.719;0.719;0.719;0.996;0.598;0.997;0.986;0.999	D	0.98300	1.0518	9	.	.	.	.	20.119	0.97953	0.0:1.0:0.0:0.0	.	1035;1026;1035;1036;1032;1032;1429;1442;1442	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	I	1442;1442;1429;1420;1036;1035;1032;1032;913;1442;1035;1035	ENSP00000370593:M1442I;ENSP00000348812:M1442I;ENSP00000353187:M1429I;ENSP00000351293:M1420I;ENSP00000347373:M1036I;ENSP00000380741:M1035I;ENSP00000380735:M1032I;ENSP00000440515:M1032I;ENSP00000438164:M1442I;ENSP00000417093:M1035I;ENSP00000380731:M1035I	.	M	-	3	0	PTPRD	8379292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.763000	0.94921	0.555000	0.69702	ATG		0.393	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			35	122	0	0	0	1	0	35	122				
FAM9A	171482	broad.mit.edu	37	X	8764377	8764377	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:8764377T>C	ENST00000543214.1	-	6	555	c.420A>G	c.(418-420)atA>atG	p.I140M	FAM9A_ENST00000381003.3_Missense_Mutation_p.I140M	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	140						nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				CTGCTTTATCTATTTTTATCA	0.303																																						ENST00000543214.1																			0				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18						c.(418-420)atA>atG		family with sequence similarity 9, member A							153.0	117.0	129.0					X																	8764377		2203	4298	6501	SO:0001583	missense	171482					nucleolus		g.chrX:8764377T>C		CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"""testis expressed 39A"""	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.420A>G	X.37:g.8764377T>C	ENSP00000440163:p.Ile140Met					FAM9A_ENST00000381003.3_Missense_Mutation_p.I140M	p.I140M	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN			6	555	-		Hepatocellular(5;0.219)	140					B7ZLH5|Q2M2D1	Missense_Mutation	SNP	ENST00000543214.1	37	c.420A>G	CCDS14131.1	.	.	.	.	.	.	.	.	.	.	t	1.778	-0.482644	0.04383	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.678	-1.36	0.09085	.	.	.	.	.	T	0.10594	0.0259	N	0.02247	-0.625	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.32824	-0.9892	7	0.06365	T	0.9	.	.	.	.	.	140	Q8IZU1	FAM9A_HUMAN	M	140	.	ENSP00000370391:I140M	I	-	3	3	FAM9A	8724377	0.987000	0.35691	0.002000	0.10522	0.006000	0.05464	0.111000	0.15458	-0.265000	0.09352	-0.686000	0.03744	ATA		0.303	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	NM_174951		3	9	0	0	0	1	0	3	9				
KIAA0247	9766	broad.mit.edu	37	14	70175525	70175525	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:70175525A>G	ENST00000342745.4	+	5	903	c.590A>G	c.(589-591)cAg>cGg	p.Q197R		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	197						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		CCCAGAGTACAGATTGTGCTG	0.582																																						ENST00000342745.4																			0				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10						c.(589-591)cAg>cGg		KIAA0247							82.0	79.0	80.0					14																	70175525		2203	4300	6503	SO:0001583	missense	9766					integral to membrane		g.chr14:70175525A>G	D87434	CCDS9796.1	14q24.1	2012-11-29			ENSG00000100647	ENSG00000100647			19956	protein-coding gene	gene with protein product						9039502	Standard	NM_014734		Approved		uc001xlk.3	Q92537	OTTHUMG00000171234	ENST00000342745.4:c.590A>G	14.37:g.70175525A>G	ENSP00000344424:p.Gln197Arg						p.Q197R	NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN		all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)	5	903	+			197						Missense_Mutation	SNP	ENST00000342745.4	37	c.590A>G	CCDS9796.1	.	.	.	.	.	.	.	.	.	.	A	10.26	1.301893	0.23736	.	.	ENSG00000100647	ENST00000342745	T	0.69040	-0.37	5.4	2.98	0.34508	.	0.171113	0.53938	D	0.000055	T	0.57740	0.2074	M	0.64997	1.995	0.48288	D	0.999621	P	0.35192	0.489	B	0.32677	0.15	T	0.49872	-0.8893	10	0.32370	T	0.25	-3.9551	8.0272	0.30444	0.7924:0.1367:0.071:0.0	.	197	Q92537	K0247_HUMAN	R	197	ENSP00000344424:Q197R	ENSP00000344424:Q197R	Q	+	2	0	KIAA0247	69245278	1.000000	0.71417	0.946000	0.38457	0.352000	0.29268	3.862000	0.56009	0.327000	0.23409	0.460000	0.39030	CAG		0.582	KIAA0247-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412453.1	NM_014734		16	70	0	0	0	1	0	16	70				
C11orf30	56946	broad.mit.edu	37	11	76257309	76257309	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:76257309G>A	ENST00000529032.1	+	19	3742	c.3742G>A	c.(3742-3744)Gct>Act	p.A1248T	C11orf30_ENST00000524490.1_Missense_Mutation_p.A1150T|C11orf30_ENST00000533248.1_Missense_Mutation_p.A1157T|C11orf30_ENST00000525038.1_Missense_Mutation_p.A1249T|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000524767.1_Missense_Mutation_p.A1263T|C11orf30_ENST00000334736.3_Missense_Mutation_p.A1248T|C11orf30_ENST00000525919.1_Missense_Mutation_p.A1249T			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1248					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CCAAAAGAAAGCTGAAGAGAG	0.438																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(3742-3744)Gct>Act		chromosome 11 open reading frame 30							62.0	64.0	63.0					11																	76257309		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76257309G>A	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3742G>A	11.37:g.76257309G>A	ENSP00000432327:p.Ala1248Thr					C11orf30_ENST00000533248.1_Missense_Mutation_p.A1157T|C11orf30_ENST00000525038.1_Missense_Mutation_p.A1249T|C11orf30_ENST00000524490.1_Missense_Mutation_p.A1150T|C11orf30_ENST00000524767.1_Missense_Mutation_p.A1263T|C11orf30_ENST00000525919.1_Missense_Mutation_p.A1249T|C11orf30_ENST00000334736.3_Missense_Mutation_p.A1248T|C11orf30_ENST00000343878.3_Intron	p.A1248T			Q7Z589	EMSY_HUMAN			19	3742	+			1248					B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.3742G>A	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369417	0.42003	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	6.06	5.15	0.70609	.	0.266258	0.39985	N	0.001211	T	0.47116	0.1428	N	0.08118	0	0.80722	D	1	D;B;B;B;B;B	0.58268	0.982;0.02;0.02;0.0;0.02;0.0	D;B;B;B;B;B	0.65140	0.932;0.006;0.006;0.0;0.006;0.0	T	0.42799	-0.9430	9	0.17369	T	0.5	-5.6519	11.1967	0.48717	0.1387:0.0:0.8613:0.0	.	1157;1249;1263;1249;1150;1248	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	T	1150;1248;930;1263;1157;1249;1249;1248	.	ENSP00000334130:A1248T	A	+	1	0	C11orf30	75934957	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.223000	0.42936	1.578000	0.49821	0.650000	0.86243	GCT		0.438	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		14	91	0	0	0	1	0	14	91				
VPS13D	55187	broad.mit.edu	37	1	12557595	12557595	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:12557595G>T	ENST00000358136.3	+	68	12834	c.12704G>T	c.(12703-12705)gGg>gTg	p.G4235V	VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000543766.1_Missense_Mutation_p.G233V|VPS13D_ENST00000356315.4_Missense_Mutation_p.G4210V|VPS13D_ENST00000543710.1_Missense_Mutation_p.G39V|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGCTGCACGGGGCCCCAGGGG	0.502																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(12703-12705)gGg>gTg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							69.0	69.0	69.0					1																	12557595		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12557595G>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.12704G>T	1.37:g.12557595G>T	ENSP00000350854:p.Gly4235Val					VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000543766.1_Missense_Mutation_p.G233V|VPS13D_ENST00000356315.4_Missense_Mutation_p.G4210V|VPS13D_ENST00000543710.1_Missense_Mutation_p.G39V|VPS13D_ENST00000471923.1_5'UTR	p.G4235V	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	68	12834	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	4234						Missense_Mutation	SNP	ENST00000358136.3	37	c.12704G>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.7|29.7	5.031780|5.031780	0.93575|0.93575	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136;ENST00000543766;ENST00000543710	T|T;T;T	0.00737|0.00695	5.76|5.83;5.83;5.83	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.043687|0.043687	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.04543|0.04543	0.0124|0.0124	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.62365	.|0.975;0.973;0.991	.|P;P;P	.|0.61800	.|0.853;0.888;0.894	T|T	0.15780|0.15780	-1.0425|-1.0425	8|10	0.87932|0.62326	D|D	0|0.03	.|.	19.545|19.545	0.95291|0.95291	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|233;4210;4234	.|F5GX56;Q5THJ4-2;Q5THJ4	.|.;.;VP13D_HUMAN	C|V	3057|4210;4235;233;39	ENSP00000011700:G3057C|ENSP00000348666:G4210V;ENSP00000350854:G4235V;ENSP00000441122:G233V	ENSP00000011700:G3057C|ENSP00000348666:G4210V	G|G	+|+	1|2	0|0	VPS13D|VPS13D	12480182|12480182	1.000000|1.000000	0.71417|0.71417	0.544000|0.544000	0.28141|0.28141	0.882000|0.882000	0.50991|0.50991	7.346000|7.346000	0.79347|0.79347	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GGC|GGG		0.502	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		8	43	1	0	4.68919e-08	1	6.23169e-08	8	43				
OR6B1	135946	broad.mit.edu	37	7	143701371	143701371	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:143701371C>A	ENST00000408922.2	+	1	350	c.282C>A	c.(280-282)ttC>ttA	p.F94L		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GCATCTCTTTCACACTCTGTA	0.478																																						ENST00000408922.2																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27						c.(280-282)ttC>ttA		olfactory receptor, family 6, subfamily B, member 1							165.0	165.0	165.0					7																	143701371		2115	4269	6384	SO:0001583	missense	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701371C>A		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.282C>A	7.37:g.143701371C>A	ENSP00000386151:p.Phe94Leu						p.F94L	NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN			1	350	+	Melanoma(164;0.0783)		94					A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	37	c.282C>A	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228069	0.39399	.	.	ENSG00000221813	ENST00000408922	T	0.00327	8.09	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38492	U	0.001672	T	0.00356	0.0011	L	0.58302	1.8	0.24048	N	0.99606	B	0.09022	0.002	B	0.18561	0.022	T	0.50866	-0.8777	10	0.62326	D	0.03	.	16.1202	0.81346	0.0:1.0:0.0:0.0	.	94	O95007	OR6B1_HUMAN	L	94	ENSP00000386151:F94L	ENSP00000386151:F94L	F	+	3	2	OR6B1	143332304	0.000000	0.05858	0.998000	0.56505	0.861000	0.49209	-0.448000	0.06820	2.666000	0.90696	0.557000	0.71058	TTC		0.478	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			10	168	1	0	3.86212e-05	1	4.52916e-05	10	168				
ZNF121	7675	broad.mit.edu	37	19	9677154	9677154	+	Missense_Mutation	SNP	C	C	A	rs142823332		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:9677154C>A	ENST00000586602.1	-	6	1051	c.635G>T	c.(634-636)cGc>cTc	p.R212L	ZNF121_ENST00000320451.6_Missense_Mutation_p.R212L			P58317	ZN121_HUMAN	zinc finger protein 121	212				R -> C (in Ref. 2; M99593). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						AAGGCCTGAGCGCCCAGCGAA	0.408																																						ENST00000586602.1																			0				breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						c.(634-636)cGc>cTc		zinc finger protein 121							47.0	48.0	48.0					19																	9677154		2203	4300	6503	SO:0001583	missense	7675				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9677154C>A	M99593	CCDS32902.1	19p13.2	2013-01-08	2006-08-22			ENSG00000197961		"""Zinc fingers, C2H2-type"""	12904	protein-coding gene	gene with protein product		194628	"""zinc finger protein 121 (clone ZHC32)"""	D19S204		8468057	Standard	NM_001008727		Approved	ZHC32, ZNF20	uc010xkp.1	P58317		ENST00000586602.1:c.635G>T	19.37:g.9677154C>A	ENSP00000468643:p.Arg212Leu					ZNF121_ENST00000320451.6_Missense_Mutation_p.R212L	p.R212L			P58317	ZN121_HUMAN			6	1051	-			212	R -> C (in Ref. 2; M99593).					Missense_Mutation	SNP	ENST00000586602.1	37	c.635G>T		.	.	.	.	.	.	.	.	.	.	C	3.289	-0.145349	0.06627	.	.	ENSG00000197961	ENST00000538300;ENST00000320451	T	0.08282	3.11	1.27	-2.53	0.06326	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04998	0.0134	N	0.26092	0.79	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.41034	-0.9531	9	0.30854	T	0.27	.	5.031	0.14409	0.0:0.4925:0.3272:0.1803	.	212	P58317	ZN121_HUMAN	L	212	ENSP00000326967:R212L	ENSP00000326967:R212L	R	-	2	0	ZNF121	9538154	0.000000	0.05858	0.000000	0.03702	0.713000	0.41058	-3.312000	0.00516	-0.808000	0.04387	-0.350000	0.07774	CGC		0.408	ZNF121-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000449910.1	NM_001008727		16	62	1	0	1.52009e-12	1	2.2454e-12	16	62				
PDE1C	5137	broad.mit.edu	37	7	31855669	31855669	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:31855669G>C	ENST00000396191.1	-	15	2137	c.1682C>G	c.(1681-1683)tCt>tGt	p.S561C	PDE1C_ENST00000321453.7_Missense_Mutation_p.S561C|PDE1C_ENST00000396193.1_Missense_Mutation_p.S621C|PDE1C_ENST00000396182.2_Missense_Mutation_p.S561C|PDE1C_ENST00000396184.3_Missense_Mutation_p.S561C|PDE1C_ENST00000479980.1_5'UTR	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	561					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	AGCTTTGCCAGATGCGCCTTC	0.507																																						ENST00000396184.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(1681-1683)tCt>tGt		phosphodiesterase 1C, calmodulin-dependent 70kDa							222.0	221.0	221.0					7																	31855669		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31855669G>C	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1682C>G	7.37:g.31855669G>C	ENSP00000379494:p.Ser561Cys					PDE1C_ENST00000321453.7_Missense_Mutation_p.S561C|PDE1C_ENST00000396191.1_Missense_Mutation_p.S561C|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000396182.2_Missense_Mutation_p.S561C|PDE1C_ENST00000396193.1_Missense_Mutation_p.S621C	p.S561C	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		16	1886	-			561					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.1682C>G	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956295	0.34565	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.72835	-0.68;-0.69;-0.69;-0.67;-0.67	5.15	5.15	0.70609	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	2.229480	0.01947	N	0.042377	T	0.64182	0.2575	N	0.14661	0.345	0.09310	N	1	B;B;B	0.28512	0.115;0.07;0.214	B;B;B	0.34038	0.16;0.134;0.174	T	0.55451	-0.8139	10	0.66056	D	0.02	.	12.4341	0.55590	0.0:0.0:0.8322:0.1678	.	561;621;561	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	C	621;561;561;561;561	ENSP00000379496:S621C;ENSP00000379494:S561C;ENSP00000318105:S561C;ENSP00000379487:S561C;ENSP00000379485:S561C	ENSP00000318105:S561C	S	-	2	0	PDE1C	31822194	0.660000	0.27420	0.541000	0.28102	0.602000	0.36980	3.644000	0.54381	2.666000	0.90696	0.655000	0.94253	TCT		0.507	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			9	151	0	0	0	1	0	9	151				
SPANXN2	494119	broad.mit.edu	37	X	142795355	142795355	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:142795355G>T	ENST00000370498.1	-	2	1076	c.323C>A	c.(322-324)tCt>tAt	p.S108Y		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	108										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTGTGAAGATCCTTCAGA	0.527																																						ENST00000370498.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(322-324)tCt>tAt		SPANX family, member N2							138.0	130.0	132.0					X																	142795355		2202	4297	6499	SO:0001583	missense	494119							g.chrX:142795355G>T		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.323C>A	X.37:g.142795355G>T	ENSP00000359529:p.Ser108Tyr						p.S108Y	NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN			2	1076	-	Acute lymphoblastic leukemia(192;6.56e-05)		108					Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	c.323C>A	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	G	0.037	-1.300168	0.01364	.	.	ENSG00000203924	ENST00000370498	T	0.08634	3.07	0.595	-1.19	0.09585	.	.	.	.	.	T	0.08802	0.0218	L	0.53249	1.67	0.09310	N	1	D	0.54964	0.969	P	0.47162	0.54	T	0.28138	-1.0053	8	0.15066	T	0.55	.	.	.	.	.	108	Q5MJ10	SPXN2_HUMAN	Y	108	ENSP00000359529:S108Y	ENSP00000359529:S108Y	S	-	2	0	SPANXN2	142623021	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.696000	0.05104	-0.595000	0.05828	0.173000	0.16961	TCT		0.527	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		21	249	1	0	2.20474e-14	1	3.34855e-14	21	249				
PCDHGB2	56103	broad.mit.edu	37	5	140740025	140740025	+	Missense_Mutation	SNP	C	C	A	rs532873096		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140740025C>A	ENST00000522605.1	+	1	323	c.323C>A	c.(322-324)aCt>aAt	p.T108N	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	108	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATTTCGATACTGTCGCTGAA	0.383																																						ENST00000522605.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(322-324)aCt>aAt									77.0	78.0	78.0					5																	140740025		1847	4097	5944	SO:0001583	missense	56103							g.chr5:140740025C>A	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.323C>A	5.37:g.140740025C>A	ENSP00000429018:p.Thr108Asn					PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	p.T108N	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	323	+								Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.323C>A	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	14.09	2.430815	0.43122	.	.	ENSG00000253910	ENST00000522605	T	0.27720	1.65	5.23	4.11	0.48088	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.42675	0.1213	M	0.82517	2.595	0.09310	N	1	P;P	0.43607	0.812;0.627	P;B	0.44946	0.465;0.158	T	0.39663	-0.9603	9	0.87932	D	0	.	9.2789	0.37716	0.0:0.7876:0.0:0.2124	.	108;108	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	N	108	ENSP00000429018:T108N	ENSP00000429018:T108N	T	+	2	0	PCDHGB2	140720209	0.000000	0.05858	0.935000	0.37517	0.983000	0.72400	-0.433000	0.06948	0.981000	0.38548	0.563000	0.77884	ACT		0.383	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		18	77	1	0	2.35188e-11	1	3.41784e-11	18	77				
CPED1	79974	broad.mit.edu	37	7	120655770	120655770	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:120655770C>T	ENST00000310396.5	+	3	768	c.301C>T	c.(301-303)Ctc>Ttc	p.L101F	CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000450913.2_Missense_Mutation_p.L101F|CPED1_ENST00000340646.5_Missense_Mutation_p.L101F	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	101						endoplasmic reticulum (GO:0005783)											AAGGGCCATACTCTACAGGCC	0.428																																						ENST00000310396.5																			0											c.(301-303)Ctc>Ttc		cadherin-like and PC-esterase domain containing 1							74.0	64.0	67.0					7																	120655770		2203	4300	6503	SO:0001583	missense	79974							g.chr7:120655770C>T		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.301C>T	7.37:g.120655770C>T	ENSP00000309772:p.Leu101Phe					CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000340646.5_Missense_Mutation_p.L101F|CPED1_ENST00000450913.2_Missense_Mutation_p.L101F	p.L101F	NM_024913.4	NP_079189.4					3	768	+								A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.301C>T	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042922	0.55003	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000340646	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.84	5.84	0.93424	.	0.151122	0.46758	D	0.000280	T	0.68265	0.2982	M	0.70275	2.135	0.43263	D	0.995201	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.69953	-0.5005	10	0.72032	D	0.01	.	15.6394	0.76984	0.0:1.0:0.0:0.0	.	101;101	A4D0V7-2;A4D0V7	.;CG058_HUMAN	F	101	ENSP00000309772:L101F;ENSP00000398082:L101F;ENSP00000406122:L101F;ENSP00000345235:L101F	ENSP00000309772:L101F	L	+	1	0	C7orf58	120443006	0.856000	0.29760	0.958000	0.39756	0.099000	0.18886	1.722000	0.38042	2.751000	0.94390	0.591000	0.81541	CTC		0.428	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		9	28	0	0	0	1	0	9	28				
SNRNP200	23020	broad.mit.edu	37	2	96961275	96961275	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:96961275C>A	ENST00000323853.5	-	14	1870	c.1793G>T	c.(1792-1794)cGc>cTc	p.R598L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	598	Helicase ATP-binding 1. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						ACCACCCTTGCGGGTGATGAT	0.562																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(1792-1794)cGc>cTc		small nuclear ribonucleoprotein 200kDa (U5)							101.0	89.0	93.0					2																	96961275		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96961275C>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.1793G>T	2.37:g.96961275C>A	ENSP00000317123:p.Arg598Leu					SNRNP200_ENST00000349783.5_Intron	p.R598L	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			14	1870	-			598			Helicase ATP-binding 1.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.1793G>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395042	0.96009	.	.	ENSG00000144028	ENST00000323853;ENST00000540328	T	0.37915	1.17	5.62	5.62	0.85841	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.053234	0.85682	D	0.000000	T	0.73606	0.3608	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82424	-0.0464	10	0.87932	D	0	-10.1647	18.4309	0.90624	0.0:1.0:0.0:0.0	.	598	O75643	U520_HUMAN	L	598;273	ENSP00000317123:R598L	ENSP00000317123:R598L	R	-	2	0	SNRNP200	96325002	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.411000	0.80078	2.657000	0.90304	0.561000	0.74099	CGC		0.562	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		6	85	1	0	0.00116845	1	0.00129152	6	85				
C2CD3	26005	broad.mit.edu	37	11	73849780	73849780	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:73849780T>C	ENST00000334126.7	-	5	1166	c.940A>G	c.(940-942)Aag>Gag	p.K314E	C2CD3_ENST00000539061.1_Missense_Mutation_p.K314E|C2CD3_ENST00000313663.7_Missense_Mutation_p.K314E			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	314					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)					AGAAGATCCTTGGTAGGGAGG	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.(940-942)Aag>Gag		C2 calcium-dependent domain containing 3							121.0	113.0	115.0					11																	73849780		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73849780T>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.940A>G	11.37:g.73849780T>C	ENSP00000334379:p.Lys314Glu					C2CD3_ENST00000313663.7_Missense_Mutation_p.K314E|C2CD3_ENST00000539061.1_Missense_Mutation_p.K314E	p.K314E			Q4AC94	C2CD3_HUMAN			5	1166	-	Breast(11;4.16e-06)		314					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.940A>G		.	.	.	.	.	.	.	.	.	.	T	12.28	1.889285	0.33348	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	T;T	0.10668	2.85;2.87	5.77	5.77	0.91146	.	0.201290	0.44688	D	0.000435	T	0.32376	0.0827	M	0.74881	2.28	0.32626	N	0.522687	D;D	0.76494	0.999;0.999	D;D	0.81914	0.989;0.995	T	0.44817	-0.9303	10	0.46703	T	0.11	-7.3968	13.6139	0.62097	0.0:0.0:0.0:1.0	.	314;314	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	E	314	ENSP00000334379:K314E;ENSP00000323339:K314E	ENSP00000289350:K314E	K	-	1	0	C2CD3	73527428	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	4.660000	0.61511	2.204000	0.70986	0.533000	0.62120	AAG		0.418	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		11	172	0	0	0	1	0	11	172				
KRT82	3888	broad.mit.edu	37	12	52789977	52789977	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:52789977G>T	ENST00000257974.2	-	7	1185	c.1108C>A	c.(1108-1110)Cag>Aag	p.Q370K	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	370	Coil 2.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GCCTCGCCCTGCTGCTCTGCC	0.627																																						ENST00000257974.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1108-1110)Cag>Aag		keratin 82							39.0	34.0	36.0					12																	52789977		2203	4300	6503	SO:0001583	missense	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52789977G>T	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.1108C>A	12.37:g.52789977G>T	ENSP00000257974:p.Gln370Lys					RP3-416H24.4_ENST00000547174.1_RNA	p.Q370K	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	7	1185	-			370			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000257974.2	37	c.1108C>A	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643721	0.87859	.	.	ENSG00000161850	ENST00000257974	D	0.88431	-2.38	4.93	4.0	0.46444	Filament (1);	0.000000	0.46758	D	0.000272	D	0.88142	0.6357	M	0.62154	1.92	0.41365	D	0.987453	P	0.44946	0.846	B	0.43155	0.41	D	0.90226	0.4275	10	0.72032	D	0.01	.	14.756	0.69564	0.0:0.0:0.8552:0.1448	.	370	Q9NSB4	KRT82_HUMAN	K	370	ENSP00000257974:Q370K	ENSP00000257974:Q370K	Q	-	1	0	KRT82	51076244	0.999000	0.42202	1.000000	0.80357	0.708000	0.40852	4.372000	0.59530	2.566000	0.86566	0.561000	0.74099	CAG		0.627	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		4	34	1	0	2.56e-06	1	3.18718e-06	4	34				
A3GALT2	127550	broad.mit.edu	37	1	33778153	33778153	+	Missense_Mutation	SNP	G	G	A	rs72889865	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:33778153G>A	ENST00000442999.3	-	3	145	c.146C>T	c.(145-147)tCg>tTg	p.S49L	A3GALT2_ENST00000330379.5_5'Flank|RP11-415J8.3_ENST00000588828.1_RNA|RP11-415J8.3_ENST00000457957.2_RNA|RP11-415J8.3_ENST00000587696.1_RNA	NM_001080438.1	NP_001073907.1			alpha 1,3-galactosyltransferase 2														Myeloproliferative disorder(586;0.0393)				CATTGTGGCCGAAGGGCAGAC	0.632													G|||	21	0.00419329	0.0129	0.0029	5008	,	,		18545	0.0		0.002	False		,,,				2504	0.0					ENST00000442999.3																			0											c.(145-147)tCg>tTg		alpha 1,3-galactosyltransferase 2		G		34,3960		0,34,1963	83.0	88.0	87.0			-9.2	0.0	1	dbSNP_130	87	25,8331		0,25,4153	no	intergenic				0,59,6116	AA,AG,GG		0.2992,0.8513,0.4777			33778153	59,12291	1997	4178	6175	SO:0001583	missense	127550							g.chr1:33778153G>A		CCDS60080.1	1p35.1	2013-09-05	2013-03-11	2013-03-11	ENSG00000184389	ENSG00000184389		"""Glycosyltransferase family 6 domain containing"""	30005	protein-coding gene	gene with protein product	"""iGb3 synthase"", ""isoglobotriaosylceramide synthase"""		"""alpha 1,3-galactosyltransferase 2, pseudogene"""	A3GALT2P		10854427, 18630988	Standard	NM_001080438		Approved	IGBS3S	uc031plq.1		OTTHUMG00000004125	ENST00000442999.3:c.146C>T	1.37:g.33778153G>A	ENSP00000475261:p.Ser49Leu					RP11-415J8.3_ENST00000457957.2_RNA|RP11-415J8.3_ENST00000588828.1_RNA	p.S49L	NM_001080438.1	NP_001073907.1					3	145	-		Myeloproliferative disorder(586;0.0393)							Missense_Mutation	SNP	ENST00000442999.3	37	c.146C>T																																																																																					0.632	A3GALT2-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000011861.3	NM_001080438		6	105	0	0	0	1	0	6	105				
KYNU	8942	broad.mit.edu	37	2	143790809	143790809	+	Silent	SNP	G	G	A	rs371795994		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:143790809G>A	ENST00000264170.4	+	12	1218	c.960G>A	c.(958-960)ctG>ctA	p.L320L	KYNU_ENST00000409512.1_Silent_p.L320L	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TCTCAGAACTGCAGTTAATCC	0.368																																						ENST00000264170.4																			0				large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(958-960)ctG>ctA		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	G	,	1,4405	2.1+/-5.4	0,1,2202	237.0	235.0	236.0		960,960	-1.8	1.0	2		236	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	KYNU	NM_001199241.1,NM_003937.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	320/466,320/466	143790809	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143790809G>A	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.960G>A	2.37:g.143790809G>A						KYNU_ENST00000409512.1_Silent_p.L320L	p.L320L	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	12	1218	+			320						Silent	SNP	ENST00000264170.4	37	c.960G>A	CCDS2183.1																																																																																				0.368	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		23	142	0	0	0	1	0	23	142				
SEMA6D	80031	broad.mit.edu	37	15	48056433	48056433	+	Missense_Mutation	SNP	G	G	T	rs145073310		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:48056433G>T	ENST00000316364.5	+	11	1467	c.1028G>T	c.(1027-1029)cGg>cTg	p.R343L	SEMA6D_ENST00000558816.1_Missense_Mutation_p.R343L|SEMA6D_ENST00000389428.3_Missense_Mutation_p.R343L|SEMA6D_ENST00000537942.1_Missense_Mutation_p.R343L|SEMA6D_ENST00000536845.2_Missense_Mutation_p.R343L|SEMA6D_ENST00000355997.3_Missense_Mutation_p.R343L|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R343L|SEMA6D_ENST00000389425.3_Missense_Mutation_p.R343L|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R343L|SEMA6D_ENST00000354744.4_Missense_Mutation_p.R343L|SEMA6D_ENST00000358066.4_Missense_Mutation_p.R343L|SEMA6D_ENST00000558014.1_Missense_Mutation_p.R343L	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	343	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTCAAAGGACGGTTTAAGGAA	0.418																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(1027-1029)cGg>cTg		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							102.0	97.0	99.0					15																	48056433		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48056433G>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1028G>T	15.37:g.48056433G>T	ENSP00000324857:p.Arg343Leu					SEMA6D_ENST00000358066.4_Missense_Mutation_p.R343L|SEMA6D_ENST00000536845.2_Missense_Mutation_p.R343L|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R343L|SEMA6D_ENST00000389428.3_Missense_Mutation_p.R343L|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R343L|SEMA6D_ENST00000537942.1_Missense_Mutation_p.R343L|SEMA6D_ENST00000558014.1_Missense_Mutation_p.R343L|SEMA6D_ENST00000355997.3_Missense_Mutation_p.R343L|SEMA6D_ENST00000389425.3_Missense_Mutation_p.R343L|SEMA6D_ENST00000354744.4_Missense_Mutation_p.R343L|SEMA6D_ENST00000558816.1_Missense_Mutation_p.R343L	p.R343L	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	11	1467	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	343			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.1028G>T	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	35	5.568185	0.96540	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91	6.08	5.15	0.70609	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.46288	0.1385	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D	0.76494	0.983;0.972;0.983;0.999;0.994	P;P;P;D;P	0.74674	0.791;0.717;0.791;0.984;0.886	T	0.28996	-1.0026	10	0.62326	D	0.03	.	15.8101	0.78552	0.0659:0.0:0.9341:0.0	.	343;343;343;343;343	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	L	343	ENSP00000442040:R343L;ENSP00000446152:R343L;ENSP00000324857:R343L;ENSP00000374084:R343L;ENSP00000374083:R343L;ENSP00000346786:R343L;ENSP00000350770:R343L;ENSP00000374079:R343L;ENSP00000348276:R343L;ENSP00000374076:R343L	ENSP00000324857:R343L	R	+	2	0	SEMA6D	45843725	1.000000	0.71417	0.949000	0.38748	0.990000	0.78478	6.765000	0.74965	2.894000	0.99253	0.655000	0.94253	CGG		0.418	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		8	63	1	0	0.0477658	1	0.0489781	8	63				
GTF3C1	2975	broad.mit.edu	37	16	27514201	27514201	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:27514201C>G	ENST00000356183.4	-	11	1901	c.1886G>C	c.(1885-1887)cGc>cCc	p.R629P	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R629P	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	629					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTCGATTAAGCGAAGATTGGT	0.488																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(1885-1887)cGc>cCc		general transcription factor IIIC, polypeptide 1, alpha 220kDa							252.0	178.0	203.0					16																	27514201		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27514201C>G	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.1886G>C	16.37:g.27514201C>G	ENSP00000348510:p.Arg629Pro					GTF3C1_ENST00000561623.1_Missense_Mutation_p.R629P	p.R629P	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			11	1901	-			629					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.1886G>C	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315609	0.60524	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.27720	1.65	5.83	5.83	0.93111	.	0.059142	0.64402	D	0.000002	T	0.56455	0.1986	M	0.61703	1.905	0.46396	D	0.999024	D;D	0.89917	1.0;1.0	D;D	0.83275	0.985;0.996	T	0.55642	-0.8109	10	0.87932	D	0	-20.27	19.7288	0.96175	0.0:1.0:0.0:0.0	.	629;629	Q12789;Q12789-3	TF3C1_HUMAN;.	P	629;627	ENSP00000348510:R629P	ENSP00000348510:R629P	R	-	2	0	GTF3C1	27421702	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.199000	0.58426	2.769000	0.95229	0.655000	0.94253	CGC		0.488	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		3	16	0	0	0	1	0	3	16				
OR51T1	401665	broad.mit.edu	37	11	4903751	4903751	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:4903751C>A	ENST00000322049.1	+	1	622	c.622C>A	c.(622-624)Ctg>Atg	p.L208M	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Missense_Mutation_p.L235M|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCAGCTCTACCTGAATGGCAC	0.448																																						ENST00000380378.1																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(703-705)Ctg>Atg		olfactory receptor, family 51, subfamily T, member 1							129.0	119.0	122.0					11																	4903751		2201	4298	6499	SO:0001583	missense	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903751C>A	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.622C>A	11.37:g.4903751C>A	ENSP00000322679:p.Leu208Met					OR51T1_ENST00000322049.1_Missense_Mutation_p.L208M|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.L235M	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	703	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	208					Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37	c.703C>A		.	.	.	.	.	.	.	.	.	.	C	4.541	0.100367	0.08731	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.72942	-0.7;-0.7	4.99	1.8	0.24995	GPCR, rhodopsin-like superfamily (1);	0.882556	0.09314	N	0.819235	T	0.56978	0.2022	L	0.31664	0.95	0.09310	N	1	B	0.30068	0.267	B	0.30495	0.116	T	0.51949	-0.8640	10	0.66056	D	0.02	.	5.9584	0.19286	0.4548:0.4507:0.0:0.0945	.	208	Q8NGJ9	O51T1_HUMAN	M	235;208	ENSP00000369738:L235M;ENSP00000322679:L208M	ENSP00000322679:L208M	L	+	1	2	OR51T1	4860327	0.000000	0.05858	0.877000	0.34402	0.061000	0.15899	-0.606000	0.05654	0.629000	0.30376	0.484000	0.47621	CTG		0.448	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		7	93	1	0	0.00198382	1	0.00216905	7	93				
TRAF3IP3	80342	broad.mit.edu	37	1	209933598	209933598	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:209933598G>C	ENST00000367024.1	+	3	730	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.E72Q|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.E72Q|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.E72Q|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.E72Q			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	72						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GAGGAACCTGGAGCTAGAGGA	0.612																																						ENST00000367024.1																			0				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(214-216)Gag>Cag		TRAF3 interacting protein 3							37.0	41.0	40.0					1																	209933598		2203	4300	6503	SO:0001583	missense	80342					integral to membrane	protein binding	g.chr1:209933598G>C		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.214G>C	1.37:g.209933598G>C	ENSP00000355991:p.Glu72Gln					TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.E72Q|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.E72Q|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.E72Q|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.E72Q	p.E72Q			Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	3	730	+			72					A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	ENST00000367024.1	37	c.214G>C	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859950	0.51482	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000458110;ENST00000367026;ENST00000367024;ENST00000010338	T;T;T;T;T	0.49720	0.77;0.81;0.79;0.81;0.79	5.4	2.47	0.30058	.	0.562586	0.16893	N	0.195250	T	0.48804	0.1520	M	0.63428	1.95	0.24034	N	0.996108	P;P;P;P	0.52061	0.95;0.95;0.928;0.59	P;P;P;B	0.49887	0.571;0.625;0.572;0.354	T	0.35599	-0.9782	10	0.44086	T	0.13	-3.0369	6.2333	0.20747	0.1685:0.1503:0.6812:0.0	.	72;72;72;72	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	Q	72;72;55;72;72;72	ENSP00000383743:E72Q;ENSP00000355992:E72Q;ENSP00000355993:E72Q;ENSP00000355991:E72Q;ENSP00000010338:E72Q	ENSP00000010338:E72Q	E	+	1	0	TRAF3IP3	208000221	0.999000	0.42202	0.994000	0.49952	0.671000	0.39405	0.864000	0.27926	0.248000	0.21435	0.462000	0.41574	GAG		0.612	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			5	43	0	0	0	1	0	5	43				
TSN	7247	broad.mit.edu	37	2	122514814	122514814	+	Splice_Site	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:122514814A>C	ENST00000389682.3	+	2	313		c.e2-1		TSN_ENST00000498545.1_Intron|TSN_ENST00000409193.1_Splice_Site|TSN_ENST00000536142.1_Splice_Site	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin						DNA recombination (GO:0006310)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|sequence-specific DNA binding (GO:0043565)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				AATTCTCTCTAGGAAATCAGA	0.363																																						ENST00000389682.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12						c.e2-1		translin							59.0	64.0	63.0					2																	122514814		2203	4300	6503	SO:0001630	splice_region_variant	7247				DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding	g.chr2:122514814A>C	X78627	CCDS33284.1, CCDS58723.1	2q21.1	2008-05-23			ENSG00000211460	ENSG00000211460			12379	protein-coding gene	gene with protein product	"""recombination hotspot associated factor"""	600575				7947454, 9244443	Standard	NM_004622		Approved	TRSLN, BCLF-1, REHF-1	uc002tnl.3	Q15631	OTTHUMG00000153334	ENST00000389682.3:c.67-1A>C	2.37:g.122514814A>C						TSN_ENST00000409193.1_Splice_Site|TSN_ENST00000498545.1_Intron|TSN_ENST00000536142.1_Splice_Site		NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN			2	313	+		Ovarian(717;0.0563)|Prostate(154;0.116)						B7Z3X8|Q5U0K7	Splice_Site	SNP	ENST00000389682.3	37		CCDS33284.1	.	.	.	.	.	.	.	.	.	.	A	15.95	2.983095	0.53827	.	.	ENSG00000211460	ENST00000455432;ENST00000389682;ENST00000536142;ENST00000409193	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5283	0.56100	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TSN	122231284	1.000000	0.71417	0.999000	0.59377	0.804000	0.45430	6.806000	0.75195	1.642000	0.50584	0.378000	0.23410	.		0.363	TSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330767.1	NM_004622	Intron	7	56	0	0	0	1	0	7	56				
PLAG1	5324	broad.mit.edu	37	8	57079872	57079872	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:57079872C>G	ENST00000316981.3	-	5	912	c.433G>C	c.(433-435)Gca>Cca	p.A145P	PLAG1_ENST00000423799.2_Missense_Mutation_p.A63P|PLAG1_ENST00000429357.2_Missense_Mutation_p.A145P	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	145	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CCACTTGTTGCGGCATGCAAG	0.468			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																	ENST00000316981.3				Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	"""TCEA1, LIFR, CTNNB1, CHCHD7"""		salivary adenoma	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(433-435)Gca>Cca		pleiomorphic adenoma gene 1							124.0	93.0	103.0					8																	57079872		2203	4300	6503	SO:0001583	missense	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57079872C>G	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.433G>C	8.37:g.57079872C>G	ENSP00000325546:p.Ala145Pro					PLAG1_ENST00000429357.2_Missense_Mutation_p.A145P|PLAG1_ENST00000423799.2_Missense_Mutation_p.A63P	p.A145P	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		5	912	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	145			Decreased nuclear import with localization in the nucleus but also in the cytoplasm.		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	c.433G>C	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037568	0.75617	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.28069	1.63;3.36;1.63	5.55	5.55	0.83447	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.49167	0.1541	L	0.38531	1.155	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.48854	-0.8998	10	0.87932	D	0	-15.1365	19.5003	0.95091	0.0:1.0:0.0:0.0	.	145	Q6DJT9	PLAG1_HUMAN	P	145;63;145	ENSP00000325546:A145P;ENSP00000404067:A63P;ENSP00000416537:A145P	ENSP00000325546:A145P	A	-	1	0	PLAG1	57242426	1.000000	0.71417	0.349000	0.25694	0.948000	0.59901	7.818000	0.86416	2.594000	0.87642	0.585000	0.79938	GCA		0.468	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		4	47	0	0	0	1	0	4	47				
CDC42	998	broad.mit.edu	37	1	22418000	22418000	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:22418000T>G	ENST00000344548.3	+	7	817	c.566T>G	c.(565-567)gTg>gGg	p.V189G	CDC42_ENST00000400259.1_Missense_Mutation_p.V189G|CDC42_ENST00000421089.2_Missense_Mutation_p.V231G	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	189					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cellular protein localization (GO:0034613)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell-cell adhesion (GO:0090136)|epithelial-mesenchymal cell signaling (GO:0060684)|establishment of Golgi localization (GO:0051683)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|keratinization (GO:0031424)|keratinocyte development (GO:0003334)|macrophage differentiation (GO:0030225)|multicellular organism growth (GO:0035264)|muscle cell differentiation (GO:0042692)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of gene expression (GO:0010629)|negative regulation of protein complex assembly (GO:0031333)|neuron fate determination (GO:0048664)|nuclear migration (GO:0007097)|nucleus localization (GO:0051647)|organelle transport along microtubule (GO:0072384)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of JNK cascade (GO:0046330)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of synapse structural plasticity (GO:0051835)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of filopodium assembly (GO:0051489)|regulation of mitosis (GO:0007088)|regulation of protein catabolic process (GO:0042176)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein kinase activity (GO:0045859)|regulation of protein stability (GO:0031647)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|sprouting angiogenesis (GO:0002040)|submandibular salivary gland formation (GO:0060661)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	apical part of cell (GO:0045177)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|spindle midzone (GO:0051233)	apolipoprotein A-I receptor binding (GO:0034191)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		CGCAGGTGTGTGCTGCTATGA	0.418																																						ENST00000344548.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12						c.(565-567)gTg>gGg		cell division cycle 42							50.0	53.0	52.0					1																	22418000		2203	4300	6503	SO:0001583	missense	998				actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding	g.chr1:22418000T>G	BC018266	CCDS221.1, CCDS222.1	1p36.1	2013-01-17	2013-01-17		ENSG00000070831	ENSG00000070831			1736	protein-coding gene	gene with protein product	"""GTP binding protein, 25kDa"""	116952	"""cell division cycle 42 (GTP-binding protein, 25kD)"", ""cell division cycle 42 (GTP binding protein, 25kDa)"""			2124704, 2122236	Standard	NM_001039802		Approved	G25K, CDC42Hs	uc001bfr.3	P60953	OTTHUMG00000002753	ENST00000344548.3:c.566T>G	1.37:g.22418000T>G	ENSP00000341072:p.Val189Gly					CDC42_ENST00000421089.2_Missense_Mutation_p.V231G|CDC42_ENST00000400259.1_Missense_Mutation_p.V189G	p.V189G	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)	7	817	+		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)	189					P21181|P25763|Q7L8R5|Q9UDI2	Missense_Mutation	SNP	ENST00000344548.3	37	c.566T>G	CCDS221.1	.	.	.	.	.	.	.	.	.	.	t	10.52	1.372624	0.24857	.	.	ENSG00000070831	ENST00000400259;ENST00000344548;ENST00000421089	T;T;T	0.68331	-0.32;-0.32;0.1	5.22	5.22	0.72569	.	0.357056	0.32147	N	0.006514	T	0.61850	0.2380	M	0.66439	2.03	0.58432	D	0.999996	B;B;B;B	0.32620	0.378;0.08;0.378;0.031	B;B;B;B	0.31191	0.125;0.045;0.125;0.02	T	0.62353	-0.6872	10	0.38643	T	0.18	.	10.1542	0.42812	0.0:0.0:0.1676:0.8324	.	231;234;231;189	E7ETU3;B4E1U9;B4DMH5;P60953	.;.;.;CDC42_HUMAN	G	189;189;231	ENSP00000383118:V189G;ENSP00000341072:V189G;ENSP00000398592:V231G	ENSP00000341072:V189G	V	+	2	0	CDC42	22290587	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.660000	0.61511	1.978000	0.57642	0.374000	0.22700	GTG		0.418	CDC42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007787.1	NM_001791		14	55	0	0	0	1	0	14	55				
COL9A2	1298	broad.mit.edu	37	1	40768857	40768857	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:40768857C>T	ENST00000372748.3	-	29	1645	c.1549G>A	c.(1549-1551)Ggc>Agc	p.G517S	COL9A2_ENST00000466267.1_5'UTR	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	517	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GCATCCCGGCCCTGAAAGCAG	0.632																																						ENST00000372748.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.e29-1		collagen, type IX, alpha 2							31.0	27.0	28.0					1																	40768857		2203	4300	6503	SO:0001630	splice_region_variant	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40768857C>T	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.1549-1G>A	1.37:g.40768857C>T						COL9A2_ENST00000466267.1_5'UTR	p.G517_splice	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		29	1645	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	517			Triple-helical region 3 (COL3).		B2RMP9	Splice_Site	SNP	ENST00000372748.3	37	c.1548_splice	CCDS450.1	.	.	.	.	.	.	.	.	.	.	C	35	5.597789	0.96602	.	.	ENSG00000049089	ENST00000372748	D	0.97256	-4.31	5.4	5.4	0.78164	.	0.148393	0.64402	D	0.000011	D	0.98842	0.9609	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99694	1.1002	10	0.87932	D	0	.	16.6736	0.85273	0.0:1.0:0.0:0.0	.	517	Q14055	CO9A2_HUMAN	S	517	ENSP00000361834:G517S	ENSP00000361834:G517S	G	-	1	0	COL9A2	40541444	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.991000	0.56973	2.537000	0.85549	0.561000	0.74099	GGC		0.632	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852	Missense_Mutation	3	18	0	0	0	1	0	3	18				
AL133247.2	0	broad.mit.edu	37	2	31754488	31754488	+	RNA	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:31754488C>T	ENST00000435713.1	+	0	255				SRD5A2_ENST00000405650.1_RNA																							AATGATCTCACCGAGGAAATT	0.463																																						ENST00000405650.1																			0													steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	Azelaic Acid(DB00548)|Dutasteride(DB01126)						72.0	71.0	72.0					2																	31754488		1949	4150	6099			6716				androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity	g.chr2:31754488C>T																													2.37:g.31754488C>T						AL133247.2_ENST00000435713.1_RNA				P31213	S5A2_HUMAN			0	752	-	Acute lymphoblastic leukemia(172;0.155)								RNA	SNP	ENST00000435713.1	37																																																																																						0.463	AL133247.2-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000325125.1			4	25	0	0	0	1	0	4	25				
ZNF804A	91752	broad.mit.edu	37	2	185801872	185801872	+	Silent	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:185801872A>G	ENST00000302277.6	+	4	2343	c.1749A>G	c.(1747-1749)aaA>aaG	p.K583K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	583							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAAGGTTGAAAGAGACCCATG	0.299																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(1747-1749)aaA>aaG		zinc finger protein 804A							34.0	41.0	39.0					2																	185801872		2182	4281	6463	SO:0001819	synonymous_variant	91752					intracellular	zinc ion binding	g.chr2:185801872A>G	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1749A>G	2.37:g.185801872A>G							p.K583K	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	2343	+			583					A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	c.1749A>G	CCDS2291.1																																																																																				0.299	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		7	60	0	0	0	1	0	7	60				
ATP10A	57194	broad.mit.edu	37	15	25924662	25924662	+	Silent	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:25924662G>C	ENST00000356865.6	-	21	4437	c.4326C>G	c.(4324-4326)tcC>tcG	p.S1442S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1442					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCGACCAGGAGGAAATCCAGT	0.612																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(4324-4326)tcC>tcG		ATPase, class V, type 10A							49.0	48.0	48.0					15																	25924662		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25924662G>C	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.4326C>G	15.37:g.25924662G>C							p.S1442S	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	21	4437	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1442					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.4326C>G	CCDS32178.1																																																																																				0.612	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		10	41	0	0	0	1	0	10	41				
LMAN1L	79748	broad.mit.edu	37	15	75108779	75108779	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:75108779C>A	ENST00000309664.5	+	3	481	c.342C>A	c.(340-342)taC>taA	p.Y114*	LMAN1L_ENST00000379709.3_Nonsense_Mutation_p.Y114*	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	114	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCGTGTGGTACACCCGGGGCA	0.672																																						ENST00000309664.5																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(340-342)taC>taA		lectin, mannose-binding, 1 like							52.0	58.0	56.0					15																	75108779		2197	4296	6493	SO:0001587	stop_gained	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75108779C>A	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.342C>A	15.37:g.75108779C>A	ENSP00000310431:p.Tyr114*					LMAN1L_ENST00000379709.3_Nonsense_Mutation_p.Y114*	p.Y114*	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN			3	481	+			114			L-type lectin-like.		Q6UWN2	Nonsense_Mutation	SNP	ENST00000309664.5	37	c.342C>A	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.994454	0.35226	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	.	.	.	5.39	-1.61	0.08399	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.844	0.41015	0.0:0.4784:0.0:0.5216	.	.	.	.	X	114	.	ENSP00000310431:Y114X	Y	+	3	2	LMAN1L	72895832	0.882000	0.30256	0.896000	0.35187	0.058000	0.15608	0.016000	0.13377	-0.162000	0.10964	-0.347000	0.07816	TAC		0.672	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			11	79	1	0	5.50884e-06	1	6.76465e-06	11	79				
OR2M7	391196	broad.mit.edu	37	1	248486989	248486989	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:248486989G>T	ENST00000317965.2	-	1	910	c.882C>A	c.(880-882)aaC>aaA	p.N294K		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCACTTCCTTGTTGCGGAGGC	0.433																																						ENST00000317965.2																			0				breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42						c.(880-882)aaC>aaA		olfactory receptor, family 2, subfamily M, member 7							80.0	77.0	78.0					1																	248486989		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248486989G>T	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.882C>A	1.37:g.248486989G>T	ENSP00000324557:p.Asn294Lys						p.N294K	NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	910	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		294					B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.882C>A	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	G	7.446	0.641765	0.14451	.	.	ENSG00000177186	ENST00000317965	T	0.50001	0.76	1.55	0.562	0.17290	.	.	.	.	.	T	0.71617	0.3361	H	0.97806	4.08	0.20196	N	0.999923	D	0.62365	0.991	P	0.58721	0.844	T	0.60255	-0.7299	9	0.87932	D	0	.	5.0647	0.14576	0.4692:0.0:0.5308:0.0	.	294	Q8NG81	OR2M7_HUMAN	K	294	ENSP00000324557:N294K	ENSP00000324557:N294K	N	-	3	2	OR2M7	246553612	0.000000	0.05858	0.914000	0.36105	0.076000	0.17211	-0.818000	0.04467	0.850000	0.35239	0.194000	0.17425	AAC		0.433	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		17	71	1	0	2.23348e-06	1	2.78496e-06	17	71				
SETBP1	26040	broad.mit.edu	37	18	42281446	42281446	+	Silent	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:42281446G>C	ENST00000282030.5	+	2	431	c.135G>C	c.(133-135)ggG>ggC	p.G45G	SETBP1_ENST00000426838.4_Silent_p.G45G	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	45						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAGGACCTGGGAAGGGGATCC	0.627									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(133-135)ggG>ggC		SET binding protein 1							33.0	32.0	33.0					18																	42281446		2203	4299	6502	SO:0001819	synonymous_variant	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42281446G>C	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.135G>C	18.37:g.42281446G>C						SETBP1_ENST00000426838.4_Silent_p.G45G	p.G45G	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	2	431	+			45					A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	ENST00000282030.5	37	c.135G>C	CCDS11923.2																																																																																				0.627	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		4	42	0	0	0	1	0	4	42				
SLIT3	6586	broad.mit.edu	37	5	168127602	168127602	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:168127602T>A	ENST00000519560.1	-	27	3346	c.2927A>T	c.(2926-2928)cAc>cTc	p.H976L	SLIT3_ENST00000332966.8_Missense_Mutation_p.H983L|SLIT3_ENST00000404867.3_Missense_Mutation_p.H976L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	976	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCATCCTTGTGGCTGTCACT	0.522																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2926-2928)cAc>cTc		slit homolog 3 (Drosophila)							103.0	86.0	92.0					5																	168127602		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168127602T>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2927A>T	5.37:g.168127602T>A	ENSP00000430333:p.His976Leu					SLIT3_ENST00000404867.3_Missense_Mutation_p.H976L|SLIT3_ENST00000332966.8_Missense_Mutation_p.H983L	p.H976L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		27	3346	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	976			EGF-like 2.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.2927A>T	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	T	11.78	1.741488	0.30865	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.87334	-2.24;-2.24;-2.24	5.1	0.872	0.19113	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.442466	0.27455	N	0.019288	T	0.70596	0.3242	N	0.10972	0.075	0.34151	D	0.667485	B	0.02656	0.0	B	0.09377	0.004	T	0.62909	-0.6754	10	0.35671	T	0.21	.	6.9729	0.24658	0.2577:0.0:0.1343:0.608	.	976	O75094	SLIT3_HUMAN	L	976;983;976	ENSP00000430333:H976L;ENSP00000332164:H983L;ENSP00000384890:H976L	ENSP00000332164:H983L	H	-	2	0	SLIT3	168060180	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.496000	0.35638	0.225000	0.20959	0.533000	0.62120	CAC		0.522	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		6	17	0	0	0	1	0	6	17				
KRT3	3850	broad.mit.edu	37	12	53189270	53189270	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:53189270T>G	ENST00000417996.2	-	1	631	c.557A>C	c.(556-558)gAg>gCg	p.E186A	KRT3_ENST00000309505.3_Missense_Mutation_p.E186A	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	186	Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GGGGTCGATCTCCACATTGAG	0.547																																						ENST00000417996.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						c.(556-558)gAg>gCg		keratin 3							74.0	96.0	89.0					12																	53189270		2203	4300	6503	SO:0001583	missense	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53189270T>G		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.557A>C	12.37:g.53189270T>G	ENSP00000413479:p.Glu186Ala					KRT3_ENST00000309505.3_Missense_Mutation_p.E186A	p.E186A	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN			1	631	-			186			Head.		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	c.557A>C	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	t	15.49	2.849073	0.51270	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.85861	-2.04;-2.04	4.68	4.68	0.58851	.	0.000000	0.42294	D	0.000726	T	0.81791	0.4897	M	0.76328	2.33	0.30992	N	0.721307	P	0.47762	0.9	B	0.36335	0.222	D	0.84908	0.0846	10	0.66056	D	0.02	.	10.6021	0.45373	0.0:0.0:0.1613:0.8387	.	186	P12035	K2C3_HUMAN	A	186	ENSP00000413479:E186A;ENSP00000312206:E186A	ENSP00000312206:E186A	E	-	2	0	KRT3	51475537	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	4.187000	0.58344	1.872000	0.54250	0.528000	0.53228	GAG		0.547	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		15	45	0	0	0	1	0	15	45				
ACTRT2	140625	broad.mit.edu	37	1	2938651	2938651	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:2938651C>A	ENST00000378404.2	+	1	606	c.401C>A	c.(400-402)cCc>cAc	p.P134H		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	134						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TTCGGCGTGCCCGCTTTCTAC	0.632																																						ENST00000378404.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(400-402)cCc>cAc		actin-related protein T2							79.0	72.0	75.0					1																	2938651		2203	4300	6503	SO:0001583	missense	140625					cytoplasm|cytoskeleton		g.chr1:2938651C>A	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.401C>A	1.37:g.2938651C>A	ENSP00000367658:p.Pro134His						p.P134H	NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	606	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	134					B1AN52|Q8NHS6|Q8TDG1	Missense_Mutation	SNP	ENST00000378404.2	37	c.401C>A	CCDS45.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878786	0.51801	.	.	ENSG00000169717	ENST00000378404;ENST00000543312	D	0.98150	-4.75	4.85	4.85	0.62838	.	0.000000	0.56097	D	0.000033	D	0.98988	0.9655	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99651	1.0991	10	0.87932	D	0	.	16.5311	0.84359	0.0:1.0:0.0:0.0	.	134	Q8TDY3	ACTT2_HUMAN	H	134	ENSP00000367658:P134H	ENSP00000367658:P134H	P	+	2	0	ACTRT2	2928511	1.000000	0.71417	0.736000	0.30914	0.133000	0.20885	7.657000	0.83745	2.228000	0.72767	0.561000	0.74099	CCC		0.632	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		5	58	1	0	0.000602214	1	0.000673014	5	58				
TCP10L2	401285	broad.mit.edu	37	6	167585672	167585672	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:167585672G>T	ENST00000366832.2	+	2	171	c.40G>T	c.(40-42)Ggc>Tgc	p.G14C		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	14										endometrium(1)|kidney(2)|lung(3)	6						GCCCAAGGAGGGCACCCACCC	0.657																																						ENST00000366832.2																			0				endometrium(1)|kidney(2)|lung(3)	6						c.(40-42)Ggc>Tgc		t-complex 10-like 2							26.0	39.0	35.0					6																	167585672		692	1591	2283	SO:0001583	missense	401285							g.chr6:167585672G>T		CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"""t-complex 10-like 2 (mouse)"""				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.40G>T	6.37:g.167585672G>T	ENSP00000355797:p.Gly14Cys						p.G14C	NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN			2	171	+			14						Missense_Mutation	SNP	ENST00000366832.2	37	c.40G>T	CCDS47514.1	.	.	.	.	.	.	.	.	.	.	g	12.39	1.922444	0.33908	.	.	ENSG00000166984	ENST00000486697;ENST00000366832	T	0.20738	2.05	2.61	-1.19	0.09585	.	.	.	.	.	T	0.17408	0.0418	L	0.51422	1.61	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.06409	-1.0828	9	0.45353	T	0.12	.	5.6673	0.17702	0.5466:0.0:0.4534:0.0	.	14	B9ZVM9	TCP2L_HUMAN	C	14	ENSP00000355797:G14C	ENSP00000283507:G14C	G	+	1	0	TCP10L2	167505662	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	-0.060000	0.11712	-0.502000	0.06596	0.416000	0.27883	GGC		0.657	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		4	16	1	0	1	1	1	4	16				
MASP1	5648	broad.mit.edu	37	3	186974553	186974553	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:186974553T>C	ENST00000337774.5	-	5	1032	c.643A>G	c.(643-645)Acc>Gcc	p.T215A	MASP1_ENST00000392470.2_Missense_Mutation_p.T189A|MASP1_ENST00000392472.2_Missense_Mutation_p.T102A|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.T215A|MASP1_ENST00000296280.6_Missense_Mutation_p.T215A	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	215	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.|Interaction with FCN2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AGCTCGATGGTATACAGGCAT	0.512																																						ENST00000337774.5																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(643-645)Acc>Gcc		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							179.0	150.0	160.0					3																	186974553		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186974553T>C	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.643A>G	3.37:g.186974553T>C	ENSP00000336792:p.Thr215Ala					MASP1_ENST00000392472.2_Missense_Mutation_p.T102A|MASP1_ENST00000392470.2_Missense_Mutation_p.T189A|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Missense_Mutation_p.T215A|MASP1_ENST00000169293.6_Missense_Mutation_p.T215A	p.T215A	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	5	1032	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		215			CUB 2.|Interaction with FCN2.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.643A>G	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.211480	0.39102	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000392472;ENST00000541896;ENST00000169293;ENST00000392470	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.53	1.91	0.25777	CUB (5);	0.368488	0.27451	N	0.019309	T	0.21509	0.0518	L	0.48218	1.51	0.27355	N	0.956127	B;B;B;B;B	0.09022	0.0;0.001;0.001;0.001;0.002	B;B;B;B;B	0.11329	0.005;0.003;0.005;0.006;0.006	T	0.21895	-1.0232	10	0.21014	T	0.42	.	5.5457	0.17063	0.0:0.2293:0.1463:0.6244	.	189;215;102;215;215	F8W876;P48740-3;P48740-4;P48740-2;P48740	.;.;.;.;MASP1_HUMAN	A	215;215;102;102;215;189	ENSP00000336792:T215A;ENSP00000296280:T215A;ENSP00000376264:T102A;ENSP00000169293:T215A;ENSP00000376262:T189A	ENSP00000169293:T215A	T	-	1	0	MASP1	188457247	0.801000	0.28930	0.289000	0.24876	0.933000	0.57130	1.046000	0.30354	0.093000	0.17368	0.459000	0.35465	ACC		0.512	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		9	131	0	0	0	1	0	9	131				
CRB1	23418	broad.mit.edu	37	1	197326133	197326133	+	Silent	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:197326133T>C	ENST00000367400.3	+	5	1296	c.1161T>C	c.(1159-1161)ccT>ccC	p.P387P	CRB1_ENST00000367399.2_Silent_p.P275P|CRB1_ENST00000538660.1_Silent_p.P387P|CRB1_ENST00000535699.1_Silent_p.P318P|CRB1_ENST00000543483.1_Silent_p.P86P	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	387	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TCTGTCAGCCTGGATTCACAG	0.468																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(1159-1161)ccT>ccC		crumbs homolog 1 (Drosophila)							132.0	110.0	118.0					1																	197326133		2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197326133T>C		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1161T>C	1.37:g.197326133T>C						CRB1_ENST00000543483.1_Silent_p.P86P|CRB1_ENST00000535699.1_Silent_p.P318P|CRB1_ENST00000538660.1_Silent_p.P387P|CRB1_ENST00000367399.2_Silent_p.P275P	p.P387P	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			5	1296	+			387			EGF-like 9.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.1161T>C	CCDS1390.1																																																																																				0.468	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		20	50	0	0	0	1	0	20	50				
CD320	51293	broad.mit.edu	37	19	8367821	8367821	+	Silent	SNP	C	C	A	rs202203481		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:8367821C>A	ENST00000301458.5	-	4	610	c.546G>T	c.(544-546)ggG>ggT	p.G182G	CD320_ENST00000537716.2_Silent_p.G140G|CD320_ENST00000596246.1_5'Flank	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	182					cobalamin metabolic process (GO:0009235)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						TCACAGGGGGCCCCATGGTTG	0.602																																						ENST00000301458.5																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						c.(544-546)ggG>ggT		CD320 molecule							31.0	31.0	31.0					19																	8367821		2203	4300	6503	SO:0001819	synonymous_variant	51293				regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity	g.chr19:8367821C>A	AF161254	CCDS12198.1, CCDS54210.1	19p13.3-p13.2	2008-02-05	2006-03-28			ENSG00000167775		"""CD molecules"""	16692	protein-coding gene	gene with protein product	"""8D6 antigen"""	606475	"""CD320 antigen"""			10727470	Standard	NM_016579		Approved	8D6, 8D6A	uc002mjj.2	Q9NPF0		ENST00000301458.5:c.546G>T	19.37:g.8367821C>A						CD320_ENST00000537716.2_Silent_p.G140G	p.G182G	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN			4	610	-			182					B2RDS5|D6W668|F5H6D3|Q53HF7	Silent	SNP	ENST00000301458.5	37	c.546G>T	CCDS12198.1																																																																																				0.602	CD320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461366.1	NM_016579		4	42	1	0	0.00024832	1	0.000283794	4	42				
ZNF33A	7581	broad.mit.edu	37	10	38344913	38344913	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:38344913A>G	ENST00000458705.2	+	5	2016	c.1858A>G	c.(1858-1860)Aag>Gag	p.K620E	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.K627E|ZNF33A_ENST00000374618.3_Missense_Mutation_p.K621E|ZNF33A_ENST00000307441.9_Missense_Mutation_p.K620E			Q06730	ZN33A_HUMAN	zinc finger protein 33A	620					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CTTCTACCAGAAGTCACAACT	0.358																																						ENST00000374618.3																			0				cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						c.(1861-1863)Aag>Gag		zinc finger protein 33A							77.0	78.0	77.0					10																	38344913		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38344913A>G	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1858A>G	10.37:g.38344913A>G	ENSP00000387713:p.Lys620Glu					ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.K620E|ZNF33A_ENST00000432900.2_Missense_Mutation_p.K627E|ZNF33A_ENST00000458705.2_Missense_Mutation_p.K620E	p.K621E	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN			5	2039	+			620					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.1861A>G	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	A	11.15	1.555308	0.27739	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.00958	5.5;5.5;5.5;5.5	1.69	1.69	0.24217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35646	N	0.003071	T	0.02610	0.0079	L	0.53780	1.695	0.09310	N	1	D;D;D	0.76494	0.998;0.997;0.999	D;D;D	0.77004	0.989;0.976;0.938	T	0.45614	-0.9249	10	0.26408	T	0.33	.	7.0172	0.24895	1.0:0.0:0.0:0.0	.	627;620;621	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	E	621;627;620;620	ENSP00000363747:K621E;ENSP00000402467:K627E;ENSP00000387713:K620E;ENSP00000304268:K620E	ENSP00000304268:K620E	K	+	1	0	ZNF33A	38384919	0.000000	0.05858	0.902000	0.35471	0.592000	0.36648	1.265000	0.33027	0.750000	0.32877	0.260000	0.18958	AAG		0.358	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		5	62	0	0	0	1	0	5	62				
LIMS2	55679	broad.mit.edu	37	2	128396883	128396883	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:128396883G>A	ENST00000355119.4	-	10	1164	c.999C>T	c.(997-999)ccC>ccT	p.P333P	LIMS2_ENST00000410038.1_Silent_p.P181P|LIMS2_ENST00000494613.1_5'UTR|LIMS2_ENST00000409286.1_Silent_p.P181P|LIMS2_ENST00000409455.1_Silent_p.P328P|LIMS2_ENST00000410011.1_Silent_p.P328P|LIMS2_ENST00000545738.2_Silent_p.P355P|LIMS2_ENST00000409808.2_Silent_p.P328P|LIMS2_ENST00000324938.5_Silent_p.P357P|LIMS2_ENST00000409754.1_Silent_p.P181P|LIMS2_ENST00000409254.1_Silent_p.P181P	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	333					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CTGTGGCCTTGGGCTGGGCCT	0.632																																						ENST00000409455.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(982-984)ccC>ccT		LIM and senescent cell antigen-like domains 2							128.0	128.0	128.0					2																	128396883		2203	4300	6503	SO:0001819	synonymous_variant	55679				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	g.chr2:128396883G>A	AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.999C>T	2.37:g.128396883G>A						LIMS2_ENST00000409286.1_Silent_p.P181P|LIMS2_ENST00000494613.1_5'UTR|LIMS2_ENST00000409808.2_Silent_p.P328P|LIMS2_ENST00000409754.1_Silent_p.P181P|LIMS2_ENST00000410011.1_Silent_p.P328P|LIMS2_ENST00000355119.4_Silent_p.P333P|LIMS2_ENST00000545738.2_Silent_p.P355P|LIMS2_ENST00000410038.1_Silent_p.P181P|LIMS2_ENST00000409254.1_Silent_p.P181P|LIMS2_ENST00000324938.5_Silent_p.P357P	p.P328P			Q7Z4I7	LIMS2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0681)	10	1619	-	Colorectal(110;0.1)		333					A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Silent	SNP	ENST00000355119.4	37	c.984C>T	CCDS54395.1	.	.	.	.	.	.	.	.	.	.	g	10.28	1.306482	0.23736	.	.	ENSG00000072163	ENST00000426981	T	0.37584	1.19	4.92	4.92	0.64577	.	0.490911	0.18982	N	0.125860	T	0.50973	0.1647	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53063	-0.8491	7	0.72032	D	0.01	.	11.8218	0.52242	0.0846:0.0:0.9154:0.0	.	.	.	.	L	161	ENSP00000397253:P161L	ENSP00000397253:P161L	P	-	2	0	LIMS2	128113353	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	1.507000	0.35758	2.261000	0.74972	0.591000	0.81541	CCA		0.632	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331133.2	NM_017980		8	123	0	0	0	1	0	8	123				
MYCBP2	23077	broad.mit.edu	37	13	77792089	77792089	+	Silent	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:77792089T>C	ENST00000544440.2	-	21	2846	c.2829A>G	c.(2827-2829)ggA>ggG	p.G943G	MYCBP2_ENST00000357337.6_Silent_p.G943G|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Silent_p.G981G					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAGTGGGACATCCCCTAGGTT	0.383																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(2941-2943)ggA>ggG		MYC binding protein 2, E3 ubiquitin protein ligase							87.0	86.0	86.0					13																	77792089		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77792089T>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2829A>G	13.37:g.77792089T>C						MYCBP2_ENST00000357337.6_Silent_p.G943G|MYCBP2_ENST00000544440.2_Silent_p.G943G|MYCBP2_ENST00000360084.5_5'UTR	p.G981G	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	21	3209	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	943						Silent	SNP	ENST00000544440.2	37	c.2943A>G																																																																																					0.383	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		9	61	0	0	0	1	0	9	61				
ZNF804B	219578	broad.mit.edu	37	7	88963800	88963800	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:88963800G>T	ENST00000333190.4	+	4	2113	c.1504G>T	c.(1504-1506)Ggt>Tgt	p.G502C		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	502							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AACAGAATTGGGTAAGAAGCC	0.383										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(1504-1506)Ggt>Tgt		zinc finger protein 804B							40.0	42.0	42.0					7																	88963800		2202	4300	6502	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963800G>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1504G>T	7.37:g.88963800G>T	ENSP00000329638:p.Gly502Cys	HNSCC(36;0.09)					p.G502C	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	2113	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		502					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.1504G>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	2.793	-0.250977	0.05867	.	.	ENSG00000182348	ENST00000333190	T	0.04551	3.6	5.49	-3.85	0.04243	.	1.216610	0.05509	N	0.559923	T	0.02342	0.0072	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44967	-0.9293	10	0.42905	T	0.14	1.8216	0.799	0.01072	0.4051:0.1647:0.2219:0.2083	.	502	A4D1E1	Z804B_HUMAN	C	502	ENSP00000329638:G502C	ENSP00000329638:G502C	G	+	1	0	ZNF804B	88801736	0.000000	0.05858	0.000000	0.03702	0.246000	0.25737	-0.024000	0.12435	-0.792000	0.04480	-0.808000	0.03180	GGT		0.383	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		8	57	1	0	1.26484e-09	1	1.77122e-09	8	57				
MIR520D	574482	broad.mit.edu	37	19	54224374	54224374	+	RNA	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:54224374C>G	ENST00000385002.1	+	0	87				MIR520G_ENST00000385064.1_RNA|MIR517B_ENST00000385102.1_RNA|RNU6-803P_ENST00000516034.1_RNA	NR_030204.1				microRNA 520d																		AAGAAAAGATCGTGCATCCCT	0.408																																						ENST00000385102.1																			0																				230.0	202.0	211.0					19																	54224374		1568	3582	5150			574483							g.chr19:54224374C>G			19q13.42	2011-09-12		2008-12-18	ENSG00000207735	ENSG00000207735		"""ncRNAs / Micro RNAs"""	32114	non-coding RNA	RNA, micro				MIRN520D			Standard	NR_030204		Approved	hsa-mir-520d	uc021vah.1				19.37:g.54224374C>G								NR_030205.1						0	45	+									RNA	SNP	ENST00000385002.1	37																																																																																						0.408	MIR520D-201	KNOWN	basic	miRNA	miRNA		NR_030204		31	108	0	0	0	1	0	31	108				
LOC645752	645752	broad.mit.edu	37	15	78217284	78217284	+	lincRNA	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:78217284A>T	ENST00000565869.1	+	0	706				RP11-114H24.2_ENST00000567226.1_RNA																							TCACATCCCCAGGTGAGTGGC	0.532																																						ENST00000567226.1																			0																																																			645752							g.chr15:78217284A>T																													15.37:g.78217284A>T														0	218	-									RNA	SNP	ENST00000565869.1	37																																																																																						0.532	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	36	0	0	0	1	0	4	36				
PLEK	5341	broad.mit.edu	37	2	68613677	68613677	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:68613677G>T	ENST00000234313.7	+	5	695	c.516G>T	c.(514-516)agG>agT	p.R172S		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	172	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGTCTGTTAGGAATCGCCAGG	0.522																																						ENST00000234313.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24						c.(514-516)agG>agT		pleckstrin							127.0	112.0	117.0					2																	68613677		2203	4300	6503	SO:0001583	missense	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68613677G>T	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.516G>T	2.37:g.68613677G>T	ENSP00000234313:p.Arg172Ser						p.R172S	NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	5	695	+		Ovarian(717;0.0129)	172			DEP.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	c.516G>T	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889122	0.52014	.	.	ENSG00000115956	ENST00000234313	T	0.21191	2.02	5.38	4.47	0.54385	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.23611	0.0571	L	0.55990	1.75	0.58432	D	0.999998	P;P	0.45126	0.851;0.851	P;P	0.52514	0.701;0.701	T	0.17961	-1.0352	10	0.08599	T	0.76	.	4.3009	0.10923	0.185:0.0:0.6188:0.1962	.	190;172	Q59GZ2;P08567	.;PLEK_HUMAN	S	172	ENSP00000234313:R172S	ENSP00000234313:R172S	R	+	3	2	PLEK	68467181	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.410000	0.44592	2.517000	0.84864	0.655000	0.94253	AGG		0.522	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		12	36	1	0	2.68362e-12	1	3.94248e-12	12	36				
GALNT15	117248	broad.mit.edu	37	3	16260957	16260957	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:16260957G>T	ENST00000339732.5	+	7	1943	c.1440G>T	c.(1438-1440)ctG>ctT	p.L480L	GALNT15_ENST00000437509.1_Silent_p.L480L	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	480					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										AAAGGAGACTGGGTTGTCGGA	0.532																																						ENST00000339732.5																			0											c.(1438-1440)ctG>ctT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15							220.0	199.0	206.0					3																	16260957		2203	4300	6503	SO:0001819	synonymous_variant	117248							g.chr3:16260957G>T	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1440G>T	3.37:g.16260957G>T						GALNT15_ENST00000437509.1_Silent_p.L480L	p.L480L	NM_054110.4	NP_473451.3					7	1943	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Silent	SNP	ENST00000339732.5	37	c.1440G>T	CCDS33711.1																																																																																				0.532	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		18	159	1	0	4.96729e-08	1	6.56885e-08	18	159				
FAM135B	51059	broad.mit.edu	37	8	139277987	139277987	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:139277987C>A	ENST00000395297.1	-	4	426	c.256G>T	c.(256-258)Gct>Tct	p.A86S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	86										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AAGACCACAGCATCATTTATG	0.498										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(256-258)Gct>Tct		family with sequence similarity 135, member B							105.0	103.0	104.0					8																	139277987		1938	4159	6097	SO:0001583	missense	51059							g.chr8:139277987C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.256G>T	8.37:g.139277987C>A	ENSP00000378710:p.Ala86Ser	HNSCC(54;0.14)					p.A86S	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		4	426	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		86					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.256G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	9.528	1.110001	0.20714	.	.	ENSG00000147724	ENST00000395297;ENST00000160713	T	0.14144	2.53	5.92	3.06	0.35304	.	0.542642	0.16102	U	0.229499	T	0.07503	0.0189	L	0.27053	0.805	0.09310	N	1	B	0.13594	0.008	B	0.14023	0.01	T	0.29427	-1.0012	10	0.19590	T	0.45	-9.0611	3.7389	0.08521	0.1702:0.5773:0.1639:0.0886	.	86	Q49AJ0	F135B_HUMAN	S	86	ENSP00000378710:A86S	ENSP00000160713:A86S	A	-	1	0	FAM135B	139347169	0.979000	0.34478	0.885000	0.34714	0.515000	0.34225	1.108000	0.31123	2.809000	0.96659	0.655000	0.94253	GCT		0.498	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		9	54	1	0	1.12685e-05	1	1.36711e-05	9	54				
DSCAM	1826	broad.mit.edu	37	21	41668079	41668079	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:41668079C>A	ENST00000400454.1	-	10	2562	c.2085G>T	c.(2083-2085)caG>caT	p.Q695H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	695	Ig-like C2-type 8.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGTCCCGTGGCTGAACCACAA	0.433																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(2083-2085)caG>caT		Down syndrome cell adhesion molecule							97.0	101.0	99.0					21																	41668079		1896	4117	6013	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41668079C>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2085G>T	21.37:g.41668079C>A	ENSP00000383303:p.Gln695His						p.Q695H	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			10	2562	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	695			Ig-like C2-type 8.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.2085G>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443842	0.63067	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.28666	1.6;1.6	5.3	0.401	0.16338	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.31040	0.0784	N	0.21508	0.67	0.39517	D	0.968459	P	0.50819	0.939	P	0.57846	0.828	T	0.06844	-1.0804	10	0.62326	D	0.03	.	9.1087	0.36714	0.0:0.5503:0.0:0.4497	.	695	O60469	DSCAM_HUMAN	H	695;447	ENSP00000383303:Q695H;ENSP00000385342:Q447H	ENSP00000383303:Q695H	Q	-	3	2	DSCAM	40589949	0.079000	0.21365	0.992000	0.48379	0.855000	0.48748	-0.649000	0.05384	-0.126000	0.11682	0.555000	0.69702	CAG		0.433	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		10	44	1	0	0.00829132	1	0.00882659	10	44				
HIP1	3092	broad.mit.edu	37	7	75178230	75178230	+	Missense_Mutation	SNP	C	C	G	rs373802536		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:75178230C>G	ENST00000336926.6	-	23	2391	c.2365G>C	c.(2365-2367)Gcc>Ccc	p.A789P	HIP1_ENST00000434438.2_Missense_Mutation_p.A789P	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	789	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCTGAAGTGGCCGCCATCTCC	0.567			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2365-2367)Gcc>Ccc		huntingtin interacting protein 1							210.0	197.0	201.0					7																	75178230		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75178230C>G	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2365G>C	7.37:g.75178230C>G	ENSP00000336747:p.Ala789Pro					HIP1_ENST00000434438.2_Missense_Mutation_p.A789P	p.A789P	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN			23	2391	-			789			I/LWEQ.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.2365G>C	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.048191	0.75846	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.32272	1.46;1.46	4.77	2.95	0.34219	I/LWEQ (1);	0.211270	0.49305	D	0.000143	T	0.50497	0.1619	M	0.81497	2.545	0.47407	D	0.999413	P;P	0.45569	0.861;0.66	P;B	0.59424	0.857;0.2	T	0.45512	-0.9256	10	0.48119	T	0.1	-4.3526	9.551	0.39310	0.0:0.8254:0.0:0.1746	.	789;789	E7ES17;O00291	.;HIP1_HUMAN	P	789	ENSP00000336747:A789P;ENSP00000410300:A789P	ENSP00000336747:A789P	A	-	1	0	HIP1	75016166	0.371000	0.25056	0.731000	0.30826	0.991000	0.79684	0.986000	0.29590	0.436000	0.26393	0.561000	0.74099	GCC		0.567	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		39	192	0	0	0	1	0	39	192				
GRM1	2911	broad.mit.edu	37	6	146480533	146480533	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:146480533G>A	ENST00000282753.1	+	2	985	c.750G>A	c.(748-750)caG>caA	p.Q250Q	GRM1_ENST00000361719.2_Silent_p.Q250Q|GRM1_ENST00000492807.2_Silent_p.Q250Q|GRM1_ENST00000355289.4_Silent_p.Q250Q|GRM1_ENST00000507907.1_Silent_p.Q250Q|GRM1_ENST00000392299.2_Silent_p.Q250Q			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	250					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TGGCTGCCCAGGAAGGCCTCT	0.512																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(748-750)caG>caA		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						107.0	100.0	102.0					6																	146480533		2203	4300	6503	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480533G>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.750G>A	6.37:g.146480533G>A						GRM1_ENST00000361719.2_Silent_p.Q250Q|GRM1_ENST00000355289.4_Silent_p.Q250Q|GRM1_ENST00000282753.1_Silent_p.Q250Q|GRM1_ENST00000492807.2_Silent_p.Q250Q|GRM1_ENST00000507907.1_Silent_p.Q250Q	p.Q250Q			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	3	1220	+		Ovarian(120;0.0387)	250					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.750G>A	CCDS5209.1																																																																																				0.512	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		18	93	0	0	0	1	0	18	93				
RAD54B	25788	broad.mit.edu	37	8	95390855	95390855	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:95390855G>C	ENST00000336148.5	-	13	2379	c.2255C>G	c.(2254-2256)tCt>tGt	p.S752C		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	752	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			CCATACTCTAGACATTGCCTA	0.358								Direct reversal of damage;Homologous recombination																														ENST00000336148.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2254-2256)tCt>tGt	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)							79.0	82.0	81.0					8																	95390855		2203	4299	6502	SO:0001583	missense	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95390855G>C	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.2255C>G	8.37:g.95390855G>C	ENSP00000336606:p.Ser752Cys						p.S752C	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		13	2379	-	Breast(36;4.5e-05)		0					F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	c.2255C>G	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701176	0.88924	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	T	0.75477	-0.94	5.76	4.83	0.62350	Helicase, C-terminal (3);	0.157178	0.56097	D	0.000030	T	0.77980	0.4212	L	0.33245	0.995	0.80722	D	1	D	0.55800	0.973	P	0.60682	0.878	T	0.80202	-0.1480	10	0.87932	D	0	-20.7894	15.5966	0.76587	0.0:0.0:0.8618:0.1382	.	752	Q9Y620	RA54B_HUMAN	C	752;424	ENSP00000336606:S752C	ENSP00000336606:S752C	S	-	2	0	RAD54B	95460031	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.434000	0.80377	2.726000	0.93360	0.655000	0.94253	TCT		0.358	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		9	34	0	0	0	1	0	9	34				
AKAP3	10566	broad.mit.edu	37	12	4737172	4737172	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:4737172G>C	ENST00000545990.2	-	5	1420	c.896C>G	c.(895-897)tCc>tGc	p.S299C	AKAP3_ENST00000228850.1_Missense_Mutation_p.S299C|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	299					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CTTCATGATGGAGACCATCAT	0.463																																						ENST00000545990.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						c.(895-897)tCc>tGc		A kinase (PRKA) anchor protein 3							131.0	108.0	116.0					12																	4737172		2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4737172G>C	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.896C>G	12.37:g.4737172G>C	ENSP00000440994:p.Ser299Cys					AKAP3_ENST00000228850.1_Missense_Mutation_p.S299C	p.S299C	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN			5	1420	-			299					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.896C>G	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624647	0.66901	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.13420	2.59;2.59	5.67	5.67	0.87782	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.64402	D	0.000007	T	0.40862	0.1134	M	0.78801	2.425	0.40513	D	0.980753	D	0.89917	1.0	D	0.91635	0.999	T	0.23154	-1.0196	10	0.87932	D	0	.	17.0413	0.86490	0.0:0.0:1.0:0.0	.	299	O75969	AKAP3_HUMAN	C	299	ENSP00000228850:S299C;ENSP00000440994:S299C	ENSP00000228850:S299C	S	-	2	0	AKAP3	4607433	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.559000	0.67326	2.828000	0.97474	0.655000	0.94253	TCC		0.463	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		5	47	0	0	0	1	0	5	47				
HSF1	3297	broad.mit.edu	37	8	145515554	145515554	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:145515554C>A	ENST00000528838.1	+	1	275	c.115C>A	c.(115-117)Ccg>Acg	p.P39T	BOP1_ENST00000307404.5_5'Flank|BOP1_ENST00000529231.1_5'Flank	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	39					cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CTGCTGGAGCCCGGTGAGGGC	0.801																																						ENST00000528838.1																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11						c.(115-117)Ccg>Acg		heat shock transcription factor 1							5.0	6.0	6.0					8																	145515554		2042	4090	6132	SO:0001583	missense	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145515554C>A	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.115C>A	8.37:g.145515554C>A	ENSP00000431512:p.Pro39Thr						p.P39T	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		1	275	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		39					A8K4L0|A8MW26|Q53XT4	Missense_Mutation	SNP	ENST00000528838.1	37	c.115C>A	CCDS6419.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631060	0.67015	.	.	ENSG00000185122	ENST00000528838	D	0.90133	-2.62	4.88	4.88	0.63580	Winged helix-turn-helix transcription repressor DNA-binding (1);Heat shock factor (HSF)-type, DNA-binding (3);	0.236666	0.42053	D	0.000774	D	0.93268	0.7855	L	0.52266	1.64	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.92979	0.6404	10	0.44086	T	0.13	0.0148	15.5266	0.75915	0.0:1.0:0.0:0.0	.	39	Q00613	HSF1_HUMAN	T	39	ENSP00000431512:P39T	ENSP00000431512:P39T	P	+	1	0	HSF1	145486362	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	1.049000	0.30392	2.247000	0.74100	0.563000	0.77884	CCG		0.801	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		3	6	1	0	1	1	1	3	6				
CFTR	1080	broad.mit.edu	37	7	117267747	117267747	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:117267747G>A	ENST00000003084.6	+	22	3772	c.3640G>A	c.(3640-3642)Gat>Aat	p.D1214N	CFTR_ENST00000454343.1_Missense_Mutation_p.D1153N|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1214	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GACTGTCAAAGATCTCACAGC	0.428									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69						c.(3640-3642)Gat>Aat		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						85.0	80.0	82.0					7																	117267747		2203	4300	6503	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117267747G>A	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3640G>A	7.37:g.117267747G>A	ENSP00000003084:p.Asp1214Asn					CFTR_ENST00000454343.1_Missense_Mutation_p.D1153N|AC000111.6_ENST00000456270.1_RNA	p.D1214N	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		22	3772	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		1214			ABC transporter 2.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.3640G>A	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	2.840	-0.240690	0.05944	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.89939	-2.59;-2.59;-2.59	5.86	4.98	0.66077	ABC transporter-like (1);	0.133094	0.64402	D	0.000001	T	0.69922	0.3165	N	0.02315	-0.6	0.38987	D	0.959067	B	0.02656	0.0	B	0.04013	0.001	T	0.67055	-0.5767	10	0.02654	T	1	-11.4545	11.5459	0.50693	0.1372:0.0:0.8628:0.0	.	1214	P13569	CFTR_HUMAN	N	1214;1153;1184	ENSP00000003084:D1214N;ENSP00000403677:D1153N;ENSP00000389119:D1184N	ENSP00000003084:D1214N	D	+	1	0	CFTR	117054983	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	3.747000	0.55134	1.623000	0.50342	0.650000	0.86243	GAT		0.428	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		18	63	0	0	0	1	0	18	63				
RPL7	6129	broad.mit.edu	37	8	74204133	74204133	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:74204133C>T	ENST00000352983.2	-	4	588	c.303G>A	c.(301-303)gtG>gtA	p.V101V	RDH10_ENST00000240285.5_5'Flank|RPL7_ENST00000396466.1_Silent_p.V61V|RPL7_ENST00000396467.1_Silent_p.V61V|RPL7_ENST00000487500.1_5'Flank|RPL7_ENST00000396465.1_Silent_p.V61V			P18124	RL7_HUMAN	ribosomal protein L7	101					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			CCTTTGGGCTCACTCCATTGA	0.393																																						ENST00000396467.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(181-183)gtG>gtA		ribosomal protein L7							124.0	123.0	123.0					8																	74204133		2203	4300	6503	SO:0001819	synonymous_variant	6129				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome	g.chr8:74204133C>T	L16557	CCDS6212.1	8q13.3	2011-04-06			ENSG00000147604	ENSG00000147604		"""L ribosomal proteins"""	10363	protein-coding gene	gene with protein product		604166				8360149, 8441630	Standard	XM_006716463		Approved	humL7-1, L7	uc003xzg.3	P18124	OTTHUMG00000134312	ENST00000352983.2:c.303G>A	8.37:g.74204133C>T						RPL7_ENST00000396466.1_Silent_p.V61V|RPL7_ENST00000352983.2_Silent_p.V101V|RPL7_ENST00000396465.1_Silent_p.V61V	p.V61V	NM_000971.3	NP_000962.2	P18124	RL7_HUMAN	Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)		4	321	-	Breast(64;0.0954)		101					A8K504|Q15289|Q3KQU0|Q5I0X1|Q6IBM9	Silent	SNP	ENST00000352983.2	37	c.183G>A	CCDS6212.1																																																																																				0.393	RPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259287.1	NM_000971		14	117	0	0	0	1	0	14	117				
RPS6KA6	27330	broad.mit.edu	37	X	83352785	83352785	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:83352785C>A	ENST00000262752.2	-	19	1855	c.1848G>T	c.(1846-1848)ttG>ttT	p.L616F	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.L616F|RPS6KA6_ENST00000495332.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	616	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CTTACCCAGCCAACATTGTGT	0.308																																						ENST00000262752.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(1846-1848)ttG>ttT		ribosomal protein S6 kinase, 90kDa, polypeptide 6							119.0	115.0	116.0					X																	83352785		2203	4293	6496	SO:0001583	missense	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83352785C>A	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1848G>T	X.37:g.83352785C>A	ENSP00000262752:p.Leu616Phe					RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.L616F	p.L616F	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			19	1855	-			616			Protein kinase 2.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.1848G>T	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240293	0.79912	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.51574	0.7;0.7	5.46	5.46	0.80206	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.073079	0.56097	D	0.000028	T	0.73552	0.3601	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78671	-0.2113	10	0.87932	D	0	.	18.392	0.90486	0.0:1.0:0.0:0.0	.	616;616	B7ZL90;Q9UK32	.;KS6A6_HUMAN	F	616	ENSP00000262752:L616F;ENSP00000440830:L616F	ENSP00000262752:L616F	L	-	3	2	RPS6KA6	83239441	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.675000	0.46875	2.284000	0.76573	0.600000	0.82982	TTG		0.308	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		7	73	1	0	0.00307968	1	0.00332671	7	73				
UNC5D	137970	broad.mit.edu	37	8	35425630	35425630	+	Nonsense_Mutation	SNP	G	G	T	rs151297319		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:35425630G>T	ENST00000404895.2	+	3	665	c.337G>T	c.(337-339)Gaa>Taa	p.E113*	UNC5D_ENST00000453357.2_Nonsense_Mutation_p.E108*|UNC5D_ENST00000420357.1_Nonsense_Mutation_p.E113*|UNC5D_ENST00000287272.2_Nonsense_Mutation_p.E113*|UNC5D_ENST00000416672.1_Nonsense_Mutation_p.E113*	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	113	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GAAGGTCCGCGAAGTGTTCAT	0.483																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(337-339)Gaa>Taa		unc-5 homolog D (C. elegans)							167.0	168.0	168.0					8																	35425630		2203	4300	6503	SO:0001587	stop_gained	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35425630G>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.337G>T	8.37:g.35425630G>T	ENSP00000385143:p.Glu113*					UNC5D_ENST00000420357.1_Nonsense_Mutation_p.E113*|UNC5D_ENST00000453357.2_Nonsense_Mutation_p.E108*|UNC5D_ENST00000404895.2_Nonsense_Mutation_p.E113*|UNC5D_ENST00000416672.1_Nonsense_Mutation_p.E113*	p.E113*			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	3	357	+			113			Ig-like.		Q8WYP7	Nonsense_Mutation	SNP	ENST00000404895.2	37	c.337G>T	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	37	6.005555	0.97195	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.5893	19.0227	0.92921	0.0:0.0:1.0:0.0	.	.	.	.	X	113;113;113;113;108	.	ENSP00000287272:E113X	E	+	1	0	UNC5D	35545172	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	9.775000	0.98995	2.559000	0.86315	0.655000	0.94253	GAA		0.483	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			14	194	1	0	2.31682e-05	1	2.74084e-05	14	194				
RPLP0P2	113157	broad.mit.edu	37	11	61404303	61404303	+	RNA	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:61404303C>T	ENST00000496593.1	+	0	907					NR_002775.2				ribosomal protein, large, P0 pseudogene 2																		TGCGGCAAGGCCGTGGTGCTG	0.557																																						ENST00000496593.1																			0																																																			113157							g.chr11:61404303C>T	BC010523		11q12.2	2014-08-07			ENSG00000243742	ENSG00000243742		"""L ribosomal proteins"""	17960	pseudogene	pseudogene						19123937, 25089627	Standard	NR_002775		Approved		uc001nrz.1		OTTHUMG00000158396		11.37:g.61404303C>T								NR_002775.2						0	907	+									RNA	SNP	ENST00000496593.1	37																																																																																						0.557	RPLP0P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000350911.1	NR_002775		3	22	0	0	0	1	0	3	22				
CFHR2	3080	broad.mit.edu	37	1	196928019	196928019	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:196928019G>T	ENST00000367415.5	+	5	722	c.622G>T	c.(622-624)Gta>Tta	p.V208L	CFHR2_ENST00000367421.3_Missense_Mutation_p.V208L|CFHR2_ENST00000476712.2_Missense_Mutation_p.V192L|CFHR2_ENST00000496448.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	208	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)		p.V208I(1)		large_intestine(2)|ovary(1)|skin(3)	6						AGATCCATGTGTAATATCACA	0.279																																						ENST00000367415.4																			1	Substitution - Missense(1)	p.V208I(1)	skin(1)	large_intestine(2)|ovary(1)|skin(3)	6						c.(622-624)Gta>Tta		complement factor H-related 2							31.0	33.0	32.0					1																	196928019		2177	4275	6452	SO:0001583	missense	3080					extracellular region		g.chr1:196928019G>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.622G>T	1.37:g.196928019G>T	ENSP00000356385:p.Val208Leu					CFHR2_ENST00000367421.3_Missense_Mutation_p.V208L|CFHR2_ENST00000476712.1_3'UTR	p.V208L	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN			5	736	+			208			Sushi 4.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	37	c.622G>T	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	10.88	1.476564	0.26511	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.47869	0.83;0.83	3.52	-1.03	0.10102	Complement control module (1);Sushi/SCR/CCP (1);	0.275238	0.19287	N	0.118008	T	0.36468	0.0968	M	0.64080	1.96	0.09310	N	1	B;P	0.38767	0.09;0.646	B;B	0.39503	0.124;0.301	T	0.15206	-1.0445	10	0.28530	T	0.3	.	3.135	0.06436	0.4537:0.0:0.3539:0.1924	.	181;208	P36980-2;P36980	.;FHR2_HUMAN	L	208	ENSP00000356391:V208L;ENSP00000356385:V208L	ENSP00000356385:V208L	V	+	1	0	CFHR2	195194642	0.106000	0.21978	0.589000	0.28718	0.052000	0.14988	0.055000	0.14229	0.170000	0.19704	-0.300000	0.09419	GTA		0.279	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		6	25	1	0	0.00116845	1	0.00129152	6	25				
KIF25	3834	broad.mit.edu	37	6	168431458	168431458	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:168431458A>C	ENST00000443060.2	+	4	489	c.98A>C	c.(97-99)tAt>tCt	p.Y33S	KIF25_ENST00000354419.2_Missense_Mutation_p.Y33S|KIF25_ENST00000351261.3_Missense_Mutation_p.Y33S			Q9UIL4	KIF25_HUMAN	kinesin family member 25	33	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CTCAGGGTTTATGGTCCAGCA	0.478																																						ENST00000443060.2																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(97-99)tAt>tCt		kinesin family member 25							120.0	121.0	121.0					6																	168431458		2203	4300	6503	SO:0001583	missense	3834				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168431458A>C	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.98A>C	6.37:g.168431458A>C	ENSP00000388878:p.Tyr33Ser					KIF25_ENST00000354419.2_Missense_Mutation_p.Y33S|KIF25_ENST00000351261.3_Missense_Mutation_p.Y33S	p.Y33S			Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	4	489	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	33			Kinesin-motor.		O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	c.98A>C	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.511447	0.27036	.	.	ENSG00000125337	ENST00000443060;ENST00000354419;ENST00000351261	T;T;T	0.73363	-0.74;-0.74;0.88	4.27	3.09	0.35607	Kinesin, motor domain (4);	0.160353	0.42964	D	0.000638	T	0.76499	0.3996	M	0.84219	2.685	0.29069	N	0.883415	D;D	0.69078	0.997;0.985	D;P	0.64237	0.923;0.877	T	0.71833	-0.4473	10	0.87932	D	0	-25.3013	7.5418	0.27742	0.8961:0.0:0.1039:0.0	.	33;33	Q9UIL4-2;Q9UIL4	.;KIF25_HUMAN	S	33	ENSP00000388878:Y33S;ENSP00000346401:Y33S;ENSP00000252688:Y33S	ENSP00000252688:Y33S	Y	+	2	0	KIF25	168174307	0.923000	0.31300	0.036000	0.18154	0.054000	0.15201	3.705000	0.54823	0.490000	0.27771	-0.376000	0.06991	TAT		0.478	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			6	70	0	0	0	1	0	6	70				
TCEAL6	158931	broad.mit.edu	37	X	101396231	101396231	+	Missense_Mutation	SNP	C	C	T	rs200560038		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:101396231C>T	ENST00000372774.3	-	3	322	c.73G>A	c.(73-75)Gat>Aat	p.D25N	TCEAL6_ENST00000372773.1_Missense_Mutation_p.D25N	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	25	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						ccttcatcatcaggctctact	0.488													C|||	7	0.0018543	0.0	0.0014	3775	,	,		14123	0.0		0.005	False		,,,				2504	0.001					ENST00000372774.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						c.(73-75)Gat>Aat		transcription elongation factor A (SII)-like 6		C	ASN/ASP	7,3828		0,5,2,1627,569	90.0	78.0	82.0		73	1.6	0.0	X		82	60,6668		0,43,17,2385,1855	no	missense	TCEAL6	NM_001006938.2	23	0,48,19,4012,2424	TT,TC,T,CC,C		0.8918,0.1825,0.6343	benign	25/184	101396231	67,10496	2203	4300	6503	SO:0001583	missense	158931				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101396231C>T	BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.73G>A	X.37:g.101396231C>T	ENSP00000361860:p.Asp25Asn					TCEAL6_ENST00000372773.1_Missense_Mutation_p.D25N	p.D25N	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN			3	322	-			25			Glu-rich.		Q5H9J8	Missense_Mutation	SNP	ENST00000372774.3	37	c.73G>A	CCDS43978.1	4	0.0024110910186859553	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	G	15.77	2.930544	0.52866	0.001825	0.008918	ENSG00000204071	ENST00000372774;ENST00000372773;ENST00000536102	T;T	0.22336	1.96;1.96	2.5	1.63	0.23807	.	0.417057	0.17717	N	0.164361	T	0.07728	0.0194	N	0.22421	0.69	0.09310	N	1	B	0.33238	0.403	B	0.27796	0.083	T	0.18745	-1.0327	10	0.37606	T	0.19	.	6.9159	0.24359	0.0:0.8442:0.0:0.1558	.	25	Q6IPX3-2	.	N	25	ENSP00000361860:D25N;ENSP00000361859:D25N	ENSP00000361859:D25N	D	-	1	0	TCEAL6	101282887	0.000000	0.05858	0.002000	0.10522	0.855000	0.48748	-0.093000	0.11111	0.474000	0.27392	0.292000	0.19580	GAT		0.488	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057609.1	NM_001006938		3	20	0	0	0	1	0	3	20				
EPHA2	1969	broad.mit.edu	37	1	16475422	16475422	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:16475422C>A	ENST00000358432.5	-	3	428	c.274G>T	c.(274-276)Gag>Tag	p.E92*	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	92	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Mediates interaction with CLDN4.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	AAGATACGCTCAGCCTCTCCT	0.537																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(274-276)Gag>Tag		EPH receptor A2	Dasatinib(DB01254)						110.0	91.0	98.0					1																	16475422		2203	4300	6503	SO:0001587	stop_gained	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16475422C>A	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.274G>T	1.37:g.16475422C>A	ENSP00000351209:p.Glu92*					EPHA2_ENST00000461614.1_5'UTR	p.E92*	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	3	428	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	92					B5A968|Q8N3Z2	Nonsense_Mutation	SNP	ENST00000358432.5	37	c.274G>T	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	32	5.105754	0.94292	.	.	ENSG00000142627	ENST00000358432	.	.	.	5.35	5.35	0.76521	.	0.000000	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.3082	0.54914	0.0:0.8293:0.1707:0.0	.	.	.	.	X	92	.	ENSP00000351209:E92X	E	-	1	0	EPHA2	16348009	0.969000	0.33509	1.000000	0.80357	0.815000	0.46073	2.036000	0.41165	2.503000	0.84419	0.561000	0.74099	GAG		0.537	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		13	67	1	0	1.49906e-05	1	1.79976e-05	13	67				
C6	729	broad.mit.edu	37	5	41160391	41160391	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:41160391C>A	ENST00000263413.3	-	11	1801	c.1537G>T	c.(1537-1539)Gag>Tag	p.E513*	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Nonsense_Mutation_p.E513*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	513	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GCTGCATACTCTTGCAAAGCT	0.522																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1537-1539)Gag>Tag		complement component 6							223.0	192.0	203.0					5																	41160391		2203	4300	6503	SO:0001587	stop_gained	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41160391C>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1537G>T	5.37:g.41160391C>A	ENSP00000263413:p.Glu513*					C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Nonsense_Mutation_p.E513*	p.E513*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			11	1801	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	513			MACPF.			Nonsense_Mutation	SNP	ENST00000263413.3	37	c.1537G>T	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	39	7.417664	0.98272	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	.	.	.	6.06	6.06	0.98353	.	0.099837	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-22.1137	13.7717	0.63029	0.0:0.9303:0.0:0.0697	.	.	.	.	X	513	.	ENSP00000263413:E513X	E	-	1	0	C6	41196148	0.985000	0.35326	0.888000	0.34837	0.669000	0.39330	2.631000	0.46502	2.882000	0.98803	0.655000	0.94253	GAG		0.522	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			26	96	1	0	6.32553e-13	1	9.39527e-13	26	96				
PROKR1	10887	broad.mit.edu	37	2	68882461	68882461	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:68882461C>A	ENST00000303786.3	+	3	1355	c.935C>A	c.(934-936)aCc>aAc	p.T312N	PROKR1_ENST00000394342.2_Missense_Mutation_p.T312N			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	312					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TTCTTCCCCACCGTGTTTGTG	0.572																																						ENST00000303786.3																			0				endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(934-936)aCc>aAc		prokineticin receptor 1							169.0	124.0	139.0					2																	68882461		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68882461C>A	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.935C>A	2.37:g.68882461C>A	ENSP00000303775:p.Thr312Asn					PROKR1_ENST00000394342.2_Missense_Mutation_p.T312N	p.T312N			Q8TCW9	PKR1_HUMAN			3	1355	+			312					A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.935C>A	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	C	4.828	0.153863	0.09185	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.72167	-0.63;-0.63	4.68	2.89	0.33648	GPCR, rhodopsin-like superfamily (1);	0.447588	0.28659	N	0.014563	T	0.49762	0.1576	N	0.16307	0.4	0.09310	N	1	B	0.02656	0.0	B	0.16722	0.016	T	0.28713	-1.0035	10	0.19590	T	0.45	.	8.6392	0.33968	0.0:0.7603:0.154:0.0856	.	312	Q8TCW9	PKR1_HUMAN	N	312	ENSP00000303775:T312N;ENSP00000377874:T312N	ENSP00000303775:T312N	T	+	2	0	PROKR1	68735965	0.002000	0.14202	0.002000	0.10522	0.982000	0.71751	1.794000	0.38774	0.892000	0.36259	0.655000	0.94253	ACC		0.572	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			14	67	1	0	7.93312e-07	1	1.00312e-06	14	67				
CFAP221	200373	broad.mit.edu	37	2	120362333	120362333	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:120362333C>A	ENST00000413369.3	+	9	964	c.877C>A	c.(877-879)Cga>Aga	p.R293R	PCDP1_ENST00000602047.1_Silent_p.R7R|PCDP1_ENST00000597189.1_3'UTR	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					AAATTTTCACCGACCGCCAGC	0.448																																						ENST00000602047.1																			0											c.(19-21)Cga>Aga									52.0	56.0	55.0					2																	120362333		2203	4300	6503	SO:0001819	synonymous_variant	200373					cilium	calmodulin binding	g.chr2:120362333C>A																												ENST00000413369.3:c.877C>A	2.37:g.120362333C>A						PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000413369.3_Silent_p.R293R	p.R7R			Q4G0U5	PCDP1_HUMAN			10	1131	+	Colorectal(110;0.196)		293						Silent	SNP	ENST00000413369.3	37	c.19C>A	CCDS33282.2																																																																																				0.448	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			11	62	1	0	1.08611e-07	1	1.42695e-07	11	62				
MCC	4163	broad.mit.edu	37	5	112406805	112406805	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:112406805C>T	ENST00000302475.4	-	10	1904	c.1341G>A	c.(1339-1341)ctG>ctA	p.L447L	MCC_ENST00000515367.2_Silent_p.L384L|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Silent_p.L637L	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	447					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ACTGCAAGGCCAGCCTCAGCG	0.483																																						ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1339-1341)ctG>ctA		mutated in colorectal cancers							224.0	176.0	192.0					5																	112406805		2202	4300	6502	SO:0001819	synonymous_variant	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112406805C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1341G>A	5.37:g.112406805C>T						MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Silent_p.L384L|MCC_ENST00000408903.3_Silent_p.L637L	p.L447L	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	10	1904	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	447					D3DT05|Q6ZR04	Silent	SNP	ENST00000302475.4	37	c.1341G>A	CCDS4111.1																																																																																				0.483	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		8	77	0	0	0	1	0	8	77				
RPLP0P6	220717	broad.mit.edu	37	2	38709239	38709239	+	lincRNA	SNP	T	T	C	rs112834477	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:38709239T>C	ENST00000417039.1	-	0	696																											GCCTCATATCTGGGGGAATGT	0.567													t|||	41	0.0081869	0.0295	0.0029	5008	,	,		20483	0.0		0.0	False		,,,				2504	0.0					ENST00000417039.1																			0																																																			220717							g.chr2:38709239T>C																													2.37:g.38709239T>C														0	696	-									RNA	SNP	ENST00000417039.1	37																																																																																						0.567	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			24	65	0	0	0	1	0	24	65				
SOX9	6662	broad.mit.edu	37	17	70118979	70118979	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:70118979A>T	ENST00000245479.2	+	2	923	c.551A>T	c.(550-552)aAc>aTc	p.N184I		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	184					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			TCGGTGAAGAACGGGCAGGCG	0.672																																					Pancreas(42;83 1041 2320 35205 39456)	ENST00000245479.2																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26						c.(550-552)aAc>aTc		SRY (sex determining region Y)-box 9							63.0	69.0	67.0					17																	70118979		2203	4300	6503	SO:0001583	missense	6662				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr17:70118979A>T	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.551A>T	17.37:g.70118979A>T	ENSP00000245479:p.Asn184Ile						p.N184I	NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		2	923	+		Colorectal(1115;0.245)	184					Q53Y80	Missense_Mutation	SNP	ENST00000245479.2	37	c.551A>T	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.852522	0.91355	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	D	0.97941	-4.62	4.61	4.61	0.57282	High mobility group, HMG1/HMG2 (1);	0.048589	0.85682	D	0.000000	D	0.98598	0.9531	M	0.86805	2.84	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.99081	1.0837	10	0.29301	T	0.29	.	14.0059	0.64463	1.0:0.0:0.0:0.0	.	184	P48436	SOX9_HUMAN	I	184	ENSP00000245479:N184I	ENSP00000245479:N184I	N	+	2	0	SOX9	67630574	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.898000	0.75676	1.716000	0.51395	0.402000	0.26972	AAC		0.672	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		13	81	0	0	0	1	0	13	81				
MPHOSPH8	54737	broad.mit.edu	37	13	20220853	20220853	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:20220853A>C	ENST00000361479.5	+	3	708	c.640A>C	c.(640-642)Aaa>Caa	p.K214Q	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.K214Q	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	214	Lys-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		AAAGGAGTCCAAAAAGCCCaa	0.333																																						ENST00000361479.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(640-642)Aaa>Caa		M-phase phosphoprotein 8							19.0	21.0	20.0					13																	20220853		2180	4288	6468	SO:0001583	missense	54737				cell cycle	cytoplasm|nucleus		g.chr13:20220853A>C	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.640A>C	13.37:g.20220853A>C	ENSP00000355388:p.Lys214Gln					MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.K214Q	p.K214Q	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	3	708	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	214			Lys-rich.		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	c.640A>C	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	A	15.11	2.736019	0.49045	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.39229	1.1;1.09	6.02	6.02	0.97574	.	0.342267	0.34088	N	0.004266	T	0.62527	0.2435	M	0.68952	2.095	0.39591	D	0.969583	D;D;D	0.69078	0.986;0.997;0.995	P;D;D	0.66084	0.796;0.94;0.941	T	0.66023	-0.6026	10	0.59425	D	0.04	.	16.542	0.84395	1.0:0.0:0.0:0.0	.	214;214;214	Q99549;Q99549-2;B3KS10	MPP8_HUMAN;.;.	Q	214	ENSP00000414663:K214Q;ENSP00000355388:K214Q	ENSP00000355388:K214Q	K	+	1	0	MPHOSPH8	19118853	1.000000	0.71417	0.778000	0.31720	0.036000	0.12997	5.192000	0.65115	2.304000	0.77564	0.528000	0.53228	AAA		0.333	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		5	22	0	0	0	1	0	5	22				
FAM19A1	407738	broad.mit.edu	37	3	68466453	68466453	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:68466453G>A	ENST00000478136.1	+	3	632	c.142G>A	c.(142-144)Gca>Aca	p.A48T	FAM19A1_ENST00000496687.1_Missense_Mutation_p.A48T|FAM19A1_ENST00000491017.1_3'UTR	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	48						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		TGAAGTGATAGCAGCACACCG	0.478																																						ENST00000478136.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7						c.(142-144)Gca>Aca		family with sequence similarity 19 (chemokine (C-C motif)-like), member A1							108.0	105.0	106.0					3																	68466453		1966	4145	6111	SO:0001583	missense	407738					endoplasmic reticulum|extracellular region		g.chr3:68466453G>A	AY325114	CCDS54606.1	3p14.1	2005-01-20			ENSG00000183662	ENSG00000183662			21587	protein-coding gene	gene with protein product						15028294	Standard	NM_213609		Approved	TAFA-1	uc003dnd.3	Q7Z5A9	OTTHUMG00000158745	ENST00000478136.1:c.142G>A	3.37:g.68466453G>A	ENSP00000418575:p.Ala48Thr					FAM19A1_ENST00000491017.1_3'UTR|FAM19A1_ENST00000496687.1_Missense_Mutation_p.A48T	p.A48T	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)	3	632	+		Lung NSC(201;0.0117)	48					A8K0V3|Q8TCL8	Missense_Mutation	SNP	ENST00000478136.1	37	c.142G>A	CCDS54606.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.877052	0.91664	.	.	ENSG00000183662	ENST00000478136;ENST00000496687	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.72922	0.3521	L	0.40543	1.245	0.54753	D	0.999982	D	0.69078	0.997	D	0.80764	0.994	T	0.66614	-0.5879	9	0.27082	T	0.32	.	20.1047	0.97888	0.0:0.0:1.0:0.0	.	48	Q7Z5A9	F19A1_HUMAN	T	48	.	ENSP00000418575:A48T	A	+	1	0	FAM19A1	68549143	1.000000	0.71417	0.451000	0.26982	0.987000	0.75469	9.809000	0.99208	2.819000	0.97034	0.585000	0.79938	GCA		0.478	FAM19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352004.1	NM_213609		18	42	0	0	0	1	0	18	42				
CSMD3	114788	broad.mit.edu	37	8	113256776	113256776	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:113256776G>C	ENST00000297405.5	-	65	10493	c.10249C>G	c.(10249-10251)Cct>Gct	p.P3417A	CSMD3_ENST00000352409.3_Missense_Mutation_p.P3347A|CSMD3_ENST00000455883.2_Missense_Mutation_p.P3248A|CSMD3_ENST00000343508.3_Missense_Mutation_p.P3377A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3417	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCATGAGCAGGAGTTTCTGGC	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10249-10251)Cct>Gct		CUB and Sushi multiple domains 3							114.0	101.0	105.0					8																	113256776		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113256776G>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10249C>G	8.37:g.113256776G>C	ENSP00000297405:p.Pro3417Ala	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.P3377A|CSMD3_ENST00000455883.2_Missense_Mutation_p.P3248A|CSMD3_ENST00000352409.3_Missense_Mutation_p.P3347A	p.P3417A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			65	10493	-			3417			Sushi 28.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10249C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802802	0.50315	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.17	4.29	0.51040	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.81074	0.4747	M	0.92367	3.3	0.48975	D	0.999738	D;D;D	0.76494	0.997;0.998;0.999	D;D;D	0.87578	0.978;0.983;0.998	T	0.83068	-0.0144	10	0.07325	T	0.83	.	15.8115	0.78568	0.0:0.1363:0.8637:0.0	.	3248;3417;3377	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	3377;3417;2687;3248;3347	ENSP00000345799:P3377A;ENSP00000297405:P3417A;ENSP00000341558:P2687A;ENSP00000412263:P3248A;ENSP00000343124:P3347A	ENSP00000297405:P3417A	P	-	1	0	CSMD3	113325952	1.000000	0.71417	0.999000	0.59377	0.179000	0.23085	9.411000	0.97342	1.392000	0.46585	-0.274000	0.10170	CCT		0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		11	73	0	0	0	1	0	11	73				
PTPN4	5775	broad.mit.edu	37	2	120620118	120620118	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:120620118G>T	ENST00000263708.2	+	3	916	c.145G>T	c.(145-147)Gat>Tat	p.D49Y		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	49	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ACAGAAACATGATCAGGGGCA	0.348																																						ENST00000263708.2																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.(145-147)Gat>Tat		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						129.0	119.0	123.0					2																	120620118		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120620118G>T		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.145G>T	2.37:g.120620118G>T	ENSP00000263708:p.Asp49Tyr						p.D49Y	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN			3	916	+			49			FERM.		B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.145G>T	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814529	0.50527	.	.	ENSG00000088179	ENST00000263708;ENST00000420482;ENST00000488279	T;T;T	0.77489	-1.1;-1.1;-1.1	5.28	5.28	0.74379	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.205916	0.50627	D	0.000110	T	0.79329	0.4427	M	0.80422	2.495	0.80722	D	1	B	0.29862	0.259	B	0.34931	0.192	T	0.79458	-0.1795	10	0.54805	T	0.06	.	11.2127	0.48808	0.0859:0.0:0.9141:0.0	.	49	P29074	PTN4_HUMAN	Y	49	ENSP00000263708:D49Y;ENSP00000405763:D49Y;ENSP00000438445:D49Y	ENSP00000263708:D49Y	D	+	1	0	PTPN4	120336588	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	5.557000	0.67313	2.465000	0.83290	0.561000	0.74099	GAT		0.348	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			9	48	1	0	0.00829132	1	0.00882659	9	48				
RPAP1	26015	broad.mit.edu	37	15	41819207	41819207	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:41819207C>A	ENST00000304330.4	-	14	1922	c.1806G>T	c.(1804-1806)tgG>tgT	p.W602C	RPAP1_ENST00000568413.1_5'Flank|RPAP1_ENST00000561603.1_Missense_Mutation_p.W602C	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	602						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCACAGGAGACCAACTGGTGG	0.547																																						ENST00000304330.4																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45						c.(1804-1806)tgG>tgT		RNA polymerase II associated protein 1							86.0	87.0	87.0					15																	41819207		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41819207C>A	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.1806G>T	15.37:g.41819207C>A	ENSP00000306123:p.Trp602Cys					RPAP1_ENST00000561603.1_Missense_Mutation_p.W602C	p.W602C	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	14	1922	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	602					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.1806G>T	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.920937	0.73213	.	.	ENSG00000103932	ENST00000304330	T	0.75050	-0.9	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.86806	0.6021	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88376	0.2998	10	0.87932	D	0	-10.6689	18.4795	0.90806	0.0:1.0:0.0:0.0	.	602	Q9BWH6	RPAP1_HUMAN	C	602	ENSP00000306123:W602C	ENSP00000306123:W602C	W	-	3	0	RPAP1	39606499	1.000000	0.71417	0.995000	0.50966	0.857000	0.48899	7.438000	0.80431	2.530000	0.85305	0.563000	0.77884	TGG		0.547	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		27	106	1	0	9.39395e-14	1	1.41347e-13	27	106				
CD38	952	broad.mit.edu	37	4	15780132	15780132	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:15780132T>C	ENST00000226279.3	+	1	232	c.95T>C	c.(94-96)gTc>gCc	p.V32A		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	32					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						AGTATCCTGGTCCTGATCCTC	0.662																																						ENST00000226279.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						c.(94-96)gTc>gCc		CD38 molecule							110.0	112.0	111.0					4																	15780132		2203	4300	6503	SO:0001583	missense	952				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity	g.chr4:15780132T>C	D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"""CD molecules"""	1667	protein-coding gene	gene with protein product	"""ADP-ribosyl cyclase 1"", ""NAD(+) nucleosidase"""	107270	"""CD38 antigen (p45)"""			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.95T>C	4.37:g.15780132T>C	ENSP00000226279:p.Val32Ala						p.V32A	NM_001775.2	NP_001766.2	P28907	CD38_HUMAN			1	232	+			32					O00121|O00122|Q96HY4	Missense_Mutation	SNP	ENST00000226279.3	37	c.95T>C	CCDS3417.1	.	.	.	.	.	.	.	.	.	.	T	11.08	1.532799	0.27387	.	.	ENSG00000004468	ENST00000226279;ENST00000540195	T	0.16597	2.33	2.66	1.47	0.22746	.	1.665100	0.03667	N	0.243386	T	0.15869	0.0382	L	0.43152	1.355	0.09310	N	1	B;B	0.26002	0.139;0.139	B;B	0.24155	0.051;0.051	T	0.26916	-1.0089	10	0.42905	T	0.14	.	4.3961	0.11363	0.0:0.1611:0.0:0.8389	.	32;32	P28907;B2R880	CD38_HUMAN;.	A	32	ENSP00000226279:V32A	ENSP00000226279:V32A	V	+	2	0	CD38	15389230	0.025000	0.19082	0.025000	0.17156	0.038000	0.13279	2.535000	0.45685	0.463000	0.27118	0.260000	0.18958	GTC		0.662	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775		14	105	0	0	0	1	0	14	105				
INPP5J	27124	broad.mit.edu	37	22	31522450	31522450	+	Missense_Mutation	SNP	G	G	A	rs150976596	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr22:31522450G>A	ENST00000331075.5	+	3	1409	c.1360G>A	c.(1360-1362)Gac>Aac	p.D454N	INPP5J_ENST00000402238.1_5'Flank|INPP5J_ENST00000404390.3_Missense_Mutation_p.D86N|INPP5J_ENST00000404453.1_5'Flank|INPP5J_ENST00000405300.1_Missense_Mutation_p.D87N|INPP5J_ENST00000400294.2_Missense_Mutation_p.D87N|INPP5J_ENST00000412277.2_Missense_Mutation_p.D387N|INPP5J_ENST00000401755.1_5'Flank	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	454	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						TGACGACAGCGACGGCGCAGA	0.667													G|||	11	0.00219649	0.0	0.0	5008	,	,		17775	0.0099		0.0	False		,,,				2504	0.001					ENST00000331075.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						c.(1360-1362)Gac>Aac		inositol polyphosphate-5-phosphatase J		G	ASN/ASP	1,4321		0,1,2160	128.0	135.0	133.0		256	2.7	0.1	22	dbSNP_134	133	0,8484		0,0,4242	yes	missense	INPP5J	NM_001002837.1	23	0,1,6402	AA,AG,GG		0.0,0.0231,0.0078	possibly-damaging	86/639	31522450	1,12805	2161	4242	6403	SO:0001583	missense	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31522450G>A	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.1360G>A	22.37:g.31522450G>A	ENSP00000333262:p.Asp454Asn					INPP5J_ENST00000405300.1_Missense_Mutation_p.D87N|INPP5J_ENST00000412277.2_Missense_Mutation_p.D387N|INPP5J_ENST00000404390.3_Missense_Mutation_p.D86N|INPP5J_ENST00000400294.2_Missense_Mutation_p.D87N	p.D454N			Q15735	PI5PA_HUMAN			3	1409	+			454			Catalytic (Potential).		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP	ENST00000331075.5	37	c.1360G>A		5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	G	4.938	0.174269	0.09391	2.31E-4	0.0	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000420017;ENST00000400294;ENST00000405300;ENST00000404390	D;D;D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63;-3.63;-3.63	4.8	2.7	0.31948	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.472295	0.23979	N	0.042682	D	0.82669	0.5087	N	0.16656	0.425	0.09310	N	1	B;B	0.19331	0.035;0.01	B;B	0.11329	0.005;0.006	T	0.73398	-0.3995	10	0.28530	T	0.3	.	8.0843	0.30762	0.2449:0.0:0.7551:0.0	.	454;86	Q15735;Q15735-3	PI5PA_HUMAN;.	N	454;387;19;87;87;86	ENSP00000333262:D454N;ENSP00000392924:D387N;ENSP00000406570:D19N;ENSP00000383150:D87N;ENSP00000384596:D87N;ENSP00000384534:D86N	ENSP00000333262:D454N	D	+	1	0	INPP5J	29852450	0.444000	0.25649	0.088000	0.20740	0.067000	0.16453	3.445000	0.52921	1.168000	0.42723	0.561000	0.74099	GAC		0.667	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837		12	175	0	0	0	1	0	12	175				
LAD1	3898	broad.mit.edu	37	1	201356286	201356286	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:201356286G>A	ENST00000391967.2	-	3	504	c.203C>T	c.(202-204)gCa>gTa	p.A68V	LAD1_ENST00000367313.3_Missense_Mutation_p.A82V	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	68						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GGGCACCTCTGCTTCTTCCAC	0.557																																						ENST00000391967.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						c.(202-204)gCa>gTa		ladinin 1							37.0	39.0	38.0					1																	201356286		2203	4300	6503	SO:0001583	missense	3898					basement membrane	structural molecule activity	g.chr1:201356286G>A	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.203C>T	1.37:g.201356286G>A	ENSP00000375829:p.Ala68Val					LAD1_ENST00000367313.3_Missense_Mutation_p.A82V	p.A68V	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN			3	504	-			68					O95614|Q96GD8	Missense_Mutation	SNP	ENST00000391967.2	37	c.203C>T	CCDS1410.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085929	0.36758	.	.	ENSG00000159166	ENST00000391967;ENST00000367313	T;T	0.15372	2.46;2.43	4.91	2.97	0.34412	.	0.778142	0.11973	N	0.511570	T	0.27205	0.0667	M	0.65975	2.015	0.22001	N	0.999429	D;P	0.56035	0.974;0.932	P;P	0.52066	0.689;0.578	T	0.09400	-1.0676	10	0.33940	T	0.23	-0.9075	8.036	0.30493	0.0:0.1755:0.6426:0.1819	.	82;68	E9PDI4;O00515	.;LAD1_HUMAN	V	68;82	ENSP00000375829:A68V;ENSP00000356282:A82V	ENSP00000356282:A82V	A	-	2	0	LAD1	199622909	0.002000	0.14202	0.343000	0.25615	0.015000	0.08874	0.079000	0.14782	0.437000	0.26423	-0.176000	0.13171	GCA		0.557	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		10	56	0	0	0	1	0	10	56				
LRP3	4037	broad.mit.edu	37	19	33697258	33697258	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:33697258C>T	ENST00000253193.7	+	5	1784	c.1582C>T	c.(1582-1584)Cag>Tag	p.Q528*	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	528					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					ACTGCGCACGCAGGAATACAG	0.657																																						ENST00000253193.7																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(1582-1584)Cag>Tag		low density lipoprotein receptor-related protein 3							17.0	19.0	18.0					19																	33697258		2198	4284	6482	SO:0001587	stop_gained	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33697258C>T	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1582C>T	19.37:g.33697258C>T	ENSP00000253193:p.Gln528*						p.Q528*	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN			5	1784	+	Esophageal squamous(110;0.137)		528					B3KQD6|B4DKF2	Nonsense_Mutation	SNP	ENST00000253193.7	37	c.1582C>T	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	C	36	5.828970	0.96996	.	.	ENSG00000130881	ENST00000253193	.	.	.	5.21	5.21	0.72293	.	0.061993	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-27.6816	11.5775	0.50873	0.2851:0.7149:0.0:0.0	.	.	.	.	X	528	.	ENSP00000253193:Q528X	Q	+	1	0	LRP3	38389098	0.476000	0.25901	0.998000	0.56505	0.736000	0.42039	1.048000	0.30379	2.437000	0.82529	0.491000	0.48974	CAG		0.657	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			5	17	0	0	0	1	0	5	17				
LRRTM4	80059	broad.mit.edu	37	2	77745717	77745717	+	Silent	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:77745717A>T	ENST00000409093.1	-	3	1614	c.1278T>A	c.(1276-1278)atT>atA	p.I426I	LRRTM4_ENST00000409282.1_Silent_p.I427I|LRRTM4_ENST00000409884.1_Silent_p.I426I|LRRTM4_ENST00000409088.3_Silent_p.I426I|LRRTM4_ENST00000409911.1_Silent_p.I427I			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	426					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CACTCCCGGCAATAATTTTGT	0.493																																						ENST00000409088.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(1276-1278)atT>atA		leucine rich repeat transmembrane neuronal 4							82.0	83.0	83.0					2																	77745717		1950	4151	6101	SO:0001819	synonymous_variant	80059					integral to membrane		g.chr2:77745717A>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1278T>A	2.37:g.77745717A>T						LRRTM4_ENST00000409884.1_Silent_p.I426I|LRRTM4_ENST00000409093.1_Silent_p.I426I|LRRTM4_ENST00000409282.1_Silent_p.I427I|LRRTM4_ENST00000409911.1_Silent_p.I427I	p.I426I	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1692	-			426					Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	c.1278T>A	CCDS46346.1																																																																																				0.493	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		5	57	0	0	0	1	0	5	57				
ATP8A1	10396	broad.mit.edu	37	4	42445638	42445638	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:42445638C>G	ENST00000381668.5	-	33	3298	c.3067G>C	c.(3067-3069)Gga>Cga	p.G1023R	AC084010.1_ENST00000582816.1_RNA|ATP8A1_ENST00000264449.10_Missense_Mutation_p.G1008R	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1023					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GAGTAGATTCCAAAAAACACC	0.448																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(3067-3069)Gga>Cga		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						129.0	115.0	120.0					4																	42445638		2203	4300	6503	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42445638C>G	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.3067G>C	4.37:g.42445638C>G	ENSP00000371084:p.Gly1023Arg					ATP8A1_ENST00000264449.10_Missense_Mutation_p.G1008R	p.G1023R	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			33	3298	-			1023					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.3067G>C	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186421	0.38609	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.89123	-2.47;-2.47	5.21	5.21	0.72293	.	0.337631	0.28257	N	0.016008	D	0.87505	0.6194	L	0.57536	1.79	0.80722	D	1	B;B;B	0.10296	0.001;0.003;0.003	B;B;B	0.12837	0.006;0.008;0.008	T	0.82713	-0.0321	10	0.25106	T	0.35	.	19.1267	0.93388	0.0:1.0:0.0:0.0	.	1008;1023;1015	Q32M35;Q9Y2Q0;E7EUK4	.;AT8A1_HUMAN;.	R	1023;1008	ENSP00000371084:G1023R;ENSP00000264449:G1008R	ENSP00000264449:G1008R	G	-	1	0	ATP8A1	42140395	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.767000	0.47637	2.602000	0.87976	0.655000	0.94253	GGA		0.448	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		4	33	0	0	0	1	0	4	33				
TTN	7273	broad.mit.edu	37	2	179462705	179462705	+	Silent	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:179462705T>C	ENST00000591111.1	-	243	52493	c.52269A>G	c.(52267-52269)agA>agG	p.R17423R	TTN_ENST00000342992.6_Silent_p.R16496R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.R10124R|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.R10191R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Silent_p.R9999R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Silent_p.R19064R|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17423	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.			R -> S (in Ref. 3; CAD12456). {ECO:0000305}.	adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTGACTGCTCTAACTCTAA	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(57190-57192)agA>agG		titin							197.0	197.0	197.0					2																	179462705		1879	4122	6001	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179462705T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52269A>G	2.37:g.179462705T>C						TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.R16496R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.R9999R|TTN_ENST00000591111.1_Silent_p.R17423R|TTN_ENST00000342175.6_Silent_p.R10191R|TTN_ENST00000359218.5_Silent_p.R10124R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA	p.R19064R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		293	57416	-			17423			Fibronectin type-III 38.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.57192A>G																																																																																					0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	96	0	0	0	1	0	21	96				
MTPAP	55149	broad.mit.edu	37	10	30629351	30629351	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:30629351T>A	ENST00000263063.4	-	3	402	c.359A>T	c.(358-360)cAa>cTa	p.Q120L	MTPAP_ENST00000358107.4_Missense_Mutation_p.Q250L|MTPAP_ENST00000488290.1_5'UTR	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	120					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GCTTTCCTTTTGGCAAAATTC	0.378																																						ENST00000358107.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(748-750)cAa>cTa		mitochondrial poly(A) polymerase							108.0	105.0	106.0					10																	30629351		2203	4300	6503	SO:0001583	missense	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30629351T>A	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.359A>T	10.37:g.30629351T>A	ENSP00000263063:p.Gln120Leu					MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000263063.3_Missense_Mutation_p.Q120L	p.Q250L			Q9NVV4	PAPD1_HUMAN			4	748	-			120					D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	ENST00000263063.4	37	c.749A>T	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	T	6.621	0.483023	0.12581	.	.	ENSG00000107951	ENST00000358107;ENST00000263063;ENST00000417581;ENST00000421701	T;T;T;T	0.41758	0.99;1.8;1.8;1.8	4.94	1.07	0.20283	.	0.593745	0.18305	N	0.145289	T	0.34803	0.0910	M	0.63428	1.95	0.09310	N	1	B;P;B	0.44627	0.302;0.839;0.036	B;B;B	0.35859	0.079;0.212;0.021	T	0.13845	-1.0494	10	0.39692	T	0.17	-1.5857	11.3356	0.49503	0.0:0.199:0.0:0.801	.	82;250;120	Q5T851;Q9NVV4-2;Q9NVV4	.;.;PAPD1_HUMAN	L	250;120;55;82	ENSP00000350820:Q250L;ENSP00000263063:Q120L;ENSP00000404392:Q55L;ENSP00000394118:Q82L	ENSP00000263063:Q120L	Q	-	2	0	MTPAP	30669357	0.995000	0.38212	0.065000	0.19835	0.062000	0.15995	2.479000	0.45197	-0.275000	0.09219	-1.431000	0.01090	CAA		0.378	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		5	62	0	0	0	1	0	5	62				
MAPK14	1432	broad.mit.edu	37	6	36020566	36020566	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:36020566C>T	ENST00000229794.4	+	2	595	c.207C>T	c.(205-207)taC>taT	p.Y69Y	MAPK14_ENST00000310795.4_Silent_p.Y69Y|MAPK14_ENST00000468133.1_5'UTR|MAPK14_ENST00000229795.3_Silent_p.Y69Y	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	69	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						AAAGAACCTACAGAGAACTGC	0.378																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)	ENST00000229795.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						c.(205-207)taC>taT		mitogen-activated protein kinase 14							100.0	96.0	97.0					6																	36020566		2203	4300	6503	SO:0001819	synonymous_variant	1432				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding	g.chr6:36020566C>T	L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"""Mitogen-activated protein kinase cascade / Kinases"""	6876	protein-coding gene	gene with protein product	"""p38 MAP kinase"""	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.207C>T	6.37:g.36020566C>T						MAPK14_ENST00000229794.4_Silent_p.Y69Y|MAPK14_ENST00000468133.1_5'UTR|MAPK14_ENST00000310795.4_Silent_p.Y69Y	p.Y69Y	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN			2	654	+			69			Protein kinase.		A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Silent	SNP	ENST00000229794.4	37	c.207C>T	CCDS4816.1																																																																																				0.378	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1	NM_001315		10	69	0	0	0	1	0	10	69				
ADAM7	8756	broad.mit.edu	37	8	24357694	24357694	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:24357694G>T	ENST00000175238.6	+	18	2010	c.1927G>T	c.(1927-1929)Gat>Tat	p.D643Y	RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.D415Y|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.D643Y|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	643	Cys-rich.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		cttccaggtggatggccacgg	0.428																																						ENST00000175238.6																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.(1927-1929)Gat>Tat		ADAM metallopeptidase domain 7							68.0	62.0	64.0					8																	24357694		2203	4300	6503	SO:0001583	missense	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24357694G>T	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1927G>T	8.37:g.24357694G>T	ENSP00000175238:p.Asp643Tyr					ADAM7_ENST00000380789.1_Missense_Mutation_p.D643Y|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.D415Y|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	p.D643Y	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	18	2010	+		Prostate(55;0.0181)	643			Cys-rich.		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	c.1927G>T	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461061	0.26248	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.50813	1.64;1.64;0.73	5.19	1.16	0.20824	.	0.424789	0.19751	N	0.106883	T	0.40956	0.1138	L	0.50333	1.59	0.28351	N	0.920887	D;D	0.56521	0.976;0.976	P;P	0.47744	0.556;0.556	T	0.38373	-0.9664	10	0.72032	D	0.01	.	3.0367	0.06124	0.2959:0.0:0.3719:0.3321	.	415;643	E5RK87;Q9H2U9	.;ADAM7_HUMAN	Y	643;643;415;458	ENSP00000175238:D643Y;ENSP00000370166:D643Y;ENSP00000430400:D415Y	ENSP00000175238:D643Y	D	+	1	0	ADAM7	24413584	1.000000	0.71417	0.908000	0.35775	0.026000	0.11368	1.303000	0.33470	0.451000	0.26802	0.491000	0.48974	GAT		0.428	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		3	19	1	0	0.00024832	1	0.000283794	3	19				
COL22A1	169044	broad.mit.edu	37	8	139672721	139672721	+	Silent	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:139672721A>T	ENST00000303045.6	-	44	3689	c.3243T>A	c.(3241-3243)ggT>ggA	p.G1081G	COL22A1_ENST00000435777.1_Silent_p.G1061G|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1081	Collagen-like 9.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTCCTGGTGCACCCTAAGAGA	0.468										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(3241-3243)ggT>ggA		collagen, type XXII, alpha 1							74.0	64.0	68.0					8																	139672721		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139672721A>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3243T>A	8.37:g.139672721A>T		HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Silent_p.G1061G|COL22A1_ENST00000341807.4_5'UTR	p.G1081G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		44	3689	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1081			Collagen-like 9.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.3243T>A	CCDS6376.1																																																																																				0.468	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		6	50	0	0	0	1	0	6	50				
PLCH1	23007	broad.mit.edu	37	3	155303875	155303875	+	Silent	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:155303875T>C	ENST00000340059.7	-	4	542	c.543A>G	c.(541-543)agA>agG	p.R181R	PLCH1_ENST00000494598.1_Silent_p.R181R|PLCH1_ENST00000334686.6_Silent_p.R163R|PLCH1_ENST00000460012.1_Silent_p.R163R|PLCH1_ENST00000447496.2_Silent_p.R181R|PLCH1_ENST00000414191.1_Silent_p.R163R	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	181	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTCTGACTTTTCTTCGGGGCA	0.353																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(487-489)agA>agG		phospholipase C, eta 1							127.0	124.0	125.0					3																	155303875		2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155303875T>C	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.543A>G	3.37:g.155303875T>C						PLCH1_ENST00000447496.2_Silent_p.R181R|PLCH1_ENST00000334686.6_Silent_p.R163R|PLCH1_ENST00000340059.7_Silent_p.R181R|PLCH1_ENST00000494598.1_Silent_p.R181R|PLCH1_ENST00000414191.1_Silent_p.R163R	p.R163R			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		5	846	-			181			EF-hand 1.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.489A>G	CCDS46939.1																																																																																				0.353	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		15	103	0	0	0	1	0	15	103				
HDX	139324	broad.mit.edu	37	X	83723604	83723604	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:83723604C>A	ENST00000297977.5	-	3	1238	c.1127G>T	c.(1126-1128)cGg>cTg	p.R376L	HDX_ENST00000373177.2_Missense_Mutation_p.R376L|HDX_ENST00000506585.2_Missense_Mutation_p.R318L	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	376						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TAATGAGGTCCGTGGTGTCAA	0.363																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(1126-1128)cGg>cTg		highly divergent homeobox							182.0	149.0	160.0					X																	83723604		2203	4300	6503	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83723604C>A	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1127G>T	X.37:g.83723604C>A	ENSP00000297977:p.Arg376Leu					HDX_ENST00000506585.2_Missense_Mutation_p.R318L|HDX_ENST00000373177.2_Missense_Mutation_p.R376L	p.R376L	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN			3	1238	-			376					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.1127G>T	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702294	0.30232	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.34472	1.39;1.36;1.39	5.19	3.41	0.39046	.	0.425645	0.23732	N	0.045114	T	0.31263	0.0791	L	0.54323	1.7	0.35268	D	0.780175	B	0.27498	0.18	B	0.19946	0.027	T	0.32719	-0.9896	10	0.72032	D	0.01	-13.0489	8.8973	0.35472	0.0:0.7607:0.0:0.2393	.	376	Q7Z353	HDX_HUMAN	L	376;318;376	ENSP00000297977:R376L;ENSP00000362272:R318L;ENSP00000423670:R376L	ENSP00000297977:R376L	R	-	2	0	HDX	83610260	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.444000	0.35068	0.398000	0.25338	0.415000	0.27848	CGG		0.363	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		5	22	1	0	0.000602214	1	0.000673014	5	22				
OR51T1	401665	broad.mit.edu	37	11	4903750	4903750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:4903750C>A	ENST00000322049.1	+	1	621	c.621C>A	c.(619-621)taC>taA	p.Y207*	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Nonsense_Mutation_p.Y234*|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCAGCTCTACCTGAATGGCA	0.443																																						ENST00000380378.1																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(700-702)taC>taA		olfactory receptor, family 51, subfamily T, member 1							130.0	120.0	123.0					11																	4903750		2201	4298	6499	SO:0001587	stop_gained	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903750C>A	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.621C>A	11.37:g.4903750C>A	ENSP00000322679:p.Tyr207*					OR51T1_ENST00000322049.1_Nonsense_Mutation_p.Y207*|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.Y234*	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	702	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	207					Q6IFH9	Nonsense_Mutation	SNP	ENST00000322049.1	37	c.702C>A		.	.	.	.	.	.	.	.	.	.	C	9.843	1.191461	0.21954	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	.	.	.	4.99	0.175	0.15045	.	0.188886	0.26116	N	0.026252	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2814	0.31902	0.0:0.551:0.0:0.449	.	.	.	.	X	234;207	.	ENSP00000322679:Y207X	Y	+	3	2	OR51T1	4860326	0.000000	0.05858	0.883000	0.34634	0.064000	0.16182	-2.401000	0.01048	0.157000	0.19338	0.484000	0.47621	TAC		0.443	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		7	94	1	0	0.00198382	1	0.00216905	7	94				
BAI3	577	broad.mit.edu	37	6	69703759	69703759	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:69703759T>C	ENST00000370598.1	+	11	2655	c.1834T>C	c.(1834-1836)Tat>Cat	p.Y612H		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	612					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAAAAATTTCTATGCAGGCGA	0.458																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(1834-1836)Tat>Cat		brain-specific angiogenesis inhibitor 3							145.0	153.0	150.0					6																	69703759		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69703759T>C	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1834T>C	6.37:g.69703759T>C	ENSP00000359630:p.Tyr612His						p.Y612H	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			11	2655	+		all_lung(197;0.212)	612					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.1834T>C	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.855661	0.91355	.	.	ENSG00000135298	ENST00000370598	T	0.11495	2.77	6.05	6.05	0.98169	Domain of unknown function DUF3497 (1);	0.141176	0.49305	D	0.000154	T	0.24314	0.0589	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.00939	-1.1507	10	0.87932	D	0	.	16.5932	0.84781	0.0:0.0:0.0:1.0	.	612	O60242	BAI3_HUMAN	H	612	ENSP00000359630:Y612H	ENSP00000359630:Y612H	Y	+	1	0	BAI3	69760480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.015000	0.88690	2.320000	0.78422	0.528000	0.53228	TAT		0.458	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			28	148	0	0	0	1	0	28	148				
PRSS58	136541	broad.mit.edu	37	7	141954934	141954934	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:141954934G>T	ENST00000552471.1	-	3	696	c.377C>A	c.(376-378)aCt>aAt	p.T126N	PRSS58_ENST00000547058.2_Missense_Mutation_p.T126N			Q8IYP2	PRS58_HUMAN	protease, serine, 58	126	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TTCAGAGATAGTTTGGTAGGG	0.403																																						ENST00000552471.1																			0				kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(376-378)aCt>aAt		protease, serine, 58							254.0	230.0	238.0					7																	141954934		2203	4300	6503	SO:0001583	missense	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141954934G>T		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.377C>A	7.37:g.141954934G>T	ENSP00000446916:p.Thr126Asn					PRSS58_ENST00000547058.2_Missense_Mutation_p.T126N	p.T126N			Q8IYP2	PRS58_HUMAN			3	696	-			126			Peptidase S1.		B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	c.377C>A	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.692307	0.30052	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.88664	-2.41;-2.41	5.04	-1.74	0.08056	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.73621	0.3610	N	0.11789	0.175	0.09310	N	1	B	0.20887	0.049	B	0.18263	0.021	T	0.61686	-0.7012	9	0.72032	D	0.01	.	1.0825	0.01646	0.2343:0.173:0.423:0.1697	.	126	Q8IYP2	PRS58_HUMAN	N	126	ENSP00000447588:T126N;ENSP00000446916:T126N	ENSP00000307206:T126N	T	-	2	0	PRSS58	141601411	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.292000	0.19011	-0.134000	0.11516	0.655000	0.94253	ACT		0.403	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		9	164	1	0	5.4927e-09	1	7.57356e-09	9	164				
CNTNAP2	26047	broad.mit.edu	37	7	147964138	147964138	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:147964138C>A	ENST00000361727.3	+	21	3911	c.3395C>A	c.(3394-3396)cCt>cAt	p.P1132H	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.P191H	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1132	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GATCATTATCCTTCTGTGAGT	0.458										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(3394-3396)cCt>cAt		contactin associated protein-like 2							216.0	180.0	193.0					7																	147964138		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147964138C>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3395C>A	7.37:g.147964138C>A	ENSP00000354778:p.Pro1132His	HNSCC(39;0.1)				CNTNAP2_ENST00000538075.1_Missense_Mutation_p.P191H	p.P1132H	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		21	3911	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	1132			Laminin G-like 4.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.3395C>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276243	0.40294	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	T;T	0.80123	-1.34;-1.34	5.54	5.54	0.83059	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.068156	0.64402	D	0.000013	D	0.83207	0.5204	M	0.63428	1.95	0.36977	D	0.894126	P	0.42010	0.768	P	0.47864	0.559	D	0.86994	0.2112	10	0.59425	D	0.04	.	14.9735	0.71251	0.0:1.0:0.0:0.0	.	1132	Q9UHC6	CNTP2_HUMAN	H	1132;191	ENSP00000354778:P1132H;ENSP00000440732:P191H	ENSP00000354778:P1132H	P	+	2	0	CNTNAP2	147595071	0.993000	0.37304	0.871000	0.34182	0.287000	0.27160	4.128000	0.57951	2.609000	0.88269	0.655000	0.94253	CCT		0.458	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			16	100	1	0	4.75885e-15	1	7.26871e-15	16	100				
OR2T8	343172	broad.mit.edu	37	1	248085145	248085145	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:248085145T>G	ENST00000319968.4	+	1	826	c.826T>G	c.(826-828)Tat>Gat	p.Y276D		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTCAGCCTTCTATACTATGTT	0.493																																						ENST00000319968.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(826-828)Tat>Gat		olfactory receptor, family 2, subfamily T, member 8							130.0	121.0	124.0					1																	248085145		2203	4298	6501	SO:0001583	missense	343172				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248085145T>G		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.826T>G	1.37:g.248085145T>G	ENSP00000326225:p.Tyr276Asp						p.Y276D	NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	826	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	276						Missense_Mutation	SNP	ENST00000319968.4	37	c.826T>G	CCDS31100.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.398057	0.42512	.	.	ENSG00000177462	ENST00000319968	T	0.00321	8.11	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30630	U	0.009219	T	0.00936	0.0031	M	0.94142	3.5	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.12167	-1.0558	10	0.87932	D	0	.	11.5972	0.50981	0.0:0.0:0.0:1.0	.	276	A6NH00	OR2T8_HUMAN	D	276	ENSP00000326225:Y276D	ENSP00000326225:Y276D	Y	+	1	0	OR2T8	246151768	0.498000	0.26075	0.009000	0.14445	0.107000	0.19398	2.528000	0.45624	1.396000	0.46663	0.332000	0.21555	TAT		0.493	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		14	184	0	0	0	1	0	14	184				
EPPK1	83481	broad.mit.edu	37	8	144942260	144942260	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:144942260G>A	ENST00000525985.1	-	2	5233	c.5162C>T	c.(5161-5163)cCc>cTc	p.P1721L				P58107	EPIPL_HUMAN	epiplakin 1	1721						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCGTCGCTGGGGTCCGCCAG	0.667																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(5161-5163)cCc>cTc		epiplakin 1							89.0	94.0	92.0					8																	144942260		2092	4200	6292	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144942260G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5162C>T	8.37:g.144942260G>A	ENSP00000436337:p.Pro1721Leu						p.P1721L			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	5233	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1721					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.5162C>T		.	.	.	.	.	.	.	.	.	.	G	16.23	3.065601	0.55539	.	.	ENSG00000227184	ENST00000525985	T	0.74106	-0.81	4.84	3.96	0.45880	.	.	.	.	.	D	0.87047	0.6080	M	0.90922	3.16	0.49687	D	0.99981	D	0.69078	0.997	D	0.69142	0.962	D	0.87718	0.2571	9	0.40728	T	0.16	.	12.2846	0.54786	0.0:0.0:0.8293:0.1707	.	1721	E9PPU0	.	L	1721	ENSP00000436337:P1721L	ENSP00000436337:P1721L	P	-	2	0	EPPK1	145014248	1.000000	0.71417	0.633000	0.29310	0.023000	0.10783	7.665000	0.83852	1.236000	0.43740	0.591000	0.81541	CCC		0.667	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		19	90	0	0	0	1	0	19	90				
TRPM2	7226	broad.mit.edu	37	21	45786768	45786768	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:45786768G>T	ENST00000397928.1	+	4	1000	c.555G>T	c.(553-555)cgG>cgT	p.R185R	TRPM2_ENST00000300481.9_Silent_p.R185R|TRPM2_ENST00000300482.5_Silent_p.R185R|TRPM2_ENST00000397932.2_Silent_p.R185R	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	185					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGAAGCCGCGGCTGAAGAGCA	0.632																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(553-555)cgG>cgT		transient receptor potential cation channel, subfamily M, member 2							35.0	34.0	34.0					21																	45786768		2203	4300	6503	SO:0001819	synonymous_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45786768G>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.555G>T	21.37:g.45786768G>T						TRPM2_ENST00000397932.2_Silent_p.R185R|TRPM2_ENST00000300481.9_Silent_p.R185R|TRPM2_ENST00000300482.5_Silent_p.R185R	p.R185R	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			4	1000	+			185					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.555G>T	CCDS13710.1																																																																																				0.632	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		6	44	1	0	0.00198382	1	0.00216905	6	44				
FAM73B	84895	broad.mit.edu	37	9	131825526	131825526	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:131825526G>A	ENST00000358369.4	+	10	1240	c.1014G>A	c.(1012-1014)acG>acA	p.T338T	FAM73B_ENST00000406926.2_Intron|FAM73B_ENST00000277475.5_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	338					bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						CCCTCAGGACGGAGCTGCTGG	0.692																																						ENST00000358369.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						c.(1012-1014)acG>acA		family with sequence similarity 73, member B							67.0	55.0	59.0					9																	131825526		2203	4300	6503	SO:0001819	synonymous_variant	84895					integral to membrane		g.chr9:131825526G>A	AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 54"""	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.1014G>A	9.37:g.131825526G>A						FAM73B_ENST00000406926.2_Intron|FAM73B_ENST00000277475.5_3'UTR	p.T338T	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN			10	1240	+			338					Q8NBM3|Q8TEJ6|Q969E6	Silent	SNP	ENST00000358369.4	37	c.1014G>A	CCDS6917.1																																																																																				0.692	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054542.7	NM_032809		5	51	0	0	0	1	0	5	51				
PACSIN3	29763	broad.mit.edu	37	11	47200530	47200530	+	Missense_Mutation	SNP	G	G	A	rs113148315		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:47200530G>A	ENST00000539589.1	-	9	1294	c.952C>T	c.(952-954)Cgg>Tgg	p.R318W	ARFGAP2_ENST00000426335.2_5'Flank|ARFGAP2_ENST00000319543.6_5'Flank|ARFGAP2_ENST00000395449.3_5'Flank|ARFGAP2_ENST00000419701.2_5'Flank|ARFGAP2_ENST00000524782.1_5'Flank|PACSIN3_ENST00000298838.6_Missense_Mutation_p.R318W	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	318					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endocytosis (GO:0045806)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|cytoskeletal protein binding (GO:0008092)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						TCAGGGCTCCGGCCACCCTTC	0.612																																						ENST00000539589.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						c.(952-954)Cgg>Tgg		protein kinase C and casein kinase substrate in neurons 3		G	TRP/ARG,TRP/ARG,TRP/ARG	0,4402		0,0,2201	144.0	138.0	140.0		952,952,952	5.6	1.0	11	dbSNP_132	140	1,8595		0,1,4297	no	missense,missense,missense	PACSIN3	NM_001184974.1,NM_001184975.1,NM_016223.4	101,101,101	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	318/425,318/425,318/425	47200530	1,12997	2201	4298	6499	SO:0001583	missense	29763				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding	g.chr11:47200530G>A	AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912			8572	protein-coding gene	gene with protein product	"""syndapin III"""	606513				10531379	Standard	NM_016223		Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.952C>T	11.37:g.47200530G>A	ENSP00000440945:p.Arg318Trp					PACSIN3_ENST00000298838.6_Missense_Mutation_p.R318W	p.R318W	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN			9	1294	-			318					A6NH84|Q9H331|Q9NWV9	Missense_Mutation	SNP	ENST00000539589.1	37	c.952C>T	CCDS31481.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.472153|4.472153	0.84533|0.84533	0.0|0.0	1.16E-4|1.16E-4	ENSG00000165912|ENSG00000165912	ENST00000533686|ENST00000298838;ENST00000539589;ENST00000528462	.|T;T;T	.|0.31247	.|1.5;1.5;1.5	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.197024	.|0.41396	.|D	.|0.000896	T|T	0.37128|0.37128	0.0992|0.0992	L|L	0.46157|0.46157	1.445|1.445	0.44214|0.44214	D|D	0.997042|0.997042	.|D	.|0.63880	.|0.993	.|P	.|0.50352	.|0.638	T|T	0.09400|0.09400	-1.0676|-1.0676	6|10	0.66056|0.72032	D|D	0.02|0.01	-32.5948|-32.5948	13.0263|13.0263	0.58817|0.58817	0.0:0.0:0.7355:0.2645|0.0:0.0:0.7355:0.2645	.|.	.|318	.|Q9UKS6	.|PACN3_HUMAN	L|W	40|318	.|ENSP00000298838:R318W;ENSP00000440945:R318W;ENSP00000437252:R318W	ENSP00000431948:P318L|ENSP00000298838:R318W	P|R	-|-	2|1	0|2	PACSIN3|PACSIN3	47157106|47157106	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.368000|4.368000	0.59505|0.59505	2.813000|2.813000	0.96785|0.96785	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.612	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391632.1	NM_016223		22	108	0	0	0	1	0	22	108				
KIAA1324L	222223	broad.mit.edu	37	7	86541495	86541495	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:86541495C>T	ENST00000450689.2	-	15	2247	c.2062G>A	c.(2062-2064)Gac>Aac	p.D688N	KIAA1324L_ENST00000490995.1_5'Flank|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.D521N|KIAA1324L_ENST00000444627.1_Intron|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.D448N	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	688						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TTGCTAAAGTCATAGTGCAAA	0.378																																						ENST00000450689.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2062-2064)Gac>Aac		KIAA1324-like							135.0	135.0	135.0					7																	86541495		2203	4300	6503	SO:0001583	missense	222223					integral to membrane		g.chr7:86541495C>T	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2062G>A	7.37:g.86541495C>T	ENSP00000413445:p.Asp688Asn					KIAA1324L_ENST00000416314.1_Missense_Mutation_p.D521N|KIAA1324L_ENST00000444627.1_Intron|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.D448N	p.D688N	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN			15	2247	-	Esophageal squamous(14;0.0058)		688					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2062G>A	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654053	0.29425	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000416314	T;T;T	0.15017	2.46;2.46;2.46	6.02	6.02	0.97574	Mannose-6-phosphate receptor, binding (1);	0.087897	0.85682	D	0.000000	T	0.13200	0.0320	L	0.41906	1.305	0.58432	D	0.999999	B;B;B	0.26258	0.145;0.054;0.031	B;B;B	0.26614	0.071;0.058;0.026	T	0.07424	-1.0773	10	0.08179	T	0.78	.	10.8535	0.46784	0.0:0.8576:0.0:0.1424	.	688;448;521	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	N	688;448;521	ENSP00000413445:D688N;ENSP00000297222:D448N;ENSP00000402390:D521N	ENSP00000297222:D448N	D	-	1	0	KIAA1324L	86379431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.007000	0.49536	2.857000	0.98124	0.650000	0.86243	GAC		0.378	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		19	101	0	0	0	1	0	19	101				
RB1CC1	9821	broad.mit.edu	37	8	53573696	53573696	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:53573696C>T	ENST00000025008.5	-	10	2027	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	RB1CC1_ENST00000539297.1_Missense_Mutation_p.E502K|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.E502K	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	502					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTTACAACCTCAACAACAGCT	0.358																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(1504-1506)Gag>Aag		RB1-inducible coiled-coil 1							102.0	98.0	100.0					8																	53573696		2203	4300	6503	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53573696C>T	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1504G>A	8.37:g.53573696C>T	ENSP00000025008:p.Glu502Lys					RB1CC1_ENST00000435644.2_Missense_Mutation_p.E502K|RB1CC1_ENST00000539297.1_Missense_Mutation_p.E502K|RB1CC1_ENST00000521611.1_Intron	p.E502K	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			10	2027	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	502					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.1504G>A	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169368	0.78339	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.57273	0.42;0.41;0.41	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.76435	0.3987	M	0.82716	2.605	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	T	0.79200	-0.1901	10	0.87932	D	0	-18.1675	19.7845	0.96430	0.0:1.0:0.0:0.0	.	502;502	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	K	502	ENSP00000025008:E502K;ENSP00000396067:E502K;ENSP00000445960:E502K	ENSP00000025008:E502K	E	-	1	0	RB1CC1	53736249	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.752000	0.85141	2.744000	0.94065	0.585000	0.79938	GAG		0.358	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		24	76	0	0	0	1	0	24	76				
XIRP2	129446	broad.mit.edu	37	2	168105908	168105908	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:168105908C>T	ENST00000409195.1	+	9	8095	c.8006C>T	c.(8005-8007)tCc>tTc	p.S2669F	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2669F|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2447F|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2494					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATTATGCAATCCAAATCAGCT	0.408																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(8005-8007)tCc>tTc		xin actin-binding repeat containing 2							55.0	55.0	55.0					2																	168105908		1880	4092	5972	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105908C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8006C>T	2.37:g.168105908C>T	ENSP00000386840:p.Ser2669Phe					XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2669F|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2447F|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	p.S2669F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	8095	+			2494					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.8006C>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951773	0.34471	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02787	4.16;4.16;4.16	6.07	2.95	0.34219	.	0.689823	0.14599	N	0.309734	T	0.04452	0.0122	M	0.63428	1.95	0.09310	N	1	P;P;P	0.49090	0.61;0.73;0.919	B;B;B	0.43155	0.233;0.41;0.41	T	0.37549	-0.9701	10	0.62326	D	0.03	-3.7453	5.2928	0.15737	0.1374:0.5413:0.2427:0.0787	.	2494;2494;2447	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	F	2669;2669;2447;83	ENSP00000386840:S2669F;ENSP00000295237:S2669F;ENSP00000387255:S2447F	ENSP00000295237:S2669F	S	+	2	0	XIRP2	167814154	0.000000	0.05858	0.011000	0.14972	0.939000	0.58152	0.187000	0.16998	0.853000	0.35312	0.655000	0.94253	TCC		0.408	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		15	67	0	0	0	1	0	15	67				
CNTNAP3B	728577	broad.mit.edu	37	9	43709755	43709755	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:43709755G>C	ENST00000377564.3	+	2	584	c.191G>C	c.(190-192)aGa>aCa	p.R64T	CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.R64T	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	64	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTTAATCGAAGAGATGGTGAG	0.458																																						ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(190-192)aGa>aCa		contactin associated protein-like 3B																																				SO:0001583	missense	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43709755G>C	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.191G>C	9.37:g.43709755G>C	ENSP00000366787:p.Arg64Thr					CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.R64T	p.R64T	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			2	584	+			64			F5/8 type C.		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Missense_Mutation	SNP	ENST00000377564.3	37	c.191G>C	CCDS55312.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.98|16.98	3.271832|3.271832	0.59649|0.59649	.|.	.|.	ENSG00000154529|ENSG00000154529	ENST00000377561|ENST00000377564;ENST00000276974;ENST00000341990;ENST00000403166	.|D;D	.|0.97994	.|-4.65;-4.65	2.33|2.33	2.33|2.33	0.28932|0.28932	.|.	.|.	.|.	.|.	.|.	D|D	0.97043|0.97043	0.9034|0.9034	M|M	0.66297|0.66297	2.02|2.02	0.31848|0.31848	N|N	0.622593|0.622593	.|.	.|.	.|.	.|.	.|.	.|.	D|D	0.96760|0.96760	0.9560|0.9560	5|7	.|0.59425	.|D	.|0.04	.|.	8.1761|8.1761	0.31283|0.31283	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	Q|T	113|64	.|ENSP00000366787:R64T;ENSP00000276974:R64T	.|ENSP00000276974:R64T	E|R	+|+	1|2	0|0	CNTNAP3B|CNTNAP3B	43649751|43649751	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.979000|0.979000	0.70002|0.70002	6.117000|6.117000	0.71577|0.71577	1.291000|1.291000	0.44653|0.44653	0.531000|0.531000	0.56144|0.56144	GAG|AGA		0.458	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			8	33	0	0	0	1	0	8	33				
ALDH3B2	222	broad.mit.edu	37	11	67431900	67431900	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:67431900G>A	ENST00000349015.3	-	8	1278	c.840C>T	c.(838-840)ccC>ccT	p.P280P	ALDH3B2_ENST00000530069.1_Silent_p.P280P|ALDH3B2_ENST00000531881.1_5'Flank	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	280					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						ACAGGGCCAGGGGCTTCTCCT	0.627																																						ENST00000349015.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						c.(838-840)ccC>ccT		aldehyde dehydrogenase 3 family, member B2	NADH(DB00157)						120.0	111.0	114.0					11																	67431900		2200	4294	6494	SO:0001819	synonymous_variant	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67431900G>A	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.840C>T	11.37:g.67431900G>A						ALDH3B2_ENST00000530069.1_Silent_p.P280P	p.P280P	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN			8	1278	-			280					Q53Y98|Q8NAL5|Q96IB2	Silent	SNP	ENST00000349015.3	37	c.840C>T	CCDS31622.1	.	.	.	.	.	.	.	.	.	.	G	9.063	0.995085	0.19043	.	.	ENSG00000132746	ENST00000531248	T	0.29142	1.58	3.72	-2.31	0.06765	.	0.066408	0.64402	U	0.000009	T	0.30070	0.0753	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.16719	-1.0393	7	0.87932	D	0	.	1.7569	0.02984	0.1698:0.1145:0.2948:0.4209	.	.	.	.	S	51	ENSP00000435476:P51S	ENSP00000435476:P51S	P	-	1	0	ALDH3B2	67188476	0.000000	0.05858	0.964000	0.40570	0.813000	0.45954	-3.254000	0.00538	-0.582000	0.05929	0.561000	0.74099	CCT		0.627	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		19	142	0	0	0	1	0	19	142				
SPIB	6689	broad.mit.edu	37	19	50926091	50926091	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:50926091G>C	ENST00000595883.1	+	4	161	c.136G>C	c.(136-138)Gac>Cac	p.D46H	SPIB_ENST00000597855.1_Missense_Mutation_p.D46H|CTD-2545M3.6_ENST00000599632.1_Missense_Mutation_p.G180A|SPIB_ENST00000270632.7_Missense_Mutation_p.D46H|SPIB_ENST00000596074.1_Intron|SPIB_ENST00000439922.2_Intron	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	46	TAD2.				cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.D46Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CTCCCTGTGGGACTGGACTGT	0.647																																						ENST00000595883.1																			1	Substitution - Missense(1)	p.D46Y(1)	lung(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14						c.(136-138)Gac>Cac		Spi-B transcription factor (Spi-1/PU.1 related)							45.0	55.0	51.0					19																	50926091		2203	4300	6503	SO:0001583	missense	6689				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	g.chr19:50926091G>C		CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.136G>C	19.37:g.50926091G>C	ENSP00000471921:p.Asp46His					SPIB_ENST00000439922.2_Intron|SPIB_ENST00000597855.1_Missense_Mutation_p.D46H|SPIB_ENST00000270632.7_Missense_Mutation_p.D46H|SPIB_ENST00000596074.1_Intron	p.D46H	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	4	161	+		all_neural(266;0.131)	46			TAD2.		A8K9C9|B4DUG6|Q15359	Missense_Mutation	SNP	ENST00000595883.1	37	c.136G>C	CCDS33080.1	.	.	.	.	.	.	.	.	.	.	.	12.06	1.824331	0.32237	.	.	ENSG00000142539	ENST00000270632	T	0.47177	0.85	5.25	1.83	0.25207	.	0.646760	0.13596	N	0.376218	T	0.26521	0.0648	N	0.19112	0.55	0.80722	D	1	P;B	0.42871	0.792;0.41	B;B	0.38194	0.267;0.088	T	0.04467	-1.0949	10	0.39692	T	0.17	-5.5903	3.5917	0.07991	0.2142:0.0:0.5873:0.1985	.	46;46	Q01892-2;Q01892	.;SPIB_HUMAN	H	46	ENSP00000270632:D46H	ENSP00000270632:D46H	D	+	1	0	SPIB	55617903	1.000000	0.71417	0.996000	0.52242	0.909000	0.53808	1.221000	0.32503	0.652000	0.30806	0.655000	0.94253	GAC		0.647	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464744.1	NM_003121		10	69	0	0	0	1	0	10	69				
PTK7	5754	broad.mit.edu	37	6	43100272	43100272	+	Missense_Mutation	SNP	G	G	A	rs148069775		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:43100272G>A	ENST00000230419.4	+	7	1296	c.1075G>A	c.(1075-1077)Gcg>Acg	p.A359T	PTK7_ENST00000349241.2_Missense_Mutation_p.A359T|PTK7_ENST00000352931.2_Missense_Mutation_p.A359T|PTK7_ENST00000471863.1_Missense_Mutation_p.A359T|PTK7_ENST00000481273.1_Missense_Mutation_p.A367T|PTK7_ENST00000345201.2_Missense_Mutation_p.A359T	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	359	Ig-like C2-type 4.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GTGGGAGCACGCGGGAGTCCG	0.627																																						ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1075-1077)Gcg>Acg		protein tyrosine kinase 7		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	41.0	41.0	41.0		1075,1075,1075,1075	4.1	0.0	6	dbSNP_134	41	0,8600		0,0,4300	no	missense,missense,missense,missense	PTK7	NM_002821.3,NM_152880.2,NM_152881.2,NM_152882.2	58,58,58,58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign,benign,benign	359/1071,359/1031,359/941,359/1015	43100272	2,13004	2203	4300	6503	SO:0001583	missense	5754				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43100272G>A	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1075G>A	6.37:g.43100272G>A	ENSP00000230419:p.Ala359Thr					PTK7_ENST00000352931.2_Missense_Mutation_p.A359T|PTK7_ENST00000349241.2_Missense_Mutation_p.A359T|PTK7_ENST00000345201.2_Missense_Mutation_p.A359T|PTK7_ENST00000471863.1_Missense_Mutation_p.A359T|PTK7_ENST00000481273.1_Missense_Mutation_p.A367T	p.A359T	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		7	1296	+			359			Ig-like C2-type 4.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.1075G>A	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333082	0.41297	4.54E-4	0.0	ENSG00000112655	ENST00000230419;ENST00000325774;ENST00000471863;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000481946	T;T;T;T;T;T;T	0.79454	-1.07;-1.27;-0.62;-0.84;-0.84;-1.07;-1.27	5.01	4.13	0.48395	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.384390	0.28393	N	0.015510	T	0.56673	0.2001	L	0.40543	1.245	0.09310	N	1	B;D;P;B;P;B;P	0.62365	0.042;0.991;0.56;0.145;0.589;0.283;0.769	B;P;B;B;B;B;B	0.51193	0.029;0.662;0.216;0.102;0.157;0.164;0.322	T	0.49781	-0.8903	10	0.23891	T	0.37	.	4.9087	0.13811	0.1305:0.0:0.6642:0.2053	.	367;35;359;359;359;359;359	E9PFZ5;F8W9X8;Q13308-3;Q13308-2;Q13308-4;Q13308;Q86X91	.;.;.;.;.;PTK7_HUMAN;.	T	359;35;359;359;359;359;367;112	ENSP00000230419:A359T;ENSP00000419037:A359T;ENSP00000325462:A359T;ENSP00000326029:A359T;ENSP00000325992:A359T;ENSP00000418754:A367T;ENSP00000420165:A112T	ENSP00000230418:A359T	A	+	1	0	PTK7	43208250	0.524000	0.26282	0.045000	0.18777	0.769000	0.43574	3.955000	0.56715	1.093000	0.41377	0.462000	0.41574	GCG		0.627	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			17	30	0	0	0	1	0	17	30				
SCN11A	11280	broad.mit.edu	37	3	38945426	38945426	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:38945426G>T	ENST00000302328.3	-	12	1970	c.1772C>A	c.(1771-1773)aCt>aAt	p.T591N	SCN11A_ENST00000444237.2_Missense_Mutation_p.T591N|SCN11A_ENST00000450244.1_Missense_Mutation_p.T591N|SCN11A_ENST00000456224.3_Missense_Mutation_p.T591N	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	591					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAAGAAGACAGTGTTGATGAT	0.433																																						ENST00000450244.1																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(1771-1773)aCt>aAt		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						142.0	124.0	130.0					3																	38945426		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38945426G>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1772C>A	3.37:g.38945426G>T	ENSP00000307599:p.Thr591Asn					SCN11A_ENST00000456224.3_Missense_Mutation_p.T591N|SCN11A_ENST00000302328.3_Missense_Mutation_p.T591N|SCN11A_ENST00000444237.2_Missense_Mutation_p.T591N	p.T591N			Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	12	1970	-			591					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.1772C>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102522	0.76983	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.97553	-4.43;-4.43;-4.43;-4.43	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.98795	0.9594	M	0.90922	3.16	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.99701	1.1004	10	0.87932	D	0	.	18.1527	0.89679	0.0:0.0:1.0:0.0	.	591	Q9UI33	SCNBA_HUMAN	N	591	ENSP00000307599:T591N;ENSP00000400945:T591N;ENSP00000416757:T591N;ENSP00000408028:T591N	ENSP00000307599:T591N	T	-	2	0	SCN11A	38920430	1.000000	0.71417	0.950000	0.38849	0.942000	0.58702	9.809000	0.99208	2.628000	0.89032	0.585000	0.79938	ACT		0.433	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		17	47	1	0	1.15088e-07	1	1.50471e-07	17	47				
DPPA4	55211	broad.mit.edu	37	3	109050613	109050613	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:109050613G>T	ENST00000335658.6	-	4	412	c.358C>A	c.(358-360)Cgc>Agc	p.R120S	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	120					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GCACACAGGCGCTTATATGCA	0.433																																						ENST00000335658.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(358-360)Cgc>Agc		developmental pluripotency associated 4							108.0	103.0	105.0					3																	109050613		2203	4300	6503	SO:0001583	missense	55211					nucleus	protein binding	g.chr3:109050613G>T	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.358C>A	3.37:g.109050613G>T	ENSP00000335306:p.Arg120Ser					DPPA4_ENST00000478791.1_5'UTR	p.R120S	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN			4	412	-			120					A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	ENST00000335658.6	37	c.358C>A	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383944	0.42308	.	.	ENSG00000121570	ENST00000335658	T	0.71698	-0.59	4.32	0.0346	0.14184	.	0.000000	0.47455	D	0.000222	T	0.79305	0.4423	M	0.67700	2.07	0.09310	N	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.931;0.999;0.931	T	0.71148	-0.4677	9	.	.	.	-25.2413	11.592	0.50951	0.0:0.0:0.3212:0.6788	.	110;120;120	B7Z5Q7;B7Z595;Q7L190	.;.;DPPA4_HUMAN	S	120	ENSP00000335306:R120S	.	R	-	1	0	DPPA4	110533303	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	-0.284000	0.08422	-0.005000	0.14395	0.650000	0.86243	CGC		0.433	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		13	115	1	0	0.000151284	1	0.000174376	13	115				
TMC5	79838	broad.mit.edu	37	16	19451506	19451506	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:19451506G>T	ENST00000396229.2	+	3	895	c.146G>T	c.(145-147)gGc>gTc	p.G49V	TMC5_ENST00000381414.4_Missense_Mutation_p.G49V|TMC5_ENST00000541464.1_Missense_Mutation_p.G49V|TMC5_ENST00000542583.2_Missense_Mutation_p.G49V	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	49					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GACTACCCCGGCACCAGGAGC	0.493																																						ENST00000396229.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(145-147)gGc>gTc		transmembrane channel-like 5							92.0	91.0	91.0					16																	19451506		1891	4112	6003	SO:0001583	missense	79838					integral to membrane		g.chr16:19451506G>T	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.146G>T	16.37:g.19451506G>T	ENSP00000379531:p.Gly49Val					TMC5_ENST00000541464.1_Missense_Mutation_p.G49V|TMC5_ENST00000542583.2_Missense_Mutation_p.G49V|TMC5_ENST00000381414.4_Missense_Mutation_p.G49V	p.G49V	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			3	895	+			49					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.146G>T	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	G	6.750	0.507234	0.12883	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583	T;T;T;T	0.67865	-0.26;-0.08;-0.29;-0.29	5.17	-1.89	0.07689	.	422.523000	0.00166	N	0.000000	T	0.55194	0.1905	L	0.55990	1.75	0.09310	N	1	B;B;B	0.28998	0.052;0.071;0.23	B;B;B	0.27170	0.035;0.023;0.077	T	0.10359	-1.0633	10	0.19590	T	0.45	0.2658	1.1995	0.01882	0.1645:0.2712:0.3024:0.2619	.	49;49;49	F5GYU8;Q6UXY8;Q6UXY8-2	.;TMC5_HUMAN;.	V	49	ENSP00000441227:G49V;ENSP00000370822:G49V;ENSP00000379531:G49V;ENSP00000446274:G49V	ENSP00000370822:G49V	G	+	2	0	TMC5	19359007	0.019000	0.18553	0.000000	0.03702	0.010000	0.07245	0.771000	0.26633	-0.182000	0.10602	0.655000	0.94253	GGC		0.493	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		17	93	1	0	7.07596e-05	1	8.23829e-05	17	93				
APC2	10297	broad.mit.edu	37	19	1460307	1460307	+	Missense_Mutation	SNP	C	C	A	rs150932990		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:1460307C>A	ENST00000535453.1	+	10	3144	c.1431C>A	c.(1429-1431)gaC>gaA	p.D477E	CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000238483.4_Missense_Mutation_p.D203E|APC2_ENST00000233607.2_Missense_Mutation_p.D477E			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTTGGGGACGTTGCCAACA	0.617																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(1429-1431)gaC>gaA		adenomatosis polyposis coli 2							60.0	58.0	59.0					19																	1460307		2203	4300	6503	SO:0001583	missense	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1460307C>A		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.1431C>A	19.37:g.1460307C>A	ENSP00000442954:p.Asp477Glu					CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000238483.4_Missense_Mutation_p.D203E|APC2_ENST00000233607.2_Missense_Mutation_p.D477E	p.D477E			O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	10	3144	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	477					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	c.1431C>A	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833233	0.50951	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	T;D;T	0.90620	-0.28;-2.7;-0.28	4.16	-4.77	0.03219	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88833	0.6544	M	0.64567	1.98	0.80722	D	1	P;P	0.45902	0.868;0.792	P;P	0.51385	0.668;0.467	D	0.84511	0.0622	10	0.87932	D	0	-35.0251	6.9436	0.24506	0.1159:0.3521:0.0:0.532	.	476;477	O95996-3;O95996	.;APC2_HUMAN	E	477;203;477	ENSP00000233607:D477E;ENSP00000238483:D203E;ENSP00000442954:D477E	ENSP00000233607:D477E	D	+	3	2	APC2	1411307	0.000000	0.05858	0.175000	0.22980	0.707000	0.40811	-3.219000	0.00553	-1.091000	0.03065	-1.119000	0.02030	GAC		0.617	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		15	67	1	0	1.3612e-06	1	1.71317e-06	15	67				
AKAP10	11216	broad.mit.edu	37	17	19843111	19843111	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:19843111C>T	ENST00000225737.6	-	8	1394	c.1237G>A	c.(1237-1239)Gat>Aat	p.D413N	AKAP10_ENST00000395536.3_Missense_Mutation_p.D413N	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	413	RGS 2. {ECO:0000255|PROSITE- ProRule:PRU00171}.				blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TGGAAGTTATCTGCTGCCAAC	0.373																																						ENST00000225737.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1237-1239)Gat>Aat		A kinase (PRKA) anchor protein 10							103.0	102.0	103.0					17																	19843111		2203	4300	6503	SO:0001583	missense	11216				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity	g.chr17:19843111C>T	AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"""A-kinase anchor proteins"""	368	protein-coding gene	gene with protein product	"""dual-specificity A-kinase anchoring protein 2"", ""protein kinase A anchoring protein 10"", ""mitochondrial A kinase PPKA anchor protein 10"""	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.1237G>A	17.37:g.19843111C>T	ENSP00000225737:p.Asp413Asn					AKAP10_ENST00000395536.3_Missense_Mutation_p.D413N	p.D413N	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN			8	1394	-	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)		413			RGS 2.		B2R650|Q96AJ7	Missense_Mutation	SNP	ENST00000225737.6	37	c.1237G>A	CCDS11214.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154873	0.78114	.	.	ENSG00000108599	ENST00000225737;ENST00000395536	T	0.21932	1.98	5.7	5.7	0.88788	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.043916	0.85682	D	0.000000	T	0.29061	0.0722	L	0.31065	0.9	0.53688	D	0.999977	D;P;P	0.57571	0.98;0.86;0.933	P;P;P	0.54924	0.764;0.453;0.572	T	0.00636	-1.1633	10	0.27785	T	0.31	-10.9921	18.822	0.92100	0.0:1.0:0.0:0.0	.	413;413;413	E7EMD6;Q2XPN4;O43572	.;.;AKA10_HUMAN	N	413	ENSP00000225737:D413N	ENSP00000225737:D413N	D	-	1	0	AKAP10	19783703	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.416000	0.80143	2.700000	0.92200	0.563000	0.77884	GAT		0.373	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	NM_007202		7	47	0	0	0	1	0	7	47				
KIF4A	24137	broad.mit.edu	37	X	69606538	69606538	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:69606538G>A	ENST00000374403.3	+	19	2187	c.2105G>A	c.(2104-2106)cGt>cAt	p.R702H	KIF4A_ENST00000374388.3_Missense_Mutation_p.R702H	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	702	Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GTGCTCAGACGTAAAACGGAG	0.378																																						ENST00000374403.3																			0				breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2104-2106)cGt>cAt		kinesin family member 4A							81.0	74.0	77.0					X																	69606538		2203	4300	6503	SO:0001583	missense	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69606538G>A	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.2105G>A	X.37:g.69606538G>A	ENSP00000363524:p.Arg702His					KIF4A_ENST00000374388.3_Missense_Mutation_p.R702H	p.R702H	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN			19	2187	+			702			Interaction with PRC1.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	c.2105G>A	CCDS14401.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.362405|4.362405	0.82353|0.82353	.|.	.|.	ENSG00000090889|ENSG00000090889	ENST00000374388;ENST00000374403|ENST00000544650	T;T|.	0.25912|.	1.77;1.77|.	3.93|3.93	3.93|3.93	0.45458|0.45458	.|.	0.000000|.	0.53938|.	D|.	0.000045|.	T|T	0.78033|0.78033	0.4220|0.4220	M|M	0.88031|0.88031	2.925|2.925	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.79683|0.79683	-0.1701|-0.1701	10|6	0.87932|0.33940	D|T	0|0.23	.|.	14.0424|14.0424	0.64684|0.64684	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	702|.	O95239|.	KIF4A_HUMAN|.	H|I	702|5	ENSP00000363509:R702H;ENSP00000363524:R702H|.	ENSP00000363509:R702H|ENSP00000445028:V5I	R|V	+|+	2|1	0|0	KIF4A|KIF4A	69523263|69523263	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	8.717000|8.717000	0.91425|0.91425	1.936000|1.936000	0.56123|0.56123	0.468000|0.468000	0.43344|0.43344	CGT|GTA		0.378	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		14	14	0	0	0	1	0	14	14				
ZNF425	155054	broad.mit.edu	37	7	148801952	148801952	+	Silent	SNP	C	C	A	rs200855657		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:148801952C>A	ENST00000378061.2	-	4	1143	c.1011G>T	c.(1009-1011)cgG>cgT	p.R337R		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	337					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGCGGAAGCACCGGTCACACT	0.667																																						ENST00000378061.2																			0				breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(1009-1011)cgG>cgT		zinc finger protein 425							45.0	42.0	43.0					7																	148801952		2203	4300	6503	SO:0001819	synonymous_variant	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148801952C>A	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1011G>T	7.37:g.148801952C>A							p.R337R	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1143	-	Melanoma(164;0.15)		337					B3KPM1|Q08AG3	Silent	SNP	ENST00000378061.2	37	c.1011G>T	CCDS34773.1																																																																																				0.667	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		25	56	1	0	3.73808e-20	1	5.78615e-20	25	56				
PNPLA6	10908	broad.mit.edu	37	19	7619586	7619586	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:7619586G>T	ENST00000221249.6	+	24	2928	c.2497G>T	c.(2497-2499)Gac>Tac	p.D833Y	PNPLA6_ENST00000450331.3_Missense_Mutation_p.D833Y|PNPLA6_ENST00000600737.1_Missense_Mutation_p.D871Y|PNPLA6_ENST00000545201.2_Missense_Mutation_p.D806Y|PNPLA6_ENST00000414982.3_Missense_Mutation_p.D881Y	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	872					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GGGCCTGGGGGACCAGGAGCC	0.682																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(2497-2499)Gac>Tac		patatin-like phospholipase domain containing 6							44.0	44.0	44.0					19																	7619586		2203	4299	6502	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7619586G>T	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.2497G>T	19.37:g.7619586G>T	ENSP00000221249:p.Asp833Tyr					PNPLA6_ENST00000600737.1_Missense_Mutation_p.D871Y|PNPLA6_ENST00000414982.3_Missense_Mutation_p.D881Y|PNPLA6_ENST00000545201.2_Missense_Mutation_p.D806Y|PNPLA6_ENST00000450331.3_Missense_Mutation_p.D833Y	p.D833Y	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			24	2928	+			872					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.2497G>T	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	g	23.2	4.390982	0.82902	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	4.98	4.98	0.66077	.	0.101700	0.64402	D	0.000003	T	0.54191	0.1843	M	0.86268	2.805	0.80722	D	1	D;D;D;D	0.63046	0.987;0.992;0.992;0.984	P;D;D;P	0.65987	0.873;0.94;0.94;0.882	T	0.61486	-0.7053	10	0.87932	D	0	.	15.8384	0.78818	0.0:0.0:1.0:0.0	.	872;806;871;833	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	Y	833;806;881;833	ENSP00000221249:D833Y;ENSP00000443323:D806Y;ENSP00000407509:D881Y;ENSP00000394348:D833Y	ENSP00000221249:D833Y	D	+	1	0	PNPLA6	7525586	1.000000	0.71417	0.971000	0.41717	0.638000	0.38207	9.468000	0.97676	2.591000	0.87537	0.555000	0.69702	GAC		0.682	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		5	61	1	0	1	1	1	5	61				
OR5J2	282775	broad.mit.edu	37	11	55944461	55944461	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:55944461A>C	ENST00000312298.1	+	1	368	c.368A>C	c.(367-369)tAt>tCt	p.Y123S		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TATGACCGCTATGTGGCCATT	0.453																																						ENST00000312298.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44						c.(367-369)tAt>tCt		olfactory receptor, family 5, subfamily J, member 2							155.0	139.0	145.0					11																	55944461		2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944461A>C	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.368A>C	11.37:g.55944461A>C	ENSP00000310788:p.Tyr123Ser						p.Y123S	NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN			1	368	+	Esophageal squamous(21;0.00693)		123					Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.368A>C	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	A	13.49	2.253955	0.39896	.	.	ENSG00000174957	ENST00000312298	T	0.02067	4.47	4.67	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000111	T	0.14442	0.0349	H	0.95611	3.695	0.49213	D	0.999765	D	0.62365	0.991	P	0.59595	0.86	T	0.01188	-1.1424	10	0.87932	D	0	.	10.219	0.43186	0.8512:0.0:0.0:0.1488	.	123	Q8NH18	OR5J2_HUMAN	S	123	ENSP00000310788:Y123S	ENSP00000310788:Y123S	Y	+	2	0	OR5J2	55701037	0.988000	0.35896	0.815000	0.32552	0.028000	0.11728	3.033000	0.49743	1.902000	0.55061	0.475000	0.43553	TAT		0.453	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		15	100	0	0	0	1	0	15	100				
ZNF222	7673	broad.mit.edu	37	19	44536837	44536837	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:44536837G>T	ENST00000187879.8	+	4	1172	c.1010G>T	c.(1009-1011)gGa>gTa	p.G337V	ZNF222_ENST00000391960.3_Missense_Mutation_p.G377V|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				GTCCACACTGGAGAAAAGCCA	0.428																																						ENST00000187879.8																			0				endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(1009-1011)gGa>gTa		zinc finger protein 222							100.0	99.0	99.0					19																	44536837		2203	4300	6503	SO:0001583	missense	7673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44536837G>T	AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.1010G>T	19.37:g.44536837G>T	ENSP00000187879:p.Gly337Val					ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.G377V	p.G337V	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN			4	1172	+		Prostate(69;0.0435)	337					G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	SNP	ENST00000187879.8	37	c.1010G>T	CCDS33045.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540131	0.85917	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.23552	1.9;1.9	2.79	2.79	0.32731	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46698	0.1406	M	0.69358	2.11	0.54753	D	0.999989	D;D	0.89917	0.999;1.0	D;D	0.77004	0.969;0.989	T	0.51710	-0.8671	9	0.72032	D	0.01	.	12.7225	0.57149	0.0:0.0:1.0:0.0	.	377;337	G5E9B9;Q9UK12	.;ZN222_HUMAN	V	377;337;283	ENSP00000375822:G377V;ENSP00000187879:G337V	ENSP00000187879:G337V	G	+	2	0	ZNF222	49228677	1.000000	0.71417	0.967000	0.41034	0.723000	0.41478	4.061000	0.57485	1.531000	0.49152	0.205000	0.17691	GGA		0.428	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2			9	83	1	0	0.00448238	1	0.00481618	9	83				
ACAP3	116983	broad.mit.edu	37	1	1233269	1233269	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:1233269C>A	ENST00000354700.5	-	14	1263	c.1061G>T	c.(1060-1062)tGg>tTg	p.W354L	ACAP3_ENST00000379037.2_5'UTR|ACAP3_ENST00000353662.3_Missense_Mutation_p.W312L	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	354	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						AGCCTGGACCCAGGCTTGCCG	0.701																																						ENST00000354700.5																			0				endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1060-1062)tGg>tTg		ArfGAP with coiled-coil, ankyrin repeat and PH domains 3							52.0	53.0	53.0					1																	1233269		2195	4296	6491	SO:0001583	missense	116983				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr1:1233269C>A	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.1061G>T	1.37:g.1233269C>A	ENSP00000346733:p.Trp354Leu					ACAP3_ENST00000379037.2_5'UTR|ACAP3_ENST00000353662.3_Missense_Mutation_p.W312L	p.W354L	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN			14	1263	-			354			PH.		B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	ENST00000354700.5	37	c.1061G>T	CCDS19.2	.	.	.	.	.	.	.	.	.	.	c	17.93	3.508458	0.64410	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	D;D	0.97016	-4.21;-4.21	3.59	3.59	0.41128	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.98899	0.9627	H	0.98295	4.195	0.53688	D	0.999976	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.994	D	0.98985	1.0806	10	0.87932	D	0	.	16.5207	0.84315	0.0:1.0:0.0:0.0	.	354;312	Q96P50;Q96P50-1	ACAP3_HUMAN;.	L	354;312	ENSP00000346733:W354L;ENSP00000321139:W312L	ENSP00000321139:W312L	W	-	2	0	ACAP3	1223132	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.453000	0.80700	2.285000	0.76669	0.450000	0.29827	TGG		0.701	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649		8	43	1	0	0.0381472	1	0.0391651	8	43				
KLHL18	23276	broad.mit.edu	37	3	47384244	47384244	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:47384244G>A	ENST00000232766.5	+	9	1282	c.1262G>A	c.(1261-1263)aGt>aAt	p.S421N	KLHL18_ENST00000455924.2_Missense_Mutation_p.S309N	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	421										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TCGAATCGCAGTGCTGCTGGG	0.522																																						ENST00000232766.5																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(1261-1263)aGt>aAt		kelch-like family member 18							203.0	171.0	182.0					3																	47384244		2203	4300	6503	SO:0001583	missense	23276							g.chr3:47384244G>A	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.1262G>A	3.37:g.47384244G>A	ENSP00000232766:p.Ser421Asn					KLHL18_ENST00000455924.2_Missense_Mutation_p.S309N	p.S421N	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)	9	1282	+		Acute lymphoblastic leukemia(5;0.164)	421					A8K612|Q7Z3E8|Q8N125	Missense_Mutation	SNP	ENST00000232766.5	37	c.1262G>A	CCDS33749.1	.	.	.	.	.	.	.	.	.	.	G	33	5.266443	0.95399	.	.	ENSG00000114648	ENST00000232766;ENST00000455924	T;T	0.81078	-1.45;-1.45	5.5	5.5	0.81552	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.91219	0.7233	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91540	0.5249	10	0.54805	T	0.06	.	18.7421	0.91777	0.0:0.0:1.0:0.0	.	421	O94889	KLH18_HUMAN	N	421;309	ENSP00000232766:S421N;ENSP00000405585:S309N	ENSP00000232766:S421N	S	+	2	0	KLHL18	47359248	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	9.521000	0.98029	2.740000	0.93945	0.650000	0.86243	AGT		0.522	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010		9	42	0	0	0	1	0	9	42				
SYCP1	6847	broad.mit.edu	37	1	115468961	115468961	+	Splice_Site	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:115468961G>C	ENST00000369522.3	+	22	2103	c.1863G>C	c.(1861-1863)gaG>gaC	p.E621D	SYCP1_ENST00000369518.1_Splice_Site_p.E621D	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	621					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCAGCAGGAGGTATGTATTT	0.259																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.e22+1		synaptonemal complex protein 1							22.0	24.0	23.0					1																	115468961		2129	4222	6351	SO:0001630	splice_region_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115468961G>C	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1863+1G>C	1.37:g.115468961G>C						SYCP1_ENST00000369518.1_Splice_Site_p.E621_splice	p.E621_splice	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	22	2103	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	621					O14963|Q5VXJ6	Splice_Site	SNP	ENST00000369522.3	37	c.1863_splice	CCDS879.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538213	0.65085	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.55588	0.51;0.51;0.51	4.38	4.38	0.52667	.	0.219657	0.39146	N	0.001453	T	0.61085	0.2319	M	0.67953	2.075	0.50632	D	0.999885	D;D	0.69078	0.997;0.997	D;D	0.79108	0.992;0.992	T	0.62877	-0.6761	10	0.46703	T	0.11	-9.0286	12.7953	0.57556	0.0:0.0:1.0:0.0	.	621;621	B7ZLS9;Q15431	.;SYCP1_HUMAN	D	621	ENSP00000358535:E621D;ENSP00000410011:E621D;ENSP00000358531:E621D	ENSP00000358531:E621D	E	+	3	2	SYCP1	115270484	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	4.899000	0.63245	2.150000	0.67090	0.591000	0.81541	GAG		0.259	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176	Missense_Mutation	3	14	0	0	0	1	0	3	14				
ADAMTS6	11174	broad.mit.edu	37	5	64766636	64766636	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:64766636G>T	ENST00000536360.1	-	3	1244	c.431C>A	c.(430-432)aCt>aAt	p.T144N				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	144						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		AGCCACTTTAGTTGTACTACG	0.348																																						ENST00000536360.1																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18						c.(430-432)aCt>aAt		ADAM metallopeptidase with thrombospondin type 1 motif, 6							82.0	79.0	80.0					5																	64766636		2203	4300	6503	SO:0001583	missense	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64766636G>T	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.431C>A	5.37:g.64766636G>T	ENSP00000440995:p.Thr144Asn						p.T144N			Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	3	1244	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	144					Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	ENST00000536360.1	37	c.431C>A		.	.	.	.	.	.	.	.	.	.	G	24.1	4.489105	0.84962	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	T;T;T	0.06449	3.3;3.3;3.3	5.78	5.78	0.91487	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.20700	0.0498	M	0.67397	2.05	0.80722	D	1	P	0.42296	0.775	P	0.52066	0.689	T	0.00005	-1.2545	10	0.72032	D	0.01	.	20.3754	0.98918	0.0:0.0:1.0:0.0	.	144	Q9UKP5	ATS6_HUMAN	N	144	ENSP00000370443:T144N;ENSP00000423551:T144N;ENSP00000440995:T144N	ENSP00000261306:T144N	T	-	2	0	ADAMTS6	64802392	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.984000	0.93482	2.894000	0.99253	0.591000	0.81541	ACT		0.348	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941		13	25	1	0	1.05317e-09	1	1.4851e-09	13	25				
SFMBT2	57713	broad.mit.edu	37	10	7218053	7218053	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:7218053C>A	ENST00000361972.4	-	17	1973	c.1883G>T	c.(1882-1884)cGa>cTa	p.R628L	SFMBT2_ENST00000397167.1_Missense_Mutation_p.R628L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	628					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GGCACAGACTCGGCGGCAGAA	0.453																																						ENST00000361972.4																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(1882-1884)cGa>cTa		Scm-like with four mbt domains 2							145.0	143.0	144.0					10																	7218053		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7218053C>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1883G>T	10.37:g.7218053C>A	ENSP00000355109:p.Arg628Leu					SFMBT2_ENST00000397167.1_Missense_Mutation_p.R628L	p.R628L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			17	1973	-			628					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.1883G>T	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.259304	0.59321	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.45276	0.9;0.9	5.83	3.96	0.45880	.	0.212871	0.45126	D	0.000383	T	0.40886	0.1135	N	0.22421	0.69	0.24222	N	0.99544	D	0.58970	0.984	P	0.57846	0.828	T	0.15549	-1.0433	10	0.37606	T	0.19	.	8.8754	0.35343	0.0:0.7735:0.0:0.2265	.	628	Q5VUG0	SMBT2_HUMAN	L	628	ENSP00000355109:R628L;ENSP00000380353:R628L	ENSP00000355109:R628L	R	-	2	0	SFMBT2	7258059	0.989000	0.36119	0.030000	0.17652	0.925000	0.55904	2.757000	0.47557	0.791000	0.33826	0.561000	0.74099	CGA		0.453	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		8	79	1	0	3.09899e-07	1	3.99997e-07	8	79				
N6AMT1	29104	broad.mit.edu	37	21	30255315	30255315	+	Silent	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:30255315A>C	ENST00000303775.5	-	2	238	c.213T>G	c.(211-213)gcT>gcG	p.A71A	N6AMT1_ENST00000351429.3_Silent_p.A71A	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	71					positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479)	protein complex (GO:0043234)	nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						ACATGTACAAAGCCTGAGGGC	0.343																																						ENST00000303775.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						c.(211-213)gcT>gcG		N-6 adenine-specific DNA methyltransferase 1 (putative)							91.0	84.0	86.0					21																	30255315		2203	4300	6503	SO:0001819	synonymous_variant	29104				positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	g.chr21:30255315A>C	AF139682	CCDS33525.1, CCDS33526.1	21q21.3	2006-12-14	2006-12-14	2006-12-14	ENSG00000156239	ENSG00000156239	2.1.1.72		16021	protein-coding gene	gene with protein product		614553	"""chromosome 21 open reading frame 127"", ""HemK methyltransferase family member 2"""	C21orf127, HEMK2			Standard	NM_013240		Approved	PRED28, N6AMT, MTQ2	uc002ymo.2	Q9Y5N5	OTTHUMG00000078750	ENST00000303775.5:c.213T>G	21.37:g.30255315A>C						N6AMT1_ENST00000351429.3_Silent_p.A71A	p.A71A	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN			2	238	-			71					Q96F73	Silent	SNP	ENST00000303775.5	37	c.213T>G	CCDS33526.1																																																																																				0.343	N6AMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171738.1	NM_013240		8	38	0	0	0	1	0	8	38				
PTX3	5806	broad.mit.edu	37	3	157160214	157160214	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:157160214C>G	ENST00000295927.3	+	3	737	c.592C>G	c.(592-594)Cca>Gca	p.P198A	VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000392832.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	198	Pentaxin.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of viral entry into host cell (GO:0046597)|opsonization (GO:0008228)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phagocytosis (GO:0050766)|response to yeast (GO:0001878)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	(1->3)-beta-D-glucan binding (GO:0001872)|complement component C1q binding (GO:0001849)|virion binding (GO:0046790)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AAGCGTGCATCCAGTGAGACC	0.378																																						ENST00000295927.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10						c.(592-594)Cca>Gca		pentraxin 3, long							76.0	74.0	75.0					3																	157160214		2203	4300	6503	SO:0001583	missense	5806				inflammatory response	extracellular region		g.chr3:157160214C>G	X63613	CCDS3180.1	3q25	2010-03-11	2010-03-11		ENSG00000163661	ENSG00000163661			9692	protein-coding gene	gene with protein product		602492	"""pentaxin-related gene, rapidly induced by IL-1 beta"", ""tumor necrosis factor, alpha-induced protein 5"", ""pentraxin-related gene, rapidly induced by IL-1 beta"""	TNFAIP5		1429570	Standard	NM_002852		Approved	TSG-14	uc003fbl.4	P26022	OTTHUMG00000158750	ENST00000295927.3:c.592C>G	3.37:g.157160214C>G	ENSP00000295927:p.Pro198Ala					VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000392832.2_Intron	p.P198A	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		3	737	+			198			Pentaxin.		B2R6T6|Q38M82	Missense_Mutation	SNP	ENST00000295927.3	37	c.592C>G	CCDS3180.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769123	0.69992	.	.	ENSG00000163661	ENST00000295927	T	0.59224	0.28	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.097992	0.64402	D	0.000001	T	0.77785	0.4182	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.78778	-0.2071	10	0.54805	T	0.06	-9.2553	19.3998	0.94623	0.0:1.0:0.0:0.0	.	198	P26022	PTX3_HUMAN	A	198	ENSP00000295927:P198A	ENSP00000295927:P198A	P	+	1	0	PTX3	158642908	0.966000	0.33281	0.931000	0.37212	0.908000	0.53690	3.328000	0.52052	2.586000	0.87340	0.655000	0.94253	CCA		0.378	PTX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352028.1	NM_002852		39	103	0	0	0	1	0	39	103				
SLCO1B3	28234	broad.mit.edu	37	12	21011481	21011481	+	Missense_Mutation	SNP	C	C	T	rs145334570	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:21011481C>T	ENST00000381545.3	+	5	554	c.335C>T	c.(334-336)tCt>tTt	p.S112F	SLCO1B7_ENST00000554957.1_Missense_Mutation_p.S112F|SLCO1B3_ENST00000545880.1_3'UTR|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S112F|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S112F|LST3_ENST00000540229.1_Missense_Mutation_p.S112F|LST3_ENST00000381541.3_Missense_Mutation_p.S112F	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	112			S -> A (in dbSNP:rs4149117).		bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	ATTTTGACATCTTTACCACAT	0.328																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(334-336)tCt>tTt		solute carrier organic anion transporter family, member 1B3							165.0	151.0	156.0					12																	21011481		2203	4299	6502	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21011481C>T		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.335C>T	12.37:g.21011481C>T	ENSP00000370956:p.Ser112Phe					SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S112F|LST3_ENST00000381541.3_Missense_Mutation_p.S112F|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.S112F|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S112F|SLCO1B3_ENST00000545880.1_3'UTR|LST3_ENST00000540229.1_Missense_Mutation_p.S112F	p.S112F	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			5	554	+	Esophageal squamous(101;0.149)		112		S -> A (in dbSNP:rs4149117).			E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.335C>T	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018402	0.54576	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957	T;T;T;T;T;T;T	0.80304	0.26;0.26;0.26;0.26;-1.36;0.26;-1.36	3.99	3.99	0.46301	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.106603	0.64402	D	0.000006	T	0.82185	0.4982	L	0.41492	1.28	0.22500	N	0.999045	P;P;B	0.44734	0.808;0.842;0.242	P;P;P	0.52881	0.712;0.639;0.608	T	0.77146	-0.2695	10	0.87932	D	0	.	16.4451	0.83925	0.0:1.0:0.0:0.0	.	112;112;112	F5H094;Q5JAR4;Q9NPD5	.;.;SO1B3_HUMAN	F	112	ENSP00000442000:S112F;ENSP00000261196:S112F;ENSP00000370956:S112F;ENSP00000451758:S112F;ENSP00000370952:S112F;ENSP00000441269:S112F;ENSP00000452013:S112F	ENSP00000370952:S112F	S	+	2	0	SLCO1B3;SLCO1B7;RP11-545J16.1	20902748	0.963000	0.33076	0.998000	0.56505	0.712000	0.41017	1.836000	0.39191	1.926000	0.55796	0.460000	0.39030	TCT		0.328	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		14	81	0	0	0	1	0	14	81				
MKI67	4288	broad.mit.edu	37	10	129905570	129905570	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:129905570T>A	ENST00000368654.3	-	13	4909	c.4534A>T	c.(4534-4536)Aag>Tag	p.K1512*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.K1152*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1512	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGACTTCTCTTGGACTGTGGC	0.502																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(4534-4536)Aag>Tag		marker of proliferation Ki-67							289.0	272.0	278.0					10																	129905570		2203	4300	6503	SO:0001587	stop_gained	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905570T>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4534A>T	10.37:g.129905570T>A	ENSP00000357643:p.Lys1512*					MKI67_ENST00000368653.3_Nonsense_Mutation_p.K1152*	p.K1512*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	4909	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1512			16 X 122 AA approximate repeats.		Q5VWH2	Nonsense_Mutation	SNP	ENST00000368654.3	37	c.4534A>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	44	10.984363	0.99499	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	.	.	.	2.91	0.494	0.16884	.	0.793771	0.11157	N	0.593480	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9511	0.19246	0.0:0.2545:0.0:0.7455	.	.	.	.	X	1512;1152;1511	.	ENSP00000357642:K1152X	K	-	1	0	MKI67	129795560	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.012000	0.12699	0.102000	0.17638	0.379000	0.24179	AAG		0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		41	237	0	0	0	1	0	41	237				
TTN	7273	broad.mit.edu	37	2	179654192	179654192	+	Silent	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:179654192A>T	ENST00000591111.1	-	13	2195	c.1971T>A	c.(1969-1971)tcT>tcA	p.S657S	TTN_ENST00000342992.6_Silent_p.S657S|TTN_ENST00000359218.5_Silent_p.S611S|TTN_ENST00000342175.6_Silent_p.S611S|TTN_ENST00000360870.5_Silent_p.S657S|TTN_ENST00000460472.2_Silent_p.S611S|TTN_ENST00000589042.1_Silent_p.S657S			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCTATTGTAGACAAGGCAG	0.383																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(1969-1971)tcT>tcA		titin							156.0	144.0	148.0					2																	179654192		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179654192A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.1971T>A	2.37:g.179654192A>T						TTN_ENST00000342992.6_Silent_p.S657S|TTN_ENST00000460472.2_Silent_p.S611S|TTN_ENST00000591111.1_Silent_p.S657S|TTN_ENST00000360870.5_Silent_p.S657S|TTN_ENST00000342175.6_Silent_p.S611S|TTN_ENST00000359218.5_Silent_p.S611S	p.S657S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		13	2195	-			657					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.1971T>A																																																																																					0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	86	0	0	0	1	0	7	86				
CCNF	899	broad.mit.edu	37	16	2482998	2482998	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:2482998G>C	ENST00000397066.4	+	3	296	c.208G>C	c.(208-210)Gcc>Ccc	p.A70P		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	70	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GGACAACCACGCCAGTGTGTG	0.607																																						ENST00000397066.4																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20						c.(208-210)Gcc>Ccc		cyclin F							73.0	66.0	69.0					16																	2482998		2198	4300	6498	SO:0001583	missense	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2482998G>C	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.208G>C	16.37:g.2482998G>C	ENSP00000380256:p.Ala70Pro						p.A70P	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN			3	296	+		Ovarian(90;0.17)	70			F-box.		B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	c.208G>C	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	G	5.232	0.228306	0.09916	.	.	ENSG00000162063	ENST00000397066	T	0.17528	2.27	5.15	4.2	0.49525	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.234069	0.44285	D	0.000465	T	0.10337	0.0253	L	0.29908	0.895	0.48830	D	0.999716	B	0.17667	0.023	B	0.18561	0.022	T	0.16867	-1.0388	10	0.16420	T	0.52	-22.4655	5.4081	0.16332	0.1684:0.0:0.6711:0.1605	.	70	P41002	CCNF_HUMAN	P	70	ENSP00000380256:A70P	ENSP00000380256:A70P	A	+	1	0	CCNF	2422999	0.894000	0.30519	0.992000	0.48379	0.072000	0.16883	1.348000	0.33987	1.293000	0.44690	0.561000	0.74099	GCC		0.607	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		3	17	0	0	0	1	0	3	17				
FCN2	2220	broad.mit.edu	37	9	137777670	137777670	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:137777670C>G	ENST00000291744.6	+	6	496	c.486C>G	c.(484-486)taC>taG	p.Y162*	FCN2_ENST00000350339.2_Nonsense_Mutation_p.Y124*	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	162	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GGGCCACGTACAAGCAGGGCT	0.677																																						ENST00000350339.2																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20						c.(370-372)taC>taG		ficolin (collagen/fibrinogen domain containing lectin) 2							63.0	61.0	62.0					9																	137777670		2203	4300	6503	SO:0001587	stop_gained	2220				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	g.chr9:137777670C>G	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.486C>G	9.37:g.137777670C>G	ENSP00000291744:p.Tyr162*					FCN2_ENST00000291744.6_Nonsense_Mutation_p.Y162*	p.Y124*	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)	5	386	+		Myeloproliferative disorder(178;0.0333)	162			Fibrinogen C-terminal.		A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Nonsense_Mutation	SNP	ENST00000291744.6	37	c.372C>G	CCDS6983.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733376	0.89482	.	.	ENSG00000160339	ENST00000350339;ENST00000291744	.	.	.	3.96	3.06	0.35304	.	0.000000	0.38436	N	0.001683	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3759	0.38283	0.0:0.8898:0.0:0.1102	.	.	.	.	X	124;162	.	ENSP00000291744:Y162X	Y	+	3	2	FCN2	136917491	0.999000	0.42202	0.601000	0.28877	0.942000	0.58702	3.083000	0.50136	0.625000	0.30304	0.563000	0.77884	TAC		0.677	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108		8	49	0	0	0	1	0	8	49				
GAGE2B	645037	broad.mit.edu	37	X	49236841	49236841	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:49236841G>A	ENST00000381725.1	+	2	94	c.11G>A	c.(10-12)cGa>cAa	p.R4Q		NM_001098411.3	NP_001091881.1	Q13066	GAG2B_HUMAN	G antigen 2B	4																	ATGAGTTGGCGAGGAAGATCG	0.463																																						ENST00000381725.1																			0											c.(10-12)cGa>cAa		G antigen 2B							52.0	42.0	46.0					X																	49236841		1643	2129	3772	SO:0001583	missense	645037							g.chrX:49236841G>A			Xp11.23	2012-10-02			ENSG00000231850				31957	protein-coding gene	gene with protein product		300726					Standard	NM_001098411		Approved			Q13066	OTTHUMG00000067391	ENST00000381725.1:c.11G>A	X.37:g.49236841G>A	ENSP00000371144:p.Arg4Gln						p.R4Q	NM_001098411.3	NP_001091881.1					2	94	+								C9K0W9|Q4V322	Missense_Mutation	SNP	ENST00000381725.1	37	c.11G>A	CCDS48112.1	.	.	.	.	.	.	.	.	.	.	.	12.19	1.862819	0.32884	.	.	ENSG00000231850	ENST00000381725	T	0.12879	2.64	0.99	-1.2	0.09554	.	.	.	.	.	T	0.10208	0.0250	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33954	-0.9848	6	0.38643	T	0.18	.	3.9882	0.09525	0.5501:0.0:0.4499:0.0	.	.	.	.	Q	4	ENSP00000371144:R4Q	ENSP00000365350:R4Q	R	+	2	0	GAGE2B	49123785	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.233000	0.09041	-0.596000	0.05821	0.171000	0.16805	CGA		0.463	GAGE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144210.1	NM_001098411		20	167	0	0	0	1	0	20	167				
MAP1LC3A	84557	broad.mit.edu	37	20	33148763	33148763	+	IGR	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr20:33148763G>C	ENST00000360668.3	+	0	1574				PIGU_ENST00000452740.2_3'UTR|PIGU_ENST00000374820.2_Nonsense_Mutation_p.Y385*			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha						autophagic vacuole assembly (GO:0000045)|mitochondrion degradation (GO:0000422)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|late endosome (GO:0005770)|microtubule (GO:0005874)|organelle membrane (GO:0031090)	phosphatidylethanolamine binding (GO:0008429)|phospholipid binding (GO:0005543)			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						AGGCATAGAAGTAATCAGAGA	0.592																																						ENST00000374820.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						c.(1153-1155)taC>taG		phosphatidylinositol glycan anchor biosynthesis, class U							73.0	71.0	72.0					20																	33148763		2203	4300	6503	SO:0001628	intergenic_variant	128869				attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane		g.chr20:33148763G>C		CCDS13237.1, CCDS13238.1	20q11.22	2014-02-12			ENSG00000101460	ENSG00000101460			6838	protein-coding gene	gene with protein product		601242				8833088, 17580304	Standard	NM_032514		Approved	MAP1BLC3, MAP1ALC3, LC3, LC3A, ATG8E	uc002xaq.2	Q9H492	OTTHUMG00000032306		20.37:g.33148763G>C						PIGU_ENST00000452740.2_3'UTR	p.Y385*			Q9H490	PIGU_HUMAN			11	1175	-			405					E1P5P4|E1P5P5|Q9BXW5	Nonsense_Mutation	SNP	ENST00000360668.3	37	c.1155C>G	CCDS13238.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122760	0.77436	.	.	ENSG00000101464	ENST00000217446;ENST00000374820;ENST00000438215	.	.	.	5.35	4.4	0.53042	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	7.413	0.27027	0.2526:0.0:0.7474:0.0	.	.	.	.	X	405;385;151	.	ENSP00000217446:Y405X	Y	-	3	2	PIGU	32612424	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.136000	0.58004	1.265000	0.44215	0.561000	0.74099	TAC		0.592	MAP1LC3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078801.2	NM_181509		4	19	0	0	0	1	0	4	19				
PCDHGB3	56102	broad.mit.edu	37	5	140751189	140751189	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140751189C>T	ENST00000576222.1	+	1	1359	c.1228C>T	c.(1228-1230)Ctg>Ttg	p.L410L	PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	410	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATGGAGCCCTGGACCGGGA	0.468																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1228-1230)Ctg>Ttg									73.0	77.0	75.0					5																	140751189		2071	4206	6277	SO:0001819	synonymous_variant	56102							g.chr5:140751189C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1228C>T	5.37:g.140751189C>T						PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	p.L410L	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1359	+								A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.1228C>T	CCDS58980.1																																																																																				0.468	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		15	54	0	0	0	1	0	15	54				
DSC1	1823	broad.mit.edu	37	18	28725621	28725621	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:28725621G>C	ENST00000257198.5	-	7	1153	c.892C>G	c.(892-894)Cca>Gca	p.P298A	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Missense_Mutation_p.P298A	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	298	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCGGTATCTGGGTGTATGGAG	0.388																																						ENST00000257197.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(892-894)Cca>Gca		desmocollin 1							192.0	188.0	190.0					18																	28725621		2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28725621G>C	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.892C>G	18.37:g.28725621G>C	ENSP00000257198:p.Pro298Ala					DSC1_ENST00000257198.5_Missense_Mutation_p.P298A|RP11-408H20.2_ENST00000581836.1_RNA	p.P298A	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		7	1153	-			298			Cadherin 2.		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.892C>G	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305825	0.81247	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.53423	0.62;0.62	5.32	5.32	0.75619	Cadherin (4);Cadherin-like (1);	0.287470	0.24764	N	0.035790	T	0.69548	0.3123	M	0.73962	2.25	0.52501	D	0.999952	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.69993	-0.4994	10	0.46703	T	0.11	.	17.7572	0.88452	0.0:0.0:1.0:0.0	.	298;298	Q08554;Q9HB00	DSC1_HUMAN;.	A	298	ENSP00000257197:P298A;ENSP00000257198:P298A	ENSP00000257197:P298A	P	-	1	0	DSC1	26979619	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	3.660000	0.54496	2.486000	0.83907	0.484000	0.47621	CCA		0.388	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		11	108	0	0	0	1	0	11	108				
FAR2	55711	broad.mit.edu	37	12	29464014	29464014	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:29464014C>T	ENST00000536681.3	+	7	1068	c.822C>T	c.(820-822)gaC>gaT	p.D274D	FAR2_ENST00000182377.4_Silent_p.D274D|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Silent_p.D177D	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	274					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGGCAGACGTAATTCCAG	0.418																																						ENST00000182377.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						c.(820-822)gaC>gaT		fatty acyl CoA reductase 2							151.0	145.0	147.0					12																	29464014		2203	4300	6503	SO:0001819	synonymous_variant	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29464014C>T	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.822C>T	12.37:g.29464014C>T						RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Silent_p.D274D|FAR2_ENST00000547116.1_Silent_p.D177D	p.D274D	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN			7	1090	+			274					F8VV73|Q9H0D5|Q9NVW8	Silent	SNP	ENST00000536681.3	37	c.822C>T	CCDS8717.1																																																																																				0.418	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		13	149	0	0	0	1	0	13	149				
MLLT4	4301	broad.mit.edu	37	6	168351917	168351917	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:168351917G>T	ENST00000447894.2	+	29	3862	c.3862G>T	c.(3862-3864)Gag>Tag	p.E1288*	MLLT4_ENST00000351017.4_Nonsense_Mutation_p.E1295*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.E1288*|MLLT4_ENST00000366806.2_Nonsense_Mutation_p.E1288*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.E1288*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.E1287*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.E1271*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1288					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTACCAACTTGAGCGGCATCG	0.413			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3862-3864)Gag>Tag		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							72.0	78.0	76.0					6																	168351917		2203	4300	6503	SO:0001587	stop_gained	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168351917G>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3862G>T	6.37:g.168351917G>T	ENSP00000404595:p.Glu1288*					MLLT4_ENST00000400822.3_Nonsense_Mutation_p.E1287*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.E1288*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.E1271*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.E1295*|MLLT4_ENST00000447894.2_Nonsense_Mutation_p.E1288*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.E1288*	p.E1288*			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	30	4004	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1288					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Nonsense_Mutation	SNP	ENST00000447894.2	37	c.3862G>T		.	.	.	.	.	.	.	.	.	.	G	40	8.230520	0.98717	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	.	.	.	5.5	5.5	0.81552	.	0.288964	0.34484	N	0.003930	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-5.9538	19.7664	0.96346	0.0:0.0:1.0:0.0	.	.	.	.	X	1288;1295;1288;1288;1271;1288;1287;1288	.	ENSP00000345834:E1288X	E	+	1	0	MLLT4	168094766	1.000000	0.71417	0.499000	0.27577	0.020000	0.10135	7.234000	0.78134	2.735000	0.93741	0.655000	0.94253	GAG		0.413	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		7	68	1	0	1.26484e-09	1	1.77122e-09	7	68				
ARHGAP32	9743	broad.mit.edu	37	11	128851369	128851369	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:128851369C>T	ENST00000310343.9	-	16	1679	c.1680G>A	c.(1678-1680)ctG>ctA	p.L560L	ARHGAP32_ENST00000524655.1_Silent_p.L486L|ARHGAP32_ENST00000392657.3_Silent_p.L211L|ARHGAP32_ENST00000527272.1_Silent_p.L211L	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	560	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CAACGTGATTCAGGATGAACT	0.512																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(1678-1680)ctG>ctA		Rho GTPase activating protein 32							159.0	130.0	140.0					11																	128851369		2201	4297	6498	SO:0001819	synonymous_variant	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128851369C>T	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.1680G>A	11.37:g.128851369C>T						ARHGAP32_ENST00000527272.1_Silent_p.L211L|ARHGAP32_ENST00000392657.3_Silent_p.L211L|ARHGAP32_ENST00000524655.1_Silent_p.L486L	p.L560L	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			16	1679	-			560			Rho-GAP.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	ENST00000310343.9	37	c.1680G>A	CCDS44769.1																																																																																				0.512	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		18	74	0	0	0	1	0	18	74				
TDP1	55775	broad.mit.edu	37	14	90458311	90458311	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:90458311C>T	ENST00000335725.4	+	13	1667	c.1417C>T	c.(1417-1419)Ctg>Ttg	p.L473L	TDP1_ENST00000357382.3_Silent_p.L234L|TDP1_ENST00000393454.2_Silent_p.L473L|TDP1_ENST00000393452.3_Silent_p.L473L|TDP1_ENST00000555880.1_Silent_p.L473L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	473					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		ACAGAATTGGCTGCATTCCTA	0.308								Repair of DNA-protein crosslinks																														ENST00000335725.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25						c.(1417-1419)Ctg>Ttg	Repair of DNA-protein crosslinks	tyrosyl-DNA phosphodiesterase 1							121.0	124.0	123.0					14																	90458311		2203	4300	6503	SO:0001819	synonymous_variant	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90458311C>T	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.1417C>T	14.37:g.90458311C>T						TDP1_ENST00000393454.2_Silent_p.L473L|TDP1_ENST00000357382.3_Silent_p.L234L|TDP1_ENST00000393452.3_Silent_p.L473L|TDP1_ENST00000555880.1_Silent_p.L473L	p.L473L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	13	1667	+		all_cancers(154;0.185)	473					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Silent	SNP	ENST00000335725.4	37	c.1417C>T	CCDS9888.1	.	.	.	.	.	.	.	.	.	.	C	8.587	0.883706	0.17467	.	.	ENSG00000042088	ENST00000556063	.	.	.	5.94	5.05	0.67936	.	.	.	.	.	T	0.69931	0.3166	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69232	-0.5199	4	.	.	.	-14.4474	13.8117	0.63268	0.0:0.9257:0.0:0.0743	.	.	.	.	V	113	.	.	A	+	2	0	TDP1	89528064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.786000	0.55431	1.512000	0.48834	0.561000	0.74099	GCT		0.308	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		13	78	0	0	0	1	0	13	78				
BARD1	580	broad.mit.edu	37	2	215632324	215632324	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:215632324T>C	ENST00000260947.4	-	6	1584	c.1450A>G	c.(1450-1452)Aag>Gag	p.K484E	BARD1_ENST00000449967.2_Missense_Mutation_p.K340E	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	484					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACCAATGCCTTATGCTGGAGC	0.408									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(1450-1452)Aag>Gag		BRCA1 associated RING domain 1							115.0	110.0	112.0					2																	215632324		2203	4300	6503	SO:0001583	missense	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215632324T>C		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1450A>G	2.37:g.215632324T>C	ENSP00000260947:p.Lys484Glu					BARD1_ENST00000449967.2_Missense_Mutation_p.K340E	p.K484E	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	6	1584	-		Renal(323;0.0243)	484					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.1450A>G	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.787223	0.31593	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.67865	-0.29;-0.29	5.52	1.53	0.23141	Ankyrin repeat-containing domain (3);	0.483471	0.24796	N	0.035534	T	0.52125	0.1715	L	0.27053	0.805	0.24433	N	0.994565	B;B	0.33964	0.339;0.434	B;B	0.36335	0.199;0.222	T	0.43032	-0.9416	10	0.41790	T	0.15	-3.0878	11.2226	0.48864	0.0:0.0655:0.5819:0.3526	.	340;484	E7EUI3;Q99728	.;BARD1_HUMAN	E	484;340	ENSP00000260947:K484E;ENSP00000406752:K340E	ENSP00000260947:K484E	K	-	1	0	BARD1	215340569	0.978000	0.34361	0.757000	0.31301	0.700000	0.40528	0.551000	0.23361	0.071000	0.16664	0.482000	0.46254	AAG		0.408	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		8	40	0	0	0	1	0	8	40				
TRAF3	7187	broad.mit.edu	37	14	103369742	103369742	+	Missense_Mutation	SNP	G	G	T	rs551555655		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:103369742G>T	ENST00000560371.1	+	10	1328	c.1111G>T	c.(1111-1113)Gcg>Tcg	p.A371S	TRAF3_ENST00000351691.5_Missense_Mutation_p.A346S|TRAF3_ENST00000539721.1_Missense_Mutation_p.A288S|TRAF3_ENST00000347662.4_Missense_Mutation_p.A346S|TRAF3_ENST00000392745.2_Missense_Mutation_p.A371S	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	371					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		GGACAAGAGCGCGGGGCAAGT	0.697																																						ENST00000560371.1																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30						c.(1111-1113)Gcg>Tcg		TNF receptor-associated factor 3							51.0	50.0	50.0					14																	103369742		2203	4300	6503	SO:0001583	missense	7187				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:103369742G>T	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.1111G>T	14.37:g.103369742G>T	ENSP00000454207:p.Ala371Ser					TRAF3_ENST00000392745.2_Missense_Mutation_p.A371S|TRAF3_ENST00000347662.4_Missense_Mutation_p.A346S|TRAF3_ENST00000539721.1_Missense_Mutation_p.A288S|TRAF3_ENST00000351691.5_Missense_Mutation_p.A346S	p.A371S	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)	10	1328	+		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)	371					B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	ENST00000560371.1	37	c.1111G>T	CCDS9975.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440284	0.25900	.	.	ENSG00000131323	ENST00000392745;ENST00000347662;ENST00000351691;ENST00000539721	T;T;T	0.80393	-1.37;-1.37;1.56	4.7	3.79	0.43588	.	0.349077	0.29152	N	0.012984	T	0.61060	0.2317	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.33266	-0.9875	10	0.09338	T	0.73	-11.7004	14.4063	0.67083	0.0:0.0:0.851:0.149	.	288;346;371	Q13114-2;A6NHG8;Q13114	.;.;TRAF3_HUMAN	S	371;346;371;288	ENSP00000376500:A371S;ENSP00000328003:A346S;ENSP00000445998:A288S	ENSP00000328003:A346S	A	+	1	0	TRAF3	102439495	0.771000	0.28555	0.008000	0.14137	0.741000	0.42261	3.187000	0.50950	1.080000	0.41073	0.655000	0.94253	GCG		0.697	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725		9	51	1	0	1.12685e-05	1	1.36711e-05	9	51				
MKRN3	7681	broad.mit.edu	37	15	23812127	23812127	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:23812127T>A	ENST00000314520.3	+	1	1674	c.1198T>A	c.(1198-1200)Tgc>Agc	p.C400S	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000564592.1_Missense_Mutation_p.C160S	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	400					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CAACAAGGCCTGCAGGTATTT	0.517																																						ENST00000314520.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1198-1200)Tgc>Agc		makorin ring finger protein 3							101.0	101.0	101.0					15																	23812127		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23812127T>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.1198T>A	15.37:g.23812127T>A	ENSP00000313881:p.Cys400Ser					MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Missense_Mutation_p.C160S	p.C400S	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1674	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	400						Missense_Mutation	SNP	ENST00000314520.3	37	c.1198T>A	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	T	13.97	2.397037	0.42512	.	.	ENSG00000179455	ENST00000314520	T	0.73897	-0.79	4.01	4.01	0.46588	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	D	0.86818	0.6024	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88836	0.3309	10	0.87932	D	0	.	11.5517	0.50725	0.0:0.0:0.0:1.0	.	400	Q13064	MKRN3_HUMAN	S	400	ENSP00000313881:C400S	ENSP00000313881:C400S	C	+	1	0	MKRN3	21363220	1.000000	0.71417	0.908000	0.35775	0.101000	0.19017	3.650000	0.54424	2.049000	0.60858	0.533000	0.62120	TGC		0.517	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		19	102	0	0	0	1	0	19	102				
SLC35B2	347734	broad.mit.edu	37	6	44222784	44222784	+	Missense_Mutation	SNP	C	C	G	rs190246649		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:44222784C>G	ENST00000393812.3	-	4	1101	c.958G>C	c.(958-960)Gaa>Caa	p.E320Q	SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000538577.1_Missense_Mutation_p.E227Q|SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000537814.1_Missense_Mutation_p.E187Q|MIR4647_ENST00000583964.1_RNA	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	320					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCCCCCTGTTCTAGCAGTGAG	0.557													c|||	1	0.000199681	0.0	0.0	5008	,	,		19175	0.001		0.0	False		,,,				2504	0.0					ENST00000393812.3																			0				breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15						c.(958-960)Gaa>Caa		solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2							55.0	51.0	52.0					6																	44222784		2203	4300	6503	SO:0001583	missense	347734				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	g.chr6:44222784C>G	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.958G>C	6.37:g.44222784C>G	ENSP00000377401:p.Glu320Gln					SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000538577.1_Missense_Mutation_p.E227Q|SLC35B2_ENST00000537814.1_Missense_Mutation_p.E187Q	p.E320Q	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	1101	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		320					B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Missense_Mutation	SNP	ENST00000393812.3	37	c.958G>C	CCDS34462.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	7.676	0.687912	0.14973	.	.	ENSG00000157593	ENST00000393812;ENST00000537814;ENST00000538577;ENST00000341553	T;T;T	0.29655	1.56;1.56;1.56	5.07	2.12	0.27331	.	0.158034	0.56097	N	0.000035	T	0.06781	0.0173	N	0.03917	-0.325	0.54753	D	0.999985	B;B	0.02656	0.0;0.0	B;B	0.11329	0.004;0.006	T	0.08827	-1.0703	10	0.28530	T	0.3	-25.3078	18.2357	0.89948	0.0:0.6729:0.3271:0.0	.	227;320	F5H7Y9;Q8TB61	.;S35B2_HUMAN	Q	320;187;227;280	ENSP00000377401:E320Q;ENSP00000440340:E187Q;ENSP00000443845:E227Q	ENSP00000342455:E280Q	E	-	1	0	SLC35B2	44330762	0.999000	0.42202	0.702000	0.30337	0.840000	0.47671	2.179000	0.42528	0.511000	0.28236	0.437000	0.28790	GAA		0.557	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			5	32	0	0	0	1	0	5	32				
DAB2	1601	broad.mit.edu	37	5	39376172	39376172	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:39376172G>C	ENST00000320816.6	-	13	2641	c.2174C>G	c.(2173-2175)cCa>cGa	p.P725R	DAB2_ENST00000509337.1_Missense_Mutation_p.P704R|DAB2_ENST00000545653.1_Missense_Mutation_p.P704R|DAB2_ENST00000339788.6_Missense_Mutation_p.P507R	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	725	Required for interaction with MYO6. {ECO:0000250}.|Sufficient for interaction with GRB2. {ECO:0000250}.|Sufficient for interaction with SH3KBP1 SH3 domain. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTTGGTAACTGGCAGGGAAAC	0.428																																						ENST00000545653.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47						c.(2110-2112)cCa>cGa		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)							101.0	103.0	103.0					5																	39376172		2203	4300	6503	SO:0001583	missense	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39376172G>C	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.2174C>G	5.37:g.39376172G>C	ENSP00000313391:p.Pro725Arg					DAB2_ENST00000339788.6_Missense_Mutation_p.P507R|DAB2_ENST00000320816.6_Missense_Mutation_p.P725R|DAB2_ENST00000509337.1_Missense_Mutation_p.P704R	p.P704R	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Epithelial(62;0.137)		12	2641	-	all_lung(31;0.000197)		725			Required for interaction with MYO6 (By similarity).		A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.2111C>G	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069506	0.55539	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	T;T;T;T	0.46451	0.96;0.95;0.87;0.87	5.76	3.63	0.41609	.	0.525167	0.22522	N	0.058952	T	0.39410	0.1077	L	0.47716	1.5	0.09310	N	1	P;P	0.36282	0.528;0.546	B;B	0.38954	0.11;0.286	T	0.34204	-0.9838	10	0.52906	T	0.07	-0.9121	13.0063	0.58707	0.1606:0.0:0.8394:0.0	.	725;704	P98082;P98082-3	DAB2_HUMAN;.	R	725;507;704;704	ENSP00000313391:P725R;ENSP00000345508:P507R;ENSP00000439919:P704R;ENSP00000426245:P704R	ENSP00000313391:P725R	P	-	2	0	DAB2	39411929	0.996000	0.38824	0.992000	0.48379	0.987000	0.75469	3.667000	0.54547	1.401000	0.46761	0.655000	0.94253	CCA		0.428	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		5	70	0	0	0	1	0	5	70				
PLA1A	51365	broad.mit.edu	37	3	119331897	119331897	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:119331897C>A	ENST00000273371.4	+	5	668	c.596C>A	c.(595-597)gCc>gAc	p.A199D	PLA1A_ENST00000495992.1_Missense_Mutation_p.A183D|PLA1A_ENST00000488919.1_Missense_Mutation_p.A26D|PLA1A_ENST00000494440.1_Missense_Mutation_p.A183D	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	199					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TACACCAGGGCCAGTGTGGAA	0.582																																						ENST00000273371.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(595-597)gCc>gAc		phospholipase A1 member A							60.0	45.0	50.0					3																	119331897		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119331897C>A	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.596C>A	3.37:g.119331897C>A	ENSP00000273371:p.Ala199Asp					PLA1A_ENST00000494440.1_Missense_Mutation_p.A183D|PLA1A_ENST00000488919.1_Missense_Mutation_p.A26D|PLA1A_ENST00000495992.1_Missense_Mutation_p.A183D	p.A199D	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN			5	668	+			199					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.596C>A	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417880	0.62622	.	.	ENSG00000144837	ENST00000273371;ENST00000488919;ENST00000495992;ENST00000494440;ENST00000475963	D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71	5.92	5.92	0.95590	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93562	0.7945	L	0.45422	1.42	0.46499	D	0.99907	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93384	0.6746	10	0.56958	D	0.05	-25.5095	18.1124	0.89540	0.0:1.0:0.0:0.0	.	183;199	Q53H76-3;Q53H76	.;PLA1A_HUMAN	D	199;26;183;183;65	ENSP00000273371:A199D;ENSP00000420625:A26D;ENSP00000417326:A183D;ENSP00000418793:A183D;ENSP00000417295:A65D	ENSP00000273371:A199D	A	+	2	0	PLA1A	120814587	1.000000	0.71417	1.000000	0.80357	0.165000	0.22458	4.326000	0.59241	2.811000	0.96726	0.555000	0.69702	GCC		0.582	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			4	16	1	0	1.23904e-05	1	1.49648e-05	4	16				
OR51B5	282763	broad.mit.edu	37	11	5364327	5364327	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:5364327C>A	ENST00000300773.2	-	1	482	c.428G>T	c.(427-429)gGg>gTg	p.G143V	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	143					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G143E(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACTCCCAGCCCAATCTTCAC	0.448																																						ENST00000300773.2																			1	Substitution - Missense(1)	p.G143E(1)	skin(1)	NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28						c.(427-429)gGg>gTg		olfactory receptor, family 51, subfamily B, member 5							53.0	58.0	56.0					11																	5364327		2201	4297	6498	SO:0001583	missense	282763				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5364327C>A	BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.428G>T	11.37:g.5364327C>A	ENSP00000300773:p.Gly143Val					HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.G143V	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	482	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	143					B2RN59	Missense_Mutation	SNP	ENST00000300773.2	37	c.428G>T	CCDS31378.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263312	0.39995	.	.	ENSG00000242180	ENST00000300773	T	0.33216	1.42	4.76	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.176569	0.26390	N	0.024648	T	0.40570	0.1122	M	0.68952	2.095	0.44871	D	0.997889	P	0.40578	0.722	P	0.45506	0.483	T	0.44742	-0.9308	10	0.87932	D	0	.	14.0297	0.64609	0.0:0.8479:0.1521:0.0	.	143	Q9H339	O51B5_HUMAN	V	143	ENSP00000300773:G143V	ENSP00000300773:G143V	G	-	2	0	OR51B5	5320903	0.000000	0.05858	0.293000	0.24932	0.474000	0.32979	0.120000	0.15647	1.217000	0.43442	0.650000	0.86243	GGG		0.448	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567		6	73	1	0	3.59834e-05	1	4.23827e-05	6	73				
TRGV4	6977	broad.mit.edu	37	7	38393495	38393495	+	RNA	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:38393495C>G	ENST00000390345.2	-	0	508									T cell receptor gamma variable 4																		GGGGCCTTCCCCTCCTGGTGT	0.512																																						ENST00000390345.2																			0																				99.0	89.0	92.0					7																	38393495		1848	3911	5759			6977							g.chr7:38393495C>G	X15272		7p14	2013-12-13			ENSG00000211698	ENSG00000211698		"""T cell receptors / TRG locus"""	12289	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V4"""			TCRGV4		2969332	Standard	NG_001336		Approved	V1S4			OTTHUMG00000155099		7.37:g.38393495C>G														0	508	-									RNA	SNP	ENST00000390345.2	37																																																																																						0.512	TRGV4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338400.4	NG_001336		24	73	0	0	0	1	0	24	73				
CDRT1	374286	broad.mit.edu	37	17	15498141	15498141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:15498141C>T	ENST00000395906.3	-	10	1767	c.1768G>A	c.(1768-1770)Gga>Aga	p.G590R	CDRT1_ENST00000583965.1_Intron|RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.G900R|CDRT1_ENST00000354433.3_Missense_Mutation_p.G90R	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	590										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TCAGTGCTTCCTGAGAGGAGA	0.557																																						ENST00000455584.2																			0											c.(2698-2700)Gga>Aga									121.0	119.0	120.0					17																	15498141		2203	4300	6503	SO:0001583	missense	374286							g.chr17:15498141C>T	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	14379	protein-coding gene	gene with protein product		604596	"""F-box and WD repeat domain containing 10 pseudogene 1"", ""F-box and WD-40 domain protein 10 pseudogene 1"""	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.1768G>A	17.37:g.15498141C>T	ENSP00000379242:p.Gly590Arg					CDRT1_ENST00000354433.3_Missense_Mutation_p.G90R|CDRT1_ENST00000395906.3_Missense_Mutation_p.G590R|CDRT1_ENST00000583965.1_Intron	p.G900R							16	2741	-								O43848|O95611	Missense_Mutation	SNP	ENST00000395906.3	37	c.2698G>A	CCDS45619.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000448	0.35320	.	.	ENSG00000241322;ENSG00000251537;ENSG00000251537	ENST00000354433;ENST00000261644;ENST00000395906	T;T	0.72051	-0.62;-0.62	4.99	4.99	0.66335	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.072360	0.53938	D	0.000041	D	0.87861	0.6284	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.90702	0.4621	10	0.87932	D	0	.	17.201	0.86906	0.0:1.0:0.0:0.0	.	590;914	O95170;Q59EB2	CDRT1_HUMAN;.	R	90;620;590	ENSP00000346416:G90R;ENSP00000379242:G590R	ENSP00000346416:G90R	G	-	1	0	CDRT1;RP11-385D13.1	15438866	1.000000	0.71417	0.588000	0.28705	0.263000	0.26337	6.410000	0.73294	2.595000	0.87683	0.585000	0.79938	GGA		0.557	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382		5	46	0	0	0	1	0	5	46				
GREB1	9687	broad.mit.edu	37	2	11729026	11729026	+	Silent	SNP	C	C	A	rs149895684		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:11729026C>A	ENST00000381486.2	+	10	1614	c.1314C>A	c.(1312-1314)ctC>ctA	p.L438L	GREB1_ENST00000234142.5_Silent_p.L438L|GREB1_ENST00000381483.2_Silent_p.L438L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	438						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGATGCAGCTCCTGCTTACCG	0.627																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(1312-1314)ctC>ctA		growth regulation by estrogen in breast cancer 1							113.0	92.0	99.0					2																	11729026		2203	4300	6503	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11729026C>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.1314C>A	2.37:g.11729026C>A						GREB1_ENST00000381483.2_Silent_p.L438L|GREB1_ENST00000234142.5_Silent_p.L438L	p.L438L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	10	1614	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		438					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.1314C>A	CCDS42655.1																																																																																				0.627	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		7	81	1	0	0.248553	1	0.249789	7	81				
FBXO4	26272	broad.mit.edu	37	5	41934243	41934243	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:41934243G>A	ENST00000281623.3	+	5	787	c.731G>A	c.(730-732)aGa>aAa	p.R244K	FBXO4_ENST00000296812.2_Missense_Mutation_p.R244K|FBXO4_ENST00000509134.1_Missense_Mutation_p.R244K	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	244					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				AGAAAGGAAAGAGATAGAGCA	0.383																																						ENST00000296812.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27						c.(730-732)aGa>aAa		F-box protein 4							80.0	76.0	77.0					5																	41934243		2203	4300	6503	SO:0001583	missense	26272				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	g.chr5:41934243G>A	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.731G>A	5.37:g.41934243G>A	ENSP00000281623:p.Arg244Lys					FBXO4_ENST00000281623.3_Missense_Mutation_p.R244K|FBXO4_ENST00000509134.1_Missense_Mutation_p.R244K	p.R244K	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN			5	787	+		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)	244					Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	ENST00000281623.3	37	c.731G>A	CCDS3938.1	.	.	.	.	.	.	.	.	.	.	G	34	5.379550	0.95945	.	.	ENSG00000151876	ENST00000296812;ENST00000281623;ENST00000509134	T;T;T	0.46819	0.86;0.86;0.86	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.68329	0.2989	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.74674	0.918;0.978;0.984	T	0.68864	-0.5296	10	0.72032	D	0.01	-17.4958	20.012	0.97458	0.0:0.0:1.0:0.0	.	244;244;244	D6RAJ6;Q9UKT5;Q9UKT5-2	.;FBX4_HUMAN;.	K	244	ENSP00000296812:R244K;ENSP00000281623:R244K;ENSP00000421749:R244K	ENSP00000281623:R244K	R	+	2	0	FBXO4	41970000	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.274000	0.95731	2.731000	0.93534	0.655000	0.94253	AGA		0.383	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1			4	44	0	0	0	1	0	4	44				
TEX37	200523	broad.mit.edu	37	2	88828934	88828934	+	Missense_Mutation	SNP	A	A	G	rs569946183		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:88828934A>G	ENST00000303254.3	+	4	627	c.485A>G	c.(484-486)cAt>cGt	p.H162R		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	162						nucleus (GO:0005634)											CTTCATTGCCATATAGTCAAG	0.527													A|||	1	0.000199681	0.0	0.0	5008	,	,		20040	0.001		0.0	False		,,,				2504	0.0					ENST00000303254.3																			0											c.(484-486)cAt>cGt		testis expressed 37							84.0	79.0	81.0					2																	88828934		2203	4300	6503	SO:0001583	missense	200523							g.chr2:88828934A>G	AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 21kDa"""		"""chromosome 2 open reading frame 51"""	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.485A>G	2.37:g.88828934A>G	ENSP00000307142:p.His162Arg						p.H162R	NM_152670.2	NP_689883.1					4	627	+									Missense_Mutation	SNP	ENST00000303254.3	37	c.485A>G	CCDS2003.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.905216	0.00512	.	.	ENSG00000172073	ENST00000303254	T	0.41758	0.99	4.32	-8.64	0.00874	.	1.874520	0.02547	N	0.095222	T	0.19604	0.0471	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.26710	-1.0095	10	0.07325	T	0.83	3.6576	2.9211	0.05770	0.1502:0.2317:0.4114:0.2067	.	162	Q96LM6	TSC21_HUMAN	R	162	ENSP00000307142:H162R	ENSP00000307142:H162R	H	+	2	0	C2orf51	88610049	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.221000	0.09202	-2.480000	0.00523	-1.235000	0.01560	CAT		0.527	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252682.1	NM_152670		8	60	0	0	0	1	0	8	60				
NLN	57486	broad.mit.edu	37	5	65054572	65054572	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:65054572G>A	ENST00000380985.5	+	2	398	c.220G>A	c.(220-222)Gct>Act	p.A74T	NLN_ENST00000502464.1_Intron	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	74						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		GGTGTACGATGCTGTTGGAAT	0.443																																						ENST00000380985.5																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(220-222)Gct>Act		neurolysin (metallopeptidase M3 family)							134.0	118.0	124.0					5																	65054572		2203	4300	6503	SO:0001583	missense	57486				proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	g.chr5:65054572G>A	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.220G>A	5.37:g.65054572G>A	ENSP00000370372:p.Ala74Thr					NLN_ENST00000502464.1_Intron	p.A74T	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)	2	398	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	74					Q9ULJ4	Missense_Mutation	SNP	ENST00000380985.5	37	c.220G>A	CCDS3989.1	.	.	.	.	.	.	.	.	.	.	G	9.300	1.052820	0.19907	.	.	ENSG00000123213	ENST00000380985;ENST00000340159	T	0.09073	3.02	5.5	-0.267	0.12938	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.398662	0.27735	N	0.018075	T	0.03477	0.0100	N	0.16833	0.445	0.41420	D	0.987793	B;B	0.12013	0.0;0.005	B;B	0.04013	0.0;0.001	T	0.45891	-0.9230	10	0.12766	T	0.61	-0.0093	3.7645	0.08617	0.3257:0.0:0.3028:0.3714	.	74;74	Q9BYT8;Q9BQD0	NEUL_HUMAN;.	T	74	ENSP00000370372:A74T	ENSP00000339283:A74T	A	+	1	0	NLN	65090328	0.000000	0.05858	0.894000	0.35097	0.974000	0.67602	-0.259000	0.08721	0.008000	0.14787	0.655000	0.94253	GCT		0.443	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			7	117	0	0	0	1	0	7	117				
NOTCH3	4854	broad.mit.edu	37	19	15295128	15295128	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:15295128C>A	ENST00000263388.2	-	16	2619	c.2544G>T	c.(2542-2544)caG>caT	p.Q848H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	848					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CATTGATGTCCTGATCGCAGG	0.597																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(2542-2544)caG>caT		notch 3							73.0	54.0	60.0					19																	15295128		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15295128C>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2544G>T	19.37:g.15295128C>A	ENSP00000263388:p.Gln848His						p.Q848H	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		16	2619	-			848					Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.2544G>T	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431363	0.25813	.	.	ENSG00000074181	ENST00000263388	T	0.66815	-0.23	5.18	2.86	0.33363	.	0.000000	0.30791	N	0.008880	T	0.69278	0.3093	L	0.53249	1.67	0.29253	N	0.871865	B	0.29301	0.241	P	0.46419	0.516	T	0.66775	-0.5838	10	0.45353	T	0.12	.	8.5889	0.33674	0.0:0.6507:0.2664:0.0828	.	848	Q9UM47	NOTC3_HUMAN	H	848	ENSP00000263388:Q848H	ENSP00000263388:Q848H	Q	-	3	2	NOTCH3	15156128	0.898000	0.30612	0.998000	0.56505	0.002000	0.02628	-0.313000	0.08103	1.155000	0.42497	0.655000	0.94253	CAG		0.597	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		10	32	1	0	4.68919e-08	1	6.23169e-08	10	32				
SSPO	23145	broad.mit.edu	37	7	149482270	149482270	+	RNA	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:149482270T>C	ENST00000378016.2	+	0	2944							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGTGGGCAGTGGTACCTGCC	0.632																																						ENST00000378016.2																			0													SCO-spondin							100.0	107.0	105.0					7																	149482270		2185	4277	6462			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149482270T>C	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149482270T>C										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	2944	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.632	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				19	96	0	0	0	1	0	19	96				
RALGDS	5900	broad.mit.edu	37	9	135977032	135977032	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:135977032G>A	ENST00000372050.3	-	16	2350	c.2329C>T	c.(2329-2331)Cgc>Tgc	p.R777C	RALGDS_ENST00000393160.3_Missense_Mutation_p.R722C|RALGDS_ENST00000393157.3_Missense_Mutation_p.R776C|RALGDS_ENST00000372047.3_Missense_Mutation_p.R765C|RALGDS_ENST00000372062.3_Missense_Mutation_p.R748C|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Missense_Mutation_p.R848C	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	777					neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GAGACAGAGCGCTTGTGGGTG	0.652			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)	ENST00000393160.3				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		"""PMBL, Hodgkin Lymphona, """		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(2164-2166)Cgc>Tgc		ral guanine nucleotide dissociation stimulator							68.0	68.0	68.0					9																	135977032		2203	4300	6503	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135977032G>A	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.2329C>T	9.37:g.135977032G>A	ENSP00000361120:p.Arg777Cys					RALGDS_ENST00000542690.1_Missense_Mutation_p.R848C|RALGDS_ENST00000372047.3_Missense_Mutation_p.R765C|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372050.3_Missense_Mutation_p.R777C|RALGDS_ENST00000372062.3_Missense_Mutation_p.R748C|RALGDS_ENST00000393157.3_Missense_Mutation_p.R776C	p.R722C	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	16	2517	-			777					B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.2164C>T	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170637	0.78452	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000393157;ENST00000542690;ENST00000372062	T;T;T;T;T;T	0.41758	1.48;1.0;1.49;1.46;1.65;0.99	5.12	3.23	0.37069	.	0.299049	0.31884	N	0.006902	T	0.61652	0.2364	M	0.78049	2.395	0.58432	D	0.999999	B;D;D;D;D;D;D	0.89917	0.391;1.0;1.0;1.0;1.0;1.0;1.0	B;D;D;D;D;D;D	0.97110	0.054;0.997;0.999;0.999;0.997;0.997;1.0	T	0.62666	-0.6806	10	0.87932	D	0	.	9.344	0.38098	0.0761:0.0:0.78:0.1438	.	848;748;765;722;776;765;777	F5H6M6;E7ER93;Q8TEK9;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;.;GNDS_HUMAN	C	777;765;722;776;848;748	ENSP00000361120:R777C;ENSP00000361117:R765C;ENSP00000376867:R722C;ENSP00000376864:R776C;ENSP00000437518:R848C;ENSP00000361132:R748C	ENSP00000361117:R765C	R	-	1	0	RALGDS	134966853	1.000000	0.71417	0.998000	0.56505	0.791000	0.44710	7.851000	0.86920	0.625000	0.30304	0.462000	0.41574	CGC		0.652	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		15	76	0	0	0	1	0	15	76				
THSD1	55901	broad.mit.edu	37	13	52972134	52972134	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:52972134G>T	ENST00000258613.4	-	3	432	c.254C>A	c.(253-255)aCa>aAa	p.T85K	THSD1_ENST00000544466.1_Intron|THSD1_ENST00000349258.4_Missense_Mutation_p.T85K|RNY4P24_ENST00000362735.1_RNA	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	85					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		AAACTTTAGTGTTCCCTGGGA	0.498																																						ENST00000349258.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(253-255)aCa>aAa		thrombospondin, type I, domain containing 1							139.0	118.0	125.0					13																	52972134		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52972134G>T	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.254C>A	13.37:g.52972134G>T	ENSP00000258613:p.Thr85Lys					THSD1_ENST00000544466.1_Intron|THSD1_ENST00000258613.4_Missense_Mutation_p.T85K	p.T85K	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	3	798	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	85					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.254C>A	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.770247	0.49680	.	.	ENSG00000136114	ENST00000349258;ENST00000258613;ENST00000378095	T;T	0.17528	2.27;2.46	5.5	3.72	0.42706	.	0.252766	0.39274	N	0.001418	T	0.35970	0.0950	M	0.70595	2.14	0.09310	N	0.99999	D;D	0.89917	1.0;0.996	D;P	0.85130	0.997;0.802	T	0.11743	-1.0575	10	0.62326	D	0.03	-10.4779	7.0389	0.25008	0.1486:0.2663:0.5851:0.0	.	85;85	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	K	85	ENSP00000340650:T85K;ENSP00000258613:T85K	ENSP00000258613:T85K	T	-	2	0	THSD1	51870135	0.323000	0.24643	0.767000	0.31495	0.889000	0.51656	0.721000	0.25911	0.658000	0.30925	0.561000	0.74099	ACA		0.498	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			5	82	1	0	0.000602214	1	0.000673014	5	82				
OR4K5	79317	broad.mit.edu	37	14	20389120	20389120	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:20389120G>A	ENST00000315915.4	+	1	380	c.355G>A	c.(355-357)Gcc>Acc	p.A119T		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTTTCGATGGCCTATGACAG	0.458																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(355-357)Gcc>Acc		olfactory receptor, family 4, subfamily K, member 5							218.0	221.0	220.0					14																	20389120		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389120G>A	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.355G>A	14.37:g.20389120G>A	ENSP00000319511:p.Ala119Thr						p.A119T	NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	380	+	all_cancers(95;0.00108)		119					Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.355G>A	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	20.3	3.961326	0.74016	.	.	ENSG00000176281	ENST00000315915	T	0.54071	0.59	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000128	T	0.79845	0.4516	H	0.98155	4.16	0.39704	D	0.971233	D	0.76494	0.999	D	0.68621	0.959	D	0.85685	0.1303	10	0.87932	D	0	.	9.702	0.40192	0.0:0.0:0.7928:0.2072	.	119	Q8NGD3	OR4K5_HUMAN	T	119	ENSP00000319511:A119T	ENSP00000319511:A119T	A	+	1	0	OR4K5	19458960	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	3.163000	0.50763	2.269000	0.75478	0.655000	0.94253	GCC		0.458	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		18	342	0	0	0	1	0	18	342				
OR8H2	390151	broad.mit.edu	37	11	55873016	55873016	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:55873016G>T	ENST00000313503.1	+	1	498	c.498G>T	c.(496-498)ttG>ttT	p.L166F		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L166F(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGAGCAGATTGCATTTCTACG	0.423										HNSCC(53;0.14)																												ENST00000313503.1																			2	Substitution - Missense(2)	p.L166F(2)	lung(2)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(496-498)ttG>ttT		olfactory receptor, family 8, subfamily H, member 2							254.0	228.0	237.0					11																	55873016		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55873016G>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.498G>T	11.37:g.55873016G>T	ENSP00000323982:p.Leu166Phe	HNSCC(53;0.14)					p.L166F	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	498	+	Esophageal squamous(21;0.00693)		166					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.498G>T	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	g	13.54	2.267806	0.40095	.	.	ENSG00000181767	ENST00000313503	T	0.00253	8.43	3.35	-1.64	0.08318	GPCR, rhodopsin-like superfamily (1);	0.172224	0.27539	N	0.018915	T	0.00356	0.0011	M	0.75884	2.315	0.09310	N	1	D	0.67145	0.996	D	0.72625	0.978	T	0.51276	-0.8726	10	0.66056	D	0.02	.	3.9229	0.09251	0.0767:0.2153:0.3988:0.3092	.	166	Q8N162	OR8H2_HUMAN	F	166	ENSP00000323982:L166F	ENSP00000323982:L166F	L	+	3	2	OR8H2	55629592	0.000000	0.05858	0.001000	0.08648	0.078000	0.17371	-0.120000	0.10660	-0.427000	0.07350	0.440000	0.28878	TTG		0.423	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		39	151	1	0	1.04594e-18	1	1.61591e-18	39	151				
OR2T11	127077	broad.mit.edu	37	1	248790290	248790290	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:248790290T>A	ENST00000330803.2	-	1	201	c.140A>T	c.(139-141)cAg>cTg	p.Q47L		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAGTCCACCTGAATCAAGAA	0.498																																						ENST00000330803.2																			0				breast(1)|large_intestine(5)|lung(20)|skin(2)	28						c.(139-141)cAg>cTg		olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)							64.0	72.0	69.0					1																	248790290		2050	4238	6288	SO:0001583	missense	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248790290T>A	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.140A>T	1.37:g.248790290T>A	ENSP00000328934:p.Gln47Leu						p.Q47L	NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	201	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		47					Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	c.140A>T	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	1.860	-0.462937	0.04476	.	.	ENSG00000183130	ENST00000330803	T	0.02763	4.17	4.62	0.917	0.19380	GPCR, rhodopsin-like superfamily (1);	0.355112	0.20255	N	0.095982	T	0.01320	0.0043	N	0.03903	-0.33	0.09310	N	1	B	0.23591	0.088	B	0.20184	0.028	T	0.50259	-0.8849	10	0.17369	T	0.5	.	8.6251	0.33883	0.0:0.2415:0.0:0.7585	.	47	Q8NH01	O2T11_HUMAN	L	47	ENSP00000328934:Q47L	ENSP00000328934:Q47L	Q	-	2	0	OR2T11	246856913	0.000000	0.05858	0.028000	0.17463	0.199000	0.23934	-2.069000	0.01381	0.274000	0.22072	-0.261000	0.10672	CAG		0.498	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		7	118	0	0	0	1	0	7	118				
ANO5	203859	broad.mit.edu	37	11	22249073	22249073	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:22249073G>A	ENST00000324559.8	+	7	906	c.589G>A	c.(589-591)Gag>Aag	p.E197K		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	197					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACATCGGCAGGAGCTCTTCCT	0.453																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(589-591)Gag>Aag		anoctamin 5							111.0	109.0	110.0					11																	22249073		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22249073G>A	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.589G>A	11.37:g.22249073G>A	ENSP00000315371:p.Glu197Lys						p.E197K	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			7	906	+			197						Missense_Mutation	SNP	ENST00000324559.8	37	c.589G>A	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	35	5.529019	0.96446	.	.	ENSG00000171714	ENST00000324559	T	0.69306	-0.39	5.75	5.75	0.90469	.	0.043011	0.85682	D	0.000000	T	0.78855	0.4349	M	0.69248	2.105	0.58432	D	0.999999	D	0.57571	0.98	P	0.61328	0.887	T	0.73193	-0.4060	10	0.22706	T	0.39	.	19.9375	0.97146	0.0:0.0:1.0:0.0	.	197	Q75V66	ANO5_HUMAN	K	197	ENSP00000315371:E197K	ENSP00000315371:E197K	E	+	1	0	ANO5	22205649	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.444000	0.97578	2.717000	0.92951	0.650000	0.86243	GAG		0.453	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		9	100	0	0	0	1	0	9	100				
WNK1	65125	broad.mit.edu	37	12	1005293	1005293	+	Silent	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:1005293A>G	ENST00000315939.6	+	24	6283	c.5640A>G	c.(5638-5640)gcA>gcG	p.A1880A	WNK1_ENST00000530271.2_Silent_p.A2378A|WNK1_ENST00000535572.1_Silent_p.A1632A|WNK1_ENST00000340908.4_Silent_p.A1473A|WNK1_ENST00000537687.1_Silent_p.A2140A	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1880					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAGAAGATGCAAAGTCTGTTC	0.413																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(6418-6420)gcA>gcG		WNK lysine deficient protein kinase 1							90.0	91.0	91.0					12																	1005293		2203	4300	6503	SO:0001819	synonymous_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:1005293A>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.5640A>G	12.37:g.1005293A>G						WNK1_ENST00000535572.1_Silent_p.A1632A|WNK1_ENST00000530271.2_Silent_p.A2378A|WNK1_ENST00000315939.6_Silent_p.A1880A|WNK1_ENST00000340908.4_Silent_p.A1473A	p.A2140A	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		24	7063	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1880					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	37	c.6420A>G	CCDS8506.1																																																																																				0.413	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		6	64	0	0	0	1	0	6	64				
OR2AK2	391191	broad.mit.edu	37	1	248129316	248129316	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:248129316C>T	ENST00000366480.3	+	1	782	c.683C>T	c.(682-684)gCc>gTc	p.A228V	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCATTCCTAGCCATTCTGGCT	0.463																																					Melanoma(45;390 1181 23848 28461 41504)	ENST00000366480.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(682-684)gCc>gTc		olfactory receptor, family 2, subfamily AK, member 2							99.0	85.0	90.0					1																	248129316		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248129316C>T	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.683C>T	1.37:g.248129316C>T	ENSP00000355436:p.Ala228Val					OR2L13_ENST00000366478.2_Intron	p.A228V	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	782	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		228					B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.683C>T	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	5.249	0.231364	0.09969	.	.	ENSG00000187080	ENST00000366480	T	0.32988	1.43	3.04	-3.8	0.04307	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.09247	0.0228	N	0.01202	-0.96	0.09310	N	1	P	0.46020	0.871	P	0.49799	0.622	T	0.09079	-1.0691	9	0.02654	T	1	.	0.968	0.01410	0.1607:0.1618:0.3235:0.354	.	228	Q8NG84	O2AK2_HUMAN	V	228	ENSP00000355436:A228V	ENSP00000355436:A228V	A	+	2	0	OR2AK2	246195939	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-1.002000	0.03686	-0.655000	0.05387	0.462000	0.41574	GCC		0.463	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		19	58	0	0	0	1	0	19	58				
RAB3IP	117177	broad.mit.edu	37	12	70209175	70209175	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:70209175G>C	ENST00000247833.7	+	11	1708	c.1332G>C	c.(1330-1332)ttG>ttC	p.L444F	RAB3IP_ENST00000483530.2_3'UTR|RAB3IP_ENST00000553099.1_Missense_Mutation_p.L238F|RAB3IP_ENST00000325555.9_Missense_Mutation_p.L238F|RAB3IP_ENST00000550536.1_Missense_Mutation_p.L460F|RAB3IP_ENST00000362025.5_3'UTR|RAB3IP_ENST00000551641.1_Missense_Mutation_p.L238F|RAB3IP_ENST00000550847.1_Missense_Mutation_p.L151F|AC025263.3_ENST00000550437.1_Intron					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TTATGCAGTTGAGAAAAGAGA	0.378																																						ENST00000550536.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1378-1380)ttG>ttC		RAB3A interacting protein							185.0	175.0	178.0					12																	70209175		2203	4300	6503	SO:0001583	missense	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70209175G>C		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"""rabin3"""	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.1332G>C	12.37:g.70209175G>C	ENSP00000247833:p.Leu444Phe					RAB3IP_ENST00000362025.5_3'UTR|RAB3IP_ENST00000247833.7_Missense_Mutation_p.L444F|AC025263.3_ENST00000550437.1_Intron|RAB3IP_ENST00000551641.1_Missense_Mutation_p.L238F|RAB3IP_ENST00000553099.1_Missense_Mutation_p.L238F|RAB3IP_ENST00000325555.9_Missense_Mutation_p.L238F|RAB3IP_ENST00000550847.1_Missense_Mutation_p.L151F|RAB3IP_ENST00000483530.2_3'UTR	p.L460F	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		11	1837	+	Esophageal squamous(21;0.187)		460						Missense_Mutation	SNP	ENST00000247833.7	37	c.1380G>C	CCDS8995.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315165	0.60524	.	.	ENSG00000127328	ENST00000247833;ENST00000325555;ENST00000550536;ENST00000551641;ENST00000553099;ENST00000550847	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.86	3.97	0.46021	.	0.000000	0.85682	D	0.000000	T	0.68146	0.2969	M	0.86953	2.85	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	T	0.69228	-0.5200	10	0.87932	D	0	-5.0725	7.2294	0.26034	0.1466:0.0:0.7189:0.1346	.	460	Q96QF0	RAB3I_HUMAN	F	444;238;460;238;238;151	ENSP00000247833:L444F;ENSP00000323349:L238F;ENSP00000447300:L460F;ENSP00000448773:L238F;ENSP00000448027:L238F;ENSP00000448102:L151F	ENSP00000247833:L444F	L	+	3	2	RAB3IP	68495442	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.643000	0.37217	0.753000	0.32945	0.591000	0.81541	TTG		0.378	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		7	76	0	0	0	1	0	7	76				
UXT	8409	broad.mit.edu	37	X	47518279	47518279	+	Silent	SNP	T	T	C	rs376885210		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:47518279T>C	ENST00000333119.3	-	2	103	c.48A>G	c.(46-48)aaA>aaG	p.K16K	RP1-212G6.7_ENST00000590504.1_RNA|UXT_ENST00000460840.1_5'Flank|UXT_ENST00000335890.2_Silent_p.K28K|RP1-212G6.7_ENST00000591832.1_RNA	NM_004182.3	NP_004173.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	16					centrosome organization (GO:0051297)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)|microtubule binding (GO:0008017)|RNA polymerase II transcription corepressor activity (GO:0001106)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						AGCGCAGCACTTTCTCCCCCG	0.652																																						ENST00000335890.2																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						c.(82-84)aaA>aaG		ubiquitously-expressed, prefoldin-like chaperone		T	,	0,3835		0,0,0,1632,571	69.0	51.0	57.0		48,84	4.1	1.0	X		57	1,6727		0,0,1,2428,1871	no	coding-synonymous,coding-synonymous	UXT	NM_004182.2,NM_153477.1	,	0,0,1,4060,2442	CC,CT,C,TT,T		0.0149,0.0,0.0095	,	16/158,28/170	47518279	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	8409				centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding	g.chrX:47518279T>C	AF092737	CCDS14284.1, CCDS14285.1	Xp11.23-p11.22	2011-11-21	2011-11-21		ENSG00000126756	ENSG00000126756			12641	protein-coding gene	gene with protein product	"""androgen receptor trapped clone 27"", ""SKP2-associated alpha PFD 1"""	300234	"""ubiquitously-expressed transcript"""			10087202, 16221885	Standard	NM_004182		Approved	ART-27, STAP1	uc004dim.3	Q9UBK9	OTTHUMG00000021453	ENST00000333119.3:c.48A>G	X.37:g.47518279T>C						RP1-212G6.7_ENST00000591832.1_RNA|RP1-212G6.7_ENST00000590504.1_RNA|UXT_ENST00000333119.3_Silent_p.K16K	p.K28K	NM_153477.2	NP_705582.1	Q9UBK9	UXT_HUMAN			1	237	-			16					B2R561|Q5JZG3|Q9Y6E5	Silent	SNP	ENST00000333119.3	37	c.84A>G	CCDS14285.1																																																																																				0.652	UXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056440.1	NM_153477		5	10	0	0	0	1	0	5	10				
CCDC108	255101	broad.mit.edu	37	2	219900384	219900384	+	Silent	SNP	G	G	A	rs368785817		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:219900384G>A	ENST00000341552.5	-	5	443	c.360C>T	c.(358-360)ccC>ccT	p.P120P	CCDC108_ENST00000324264.6_Silent_p.P55P|CCDC108_ENST00000295729.2_Silent_p.P55P|CCDC108_ENST00000409865.3_Silent_p.P109P|CCDC108_ENST00000441968.1_Silent_p.P120P|CCDC108_ENST00000453220.1_Silent_p.P120P|CCDC108_ENST00000410037.1_Silent_p.P55P	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	120						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGAGCTTGCGGGCTGTTCAG	0.567													A|||	1	0.000199681	0.0	0.0	5008	,	,		18219	0.0		0.0	False		,,,				2504	0.001					ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(358-360)ccC>ccT		coiled-coil domain containing 108		A	,	1,4405	826.1+/-416.6	0,1,2202	86.0	76.0	79.0		165,360	-7.2	0.0	2		79	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CCDC108	NM_152389.2,NM_194302.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	55/165,120/1926	219900384	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219900384G>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.360C>T	2.37:g.219900384G>A						CCDC108_ENST00000295729.2_Silent_p.P55P|CCDC108_ENST00000453220.1_Silent_p.P120P|CCDC108_ENST00000409865.3_Silent_p.P109P|CCDC108_ENST00000441968.1_Silent_p.P120P|CCDC108_ENST00000324264.6_Silent_p.P55P|CCDC108_ENST00000410037.1_Silent_p.P55P	p.P120P	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	443	-		Renal(207;0.0915)	120					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.360C>T	CCDS2430.2																																																																																				0.567	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		13	53	0	0	0	1	0	13	53				
C4orf45	152940	broad.mit.edu	37	4	159894304	159894304	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:159894304C>A	ENST00000434826.2	-	2	308	c.224G>T	c.(223-225)aGt>aTt	p.S75I	C4orf45_ENST00000508011.1_5'UTR	NM_152543.2	NP_689756.2	Q96LM5	CD045_HUMAN	chromosome 4 open reading frame 45	75			S -> G (in dbSNP:rs662473). {ECO:0000269|PubMed:14702039}.							large_intestine(2)|lung(3)	5						ACCAATTTCACTGACGTACTC	0.373																																						ENST00000434826.2																			0				large_intestine(2)|lung(3)	5						c.(223-225)aGt>aTt		chromosome 4 open reading frame 45							98.0	83.0	88.0					4																	159894304		1823	4089	5912	SO:0001583	missense	152940							g.chr4:159894304C>A		CCDS47156.1	4q32.1	2012-03-02			ENSG00000164123	ENSG00000164123			26342	protein-coding gene	gene with protein product							Standard	NM_152543		Approved	FLJ25371	uc003iqf.1	Q96LM5	OTTHUMG00000161988	ENST00000434826.2:c.224G>T	4.37:g.159894304C>A	ENSP00000412215:p.Ser75Ile					C4orf45_ENST00000508011.1_5'UTR	p.S75I	NM_152543.2	NP_689756.2	Q96LM5	CD045_HUMAN			2	308	-			75		S -> G (in dbSNP:rs662473).			A8MPU3|C9J0T8	Missense_Mutation	SNP	ENST00000434826.2	37	c.224G>T	CCDS47156.1	.	.	.	.	.	.	.	.	.	.	C	8.484	0.860455	0.17178	.	.	ENSG00000164123	ENST00000434826	T	0.14640	2.49	5.69	4.83	0.62350	.	0.181563	0.39759	N	0.001270	T	0.07234	0.0183	N	0.08118	0	0.09310	N	0.999998	B	0.10296	0.003	B	0.04013	0.001	T	0.33854	-0.9852	9	.	.	.	-19.3205	12.5583	0.56267	0.0:0.833:0.167:0.0	.	75	Q96LM5	CD045_HUMAN	I	75	ENSP00000412215:S75I	.	S	-	2	0	C4orf45	160113754	0.009000	0.17119	0.539000	0.28077	0.039000	0.13416	1.387000	0.34430	1.358000	0.45922	0.655000	0.94253	AGT		0.373	C4orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366636.1	NM_152543		3	17	1	0	0.115264	1	0.117444	3	17				
CCDC171	203238	broad.mit.edu	37	9	15778999	15778999	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:15778999G>T	ENST00000380701.3	+	20	3260	c.2932G>T	c.(2932-2934)Gga>Tga	p.G978*	RNU6-14P_ENST00000384630.1_RNA|CCDC171_ENST00000297641.3_Nonsense_Mutation_p.G978*	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	978																	GCAAATACTTGGATTTACACA	0.383																																						ENST00000380701.3																			0											c.(2932-2934)Gga>Tga		coiled-coil domain containing 171							67.0	67.0	67.0					9																	15778999		2203	4300	6503	SO:0001587	stop_gained	203238							g.chr9:15778999G>T	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.2932G>T	9.37:g.15778999G>T	ENSP00000370077:p.Gly978*					CCDC171_ENST00000297641.3_Nonsense_Mutation_p.G978*	p.G978*	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			20	3260	+			978					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Nonsense_Mutation	SNP	ENST00000380701.3	37	c.2932G>T	CCDS6481.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.514438|12.514438	0.99674|0.99674	.|.	.|.	ENSG00000164989|ENSG00000164989	ENST00000297641;ENST00000380689;ENST00000380701|ENST00000449575;ENST00000432954	.|T	.|0.51574	.|0.7	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.192427|.	0.44285|.	D|.	0.000475|.	.|T	.|0.41259	.|0.1151	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.12863	.|-1.0531	.|6	0.26408|0.07175	T|T	0.33|0.84	-10.2518|-10.2518	17.4597|17.4597	0.87617|0.87617	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|F	978;245;978|217;31	.|ENSP00000399526:L31F	ENSP00000297641:G978X|ENSP00000399526:L31F	G|L	+|+	1|3	0|2	C9orf93|C9orf93	15768999|15768999	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.135000|7.135000	0.77276|0.77276	2.541000|2.541000	0.85698|0.85698	0.655000|0.655000	0.94253|0.94253	GGA|TTG		0.383	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		11	36	1	0	7.03913e-09	1	9.65639e-09	11	36				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070625	32070625	+	RNA	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:32070625A>G	ENST00000566806.1	-	0	499																											GCTTCTGGATACACCTTCACC	0.532																																						ENST00000566806.1																			0																																																			28313							g.chr16:32070625A>G																													16.37:g.32070625A>G														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.532	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			6	20	0	0	0	1	0	6	20				
CCDC15	80071	broad.mit.edu	37	11	124845049	124845049	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:124845049A>T	ENST00000344762.5	+	5	833	c.574A>T	c.(574-576)Aaa>Taa	p.K192*	CCDC15_ENST00000529051.1_Nonsense_Mutation_p.K192*	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	192						centrosome (GO:0005813)		p.K194fs*29(5)|p.S196fs*6(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AACCGTGATTAAAAAAAAGGG	0.373																																						ENST00000529051.1																			7	Deletion - Frameshift(5)|Insertion - Frameshift(2)	p.K194fs*29(5)|p.S196fs*6(2)	large_intestine(7)	central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(574-576)Aaa>Taa		coiled-coil domain containing 15																																				SO:0001587	stop_gained	80071					centrosome		g.chr11:124845049A>T	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.574A>T	11.37:g.124845049A>T	ENSP00000341684:p.Lys192*					CCDC15_ENST00000344762.5_Nonsense_Mutation_p.K192*	p.K192*			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	5	833	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	192					Q9H8U7	Nonsense_Mutation	SNP	ENST00000344762.5	37	c.574A>T	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.063608	0.76187	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	.	.	.	5.16	-10.3	0.00346	.	1.978180	0.02338	N	0.074616	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	0.0299	6.3636	0.21443	0.2614:0.1643:0.4925:0.0817	.	.	.	.	X	192	.	ENSP00000341684:K192X	K	+	1	0	CCDC15	124350259	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.280000	0.01158	-3.350000	0.00181	-2.125000	0.00346	AAA		0.373	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		3	17	0	0	0	1	0	3	17				
KIF4B	285643	broad.mit.edu	37	5	154394892	154394892	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:154394892G>A	ENST00000435029.4	+	1	1633	c.1473G>A	c.(1471-1473)gcG>gcA	p.A491A		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	491					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGATACTGCGGTAGAAGAAG	0.443																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(1471-1473)gcG>gcA		kinesin family member 4B							100.0	110.0	106.0					5																	154394892		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154394892G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1473G>A	5.37:g.154394892G>A							p.A491A	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	1633	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	491						Silent	SNP	ENST00000435029.4	37	c.1473G>A	CCDS47324.1																																																																																				0.443	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			12	91	0	0	0	1	0	12	91				
MAPK6	5597	broad.mit.edu	37	15	52338810	52338810	+	Silent	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:52338810T>C	ENST00000261845.5	+	2	960	c.153T>C	c.(151-153)atT>atC	p.I51I		NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	51	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		TCAAGAAAATTGTCCTTACTG	0.383																																						ENST00000261845.5																			0				breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20						c.(151-153)atT>atC		mitogen-activated protein kinase 6							111.0	110.0	110.0					15																	52338810		2195	4293	6488	SO:0001819	synonymous_variant	5597				cell cycle		ATP binding|MAP kinase activity	g.chr15:52338810T>C	L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"""Mitogen-activated protein kinase cascade / Kinases"""	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.153T>C	15.37:g.52338810T>C							p.I51I	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN		all cancers(107;0.0028)	2	960	+			51			Protein kinase.		B2R945|B5BU65|Q68DH4|Q8IYN8	Silent	SNP	ENST00000261845.5	37	c.153T>C	CCDS10147.1																																																																																				0.383	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	NM_002748		19	112	0	0	0	1	0	19	112				
CYP2C19	1557	broad.mit.edu	37	10	96541650	96541650	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:96541650T>C	ENST00000371321.3	+	5	797	c.715T>C	c.(715-717)Ttt>Ctt	p.F239L	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	239					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	AAACCTTGCTTTTATGGAAAG	0.318																																						ENST00000371321.3																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.(715-717)Ttt>Ctt		cytochrome P450, family 2, subfamily C, polypeptide 19	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						75.0	79.0	78.0					10																	96541650		2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96541650T>C	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.715T>C	10.37:g.96541650T>C	ENSP00000360372:p.Phe239Leu					CYP2C19_ENST00000464755.1_3'UTR	p.F239L	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	5	797	+		Colorectal(252;0.09)	239					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.715T>C	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	T	3.733	-0.055138	0.07362	.	.	ENSG00000165841	ENST00000371321	T	0.11712	2.75	4.13	-8.27	0.01017	.	417.960000	0.01109	U	0.005529	T	0.04407	0.0121	N	0.17594	0.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35599	-0.9782	10	0.11794	T	0.64	.	1.0656	0.01610	0.3283:0.1583:0.3328:0.1806	.	239	P33261	CP2CJ_HUMAN	L	239	ENSP00000360372:F239L	ENSP00000360372:F239L	F	+	1	0	CYP2C19	96531640	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.767000	0.04720	-1.439000	0.01962	-0.489000	0.04712	TTT		0.318	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		8	46	0	0	0	1	0	8	46				
FAM47A	158724	broad.mit.edu	37	X	34148482	34148482	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:34148482G>T	ENST00000346193.3	-	1	1965	c.1914C>A	c.(1912-1914)acC>acA	p.T638T		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	638										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGTCCTCATGGGTTGCTCTGT	0.453																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(1912-1914)acC>acA		family with sequence similarity 47, member A							91.0	87.0	88.0					X																	34148482		2136	4253	6389	SO:0001819	synonymous_variant	158724							g.chrX:34148482G>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1914C>A	X.37:g.34148482G>T							p.T638T	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	1965	-			638					A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.1914C>A	CCDS43926.1																																																																																				0.453	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		6	33	1	0	3.59834e-05	1	4.23827e-05	6	33				
PLXNC1	10154	broad.mit.edu	37	12	94653490	94653490	+	Missense_Mutation	SNP	G	G	T	rs372867067		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:94653490G>T	ENST00000258526.4	+	19	3480	c.3231G>T	c.(3229-3231)aaG>aaT	p.K1077N	PLXNC1_ENST00000551495.1_3'UTR|PLXNC1_ENST00000547057.1_Missense_Mutation_p.K124N|PLXNC1_ENST00000545312.1_5'Flank	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1077					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAAAGCAGAAGAACTTTTCTG	0.418																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3229-3231)aaG>aaT		plexin C1		G	ASN/LYS	0,4406		0,0,2203	100.0	102.0	101.0		3231	4.2	1.0	12		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLXNC1	NM_005761.2	94	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	1077/1569	94653490	1,13005	2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94653490G>T	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3231G>T	12.37:g.94653490G>T	ENSP00000258526:p.Lys1077Asn					PLXNC1_ENST00000551495.1_3'UTR|PLXNC1_ENST00000547057.1_Missense_Mutation_p.K124N	p.K1077N	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			19	3480	+			1077					Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.3231G>T	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497382	0.64186	0.0	1.16E-4	ENSG00000136040	ENST00000258526;ENST00000547057	T;T	0.12879	2.64;2.64	6.03	4.16	0.48862	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.124836	0.64402	D	0.000001	T	0.24812	0.0602	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.972;1.0	P;D	0.77557	0.895;0.99	T	0.02661	-1.1127	10	0.87932	D	0	.	4.6739	0.12703	0.2976:0.1555:0.5469:0.0	.	124;1077	B4DHQ7;O60486	.;PLXC1_HUMAN	N	1077;124	ENSP00000258526:K1077N;ENSP00000446720:K124N	ENSP00000258526:K1077N	K	+	3	2	PLXNC1	93177621	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.673000	0.37534	0.832000	0.34804	0.655000	0.94253	AAG		0.418	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			17	66	1	0	2.94398e-08	1	3.94484e-08	17	66				
DNAH5	1767	broad.mit.edu	37	5	13922416	13922416	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:13922416C>G	ENST00000265104.4	-	5	564	c.460G>C	c.(460-462)Gat>Cat	p.D154H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	154	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTGCCGCATCTAACATGTTA	0.463									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(460-462)Gat>Cat		dynein, axonemal, heavy chain 5							43.0	41.0	42.0					5																	13922416		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13922416C>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.460G>C	5.37:g.13922416C>G	ENSP00000265104:p.Asp154His						p.D154H	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			5	564	-	Lung NSC(4;0.00476)		154			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.460G>C	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	.	16.46	3.130350	0.56721	.	.	ENSG00000039139	ENST00000265104	T	0.25749	1.78	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.57095	0.2030	M	0.85373	2.75	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.62982	-0.6738	10	0.72032	D	0.01	.	19.504	0.95108	0.0:1.0:0.0:0.0	.	154	Q8TE73	DYH5_HUMAN	H	154	ENSP00000265104:D154H	ENSP00000265104:D154H	D	-	1	0	DNAH5	13975416	1.000000	0.71417	0.065000	0.19835	0.047000	0.14425	4.736000	0.62059	2.610000	0.88304	0.561000	0.74099	GAT		0.463	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		8	36	0	0	0	1	0	8	36				
ATP2B3	492	broad.mit.edu	37	X	152823749	152823749	+	Silent	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:152823749C>G	ENST00000349466.2	+	16	2939	c.2613C>G	c.(2611-2613)gcC>gcG	p.A871A	ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000263519.4_Silent_p.A871A|ATP2B3_ENST00000370181.2_Silent_p.A857A|ATP2B3_ENST00000393842.1_Silent_p.A857A|ATP2B3_ENST00000370186.1_Silent_p.A857A|ATP2B3_ENST00000359149.3_Silent_p.A871A			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	871					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCACAGGTGCCTGCATTACTC	0.557																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(2569-2571)gcC>gcG		ATPase, Ca++ transporting, plasma membrane 3							147.0	108.0	121.0					X																	152823749		2203	4300	6503	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152823749C>G	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2613C>G	X.37:g.152823749C>G						ATP2B3_ENST00000370181.2_Silent_p.A857A|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000359149.3_Silent_p.A871A|ATP2B3_ENST00000263519.4_Silent_p.A871A|ATP2B3_ENST00000349466.2_Silent_p.A871A|ATP2B3_ENST00000393842.1_Silent_p.A857A	p.A857A			Q16720	AT2B3_HUMAN			15	2897	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		871					B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.2571C>G	CCDS35440.1																																																																																				0.557	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		6	38	0	0	0	1	0	6	38				
RPLP0P6	220717	broad.mit.edu	37	2	38709067	38709067	+	lincRNA	SNP	A	A	G	rs113173138		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:38709067A>G	ENST00000417039.1	-	0	696																											ATGATTATCCAAAATGTTTCA	0.537																																						ENST00000417039.1																			0																																																			220717							g.chr2:38709067A>G																													2.37:g.38709067A>G														0	696	-									RNA	SNP	ENST00000417039.1	37																																																																																						0.537	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			9	40	0	0	0	1	0	9	40				
SMYD1	150572	broad.mit.edu	37	2	88383887	88383887	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:88383887C>T	ENST00000419482.2	+	2	275	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	MIR4780_ENST00000584268.1_RNA|SMYD1_ENST00000438570.1_Missense_Mutation_p.R64C|SMYD1_ENST00000444564.2_Missense_Mutation_p.R64C|SMYD1_ENST00000468008.1_3'UTR	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	64	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GAAGCTCCATCGCTGTGGGCA	0.507																																						ENST00000419482.2																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(190-192)Cgc>Tgc		SET and MYND domain containing 1							107.0	91.0	96.0					2																	88383887		2203	4300	6503	SO:0001583	missense	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88383887C>T	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.190C>T	2.37:g.88383887C>T	ENSP00000393453:p.Arg64Cys					SMYD1_ENST00000444564.2_Missense_Mutation_p.R64C|SMYD1_ENST00000438570.1_Missense_Mutation_p.R64C|SMYD1_ENST00000468008.1_3'UTR	p.R64C	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN			2	275	+			64					A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	c.190C>T	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478248	0.84747	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000438570	T;T;T	0.14391	2.51;2.51;2.51	5.78	5.78	0.91487	SET domain (2);Zinc finger, MYND-type (3);	0.102401	0.64402	D	0.000003	T	0.46073	0.1374	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.64687	0.717;0.928	T	0.53913	-0.8371	10	0.87932	D	0	-16.9008	18.9891	0.92784	0.0:1.0:0.0:0.0	.	64;64	Q8NB12;C9JUP3	SMYD1_HUMAN;.	C	64	ENSP00000393453:R64C;ENSP00000407888:R64C;ENSP00000387482:R64C	ENSP00000393453:R64C	R	+	1	0	SMYD1	88165002	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.719000	0.54926	2.736000	0.93811	0.555000	0.69702	CGC		0.507	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		11	63	0	0	0	1	0	11	63				
TYK2	7297	broad.mit.edu	37	19	10488920	10488920	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:10488920C>A	ENST00000525621.1	-	3	644	c.163G>T	c.(163-165)Gaa>Taa	p.E55*	TYK2_ENST00000524462.1_Intron|TYK2_ENST00000529370.1_Nonsense_Mutation_p.E55*|TYK2_ENST00000264818.6_Nonsense_Mutation_p.E55*	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	55	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			ATGCAGACTTCCTCAGCTGTC	0.617																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(163-165)Gaa>Taa		tyrosine kinase 2							89.0	73.0	78.0					19																	10488920		2203	4300	6503	SO:0001587	stop_gained	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10488920C>A		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.163G>T	19.37:g.10488920C>A	ENSP00000431885:p.Glu55*					TYK2_ENST00000264818.6_Nonsense_Mutation_p.E55*|TYK2_ENST00000529370.1_Nonsense_Mutation_p.E55*|TYK2_ENST00000524462.1_Intron	p.E55*	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		3	644	-			55			FERM.		Q6QB10|Q96CH0	Nonsense_Mutation	SNP	ENST00000525621.1	37	c.163G>T	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	c	32	5.188063	0.94923	.	.	ENSG00000105397	ENST00000525621;ENST00000264818;ENST00000529370;ENST00000531836;ENST00000530829	.	.	.	4.66	4.66	0.58398	.	0.576850	0.14612	N	0.308988	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-11.915	13.4798	0.61328	0.0:1.0:0.0:0.0	.	.	.	.	X	55	.	ENSP00000264818:E55X	E	-	1	0	TYK2	10349920	1.000000	0.71417	0.649000	0.29536	0.048000	0.14542	4.363000	0.59473	2.309000	0.77851	0.436000	0.28706	GAA		0.617	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			9	46	1	0	2.17888e-05	1	2.58902e-05	9	46				
OR4F4	26682	broad.mit.edu	37	15	102462372	102462372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:102462372C>T	ENST00000326183.3	-	1	926	c.891G>A	c.(889-891)tgG>tgA	p.W297*		NM_001004195.2	NP_001004195.2	Q96R69	OR4F4_HUMAN	olfactory receptor, family 4, subfamily F, member 4	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			AATGTGCATCCCATTTTCTCA	0.338																																						ENST00000326183.3																			0				ovary(1)	1						c.(889-891)tgG>tgA		olfactory receptor, family 4, subfamily F, member 4							194.0	278.0	250.0					15																	102462372		2159	4297	6456	SO:0001587	stop_gained	26682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102462372C>T		CCDS32343.1	15q26.3	2012-08-09			ENSG00000177693	ENSG00000177693		"""GPCR / Class A : Olfactory receptors"""	8301	protein-coding gene	gene with protein product							Standard	NM_001004195		Approved	OR4F18	uc002cdf.1	Q96R69		ENST00000326183.3:c.891G>A	15.37:g.102462372C>T	ENSP00000317482:p.Trp297*						p.W297*	NM_001004195.2	NP_001004195.2	Q96R69	OR4F4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	926	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		297					B2RNI5|Q6IFN9	Nonsense_Mutation	SNP	ENST00000326183.3	37	c.891G>A	CCDS32343.1	.	.	.	.	.	.	.	.	.	.	.	10.57	1.388274	0.25118	.	.	ENSG00000177693	ENST00000326183	.	.	.	2.1	2.1	0.27182	.	0.924044	0.08956	N	0.869441	.	.	.	.	.	.	0.36524	D	0.87035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7326	0.23390	0.0:0.7022:0.2978:0.0	.	.	.	.	X	297	.	.	W	-	3	0	OR4F4	100279895	0.002000	0.14202	0.340000	0.25575	0.300000	0.27592	-0.045000	0.12003	1.487000	0.48415	0.298000	0.19748	TGG		0.338	OR4F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417599.1	NM_001004195		24	457	0	0	0	1	0	24	457				
TIAM1	7074	broad.mit.edu	37	21	32595908	32595908	+	Splice_Site	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:32595908C>G	ENST00000286827.3	-	9	2281		c.e9-1		TIAM1_ENST00000541036.1_Splice_Site|TIAM1_ENST00000469412.1_Splice_Site	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1						apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AGACAAAGATCTATGGTAGTG	0.418																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.e9-1		T-cell lymphoma invasion and metastasis 1							59.0	62.0	61.0					21																	32595908		2203	4300	6503	SO:0001630	splice_region_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32595908C>G		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1810-1G>C	21.37:g.32595908C>G						TIAM1_ENST00000541036.1_Splice_Site|TIAM1_ENST00000469412.1_Splice_Site		NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			9	2281	-								B7ZLR6|F5GZ53|Q17RT7	Splice_Site	SNP	ENST00000286827.3	37		CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.418747	0.25552	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	.	.	.	4.77	2.97	0.34412	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7965	0.46464	0.0:0.8476:0.0:0.1524	.	.	.	.	.	-1	.	.	.	-	.	.	TIAM1	31517779	1.000000	0.71417	0.963000	0.40424	0.181000	0.23173	7.551000	0.82182	0.737000	0.32582	0.655000	0.94253	.		0.418	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	Intron	12	39	0	0	0	1	0	12	39				
PRUNE2	158471	broad.mit.edu	37	9	79325765	79325765	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:79325765C>A	ENST00000376718.3	-	8	1548	c.1425G>T	c.(1423-1425)ggG>ggT	p.G475G	PRUNE2_ENST00000428286.1_Silent_p.G116G	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	475					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCGCCACCGCCCCTTCAGGGA	0.597																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(346-348)ggG>ggT		prune homolog 2 (Drosophila)							46.0	42.0	43.0					9																	79325765		1568	3582	5150	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79325765C>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.1425G>T	9.37:g.79325765C>A						PRUNE2_ENST00000376718.3_Silent_p.G475G	p.G116G			Q8WUY3	PRUN2_HUMAN			8	1548	-			475					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.348G>T	CCDS47982.1																																																																																				0.597	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		8	27	1	0	5.18039e-06	1	6.40024e-06	8	27				
ALG13	79868	broad.mit.edu	37	X	111000960	111000960	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:111000960G>A	ENST00000394780.3	+	26	3130	c.3118G>A	c.(3118-3120)Gat>Aat	p.D1040N	ALG13_ENST00000251943.4_Missense_Mutation_p.D857N|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	1040					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						GAGGAGAGAAGATGGCATACA	0.433																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(3118-3120)Gat>Aat		ALG13, UDP-N-acetylglucosaminyltransferase subunit							134.0	105.0	114.0					X																	111000960		1568	3582	5150	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:111000960G>A	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.3118G>A	X.37:g.111000960G>A	ENSP00000378260:p.Asp1040Asn					ALG13_ENST00000251943.4_Missense_Mutation_p.D857N|ALG13_ENST00000470971.1_3'UTR	p.D1040N	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN			26	3130	+			1040					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.3118G>A	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.378798	0.24944	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.56611	1.39;0.45	5.12	2.41	0.29592	.	0.388277	0.26646	N	0.023224	T	0.44561	0.1299	L	0.53249	1.67	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.002	T	0.32052	-0.9921	10	0.33940	T	0.23	-4.4944	10.0328	0.42111	0.232:0.0:0.768:0.0	.	962;1040;857	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	N	857;1040;594	ENSP00000251943:D857N;ENSP00000378260:D1040N	ENSP00000251943:D857N	D	+	1	0	ALG13	110887616	1.000000	0.71417	0.312000	0.25196	0.196000	0.23810	4.182000	0.58310	0.143000	0.18926	-0.305000	0.09177	GAT		0.433	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		6	35	0	0	0	1	0	6	35				
SLITRK2	84631	broad.mit.edu	37	X	144904773	144904773	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:144904773A>T	ENST00000370490.1	+	1	5085	c.830A>T	c.(829-831)cAt>cTt	p.H277L	SLITRK2_ENST00000447897.2_Missense_Mutation_p.H277L|SLITRK2_ENST00000428560.2_Missense_Mutation_p.H277L|SLITRK2_ENST00000434188.2_Missense_Mutation_p.H277L|SLITRK2_ENST00000413937.2_Missense_Mutation_p.H277L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	277					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGCAGCCATGCTGACACC	0.557																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(829-831)cAt>cTt		SLIT and NTRK-like family, member 2							82.0	76.0	78.0					X																	144904773		2202	4300	6502	SO:0001583	missense	84631					integral to membrane		g.chrX:144904773A>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.830A>T	X.37:g.144904773A>T	ENSP00000359521:p.His277Leu					SLITRK2_ENST00000413937.2_Missense_Mutation_p.H277L|SLITRK2_ENST00000434188.2_Missense_Mutation_p.H277L|SLITRK2_ENST00000447897.2_Missense_Mutation_p.H277L|SLITRK2_ENST00000428560.2_Missense_Mutation_p.H277L	p.H277L			Q9H156	SLIK2_HUMAN			1	5085	+	Acute lymphoblastic leukemia(192;6.56e-05)		277					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.830A>T	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	A	4.289	0.052784	0.08291	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.67	4.52	0.55395	.	0.518121	0.20650	N	0.088225	T	0.21631	0.0521	N	0.22421	0.69	0.26146	N	0.980201	B	0.06786	0.001	B	0.10450	0.005	T	0.24048	-1.0171	10	0.07990	T	0.79	-9.1402	3.7967	0.08743	0.7098:0.0:0.0985:0.1916	.	277	Q9H156	SLIK2_HUMAN	L	277	ENSP00000334374:H277L;ENSP00000411681:H277L;ENSP00000359521:H277L;ENSP00000397015:H277L;ENSP00000407347:H277L;ENSP00000412010:H277L	ENSP00000334374:H277L	H	+	2	0	SLITRK2	144712465	0.942000	0.31987	0.981000	0.43875	0.909000	0.53808	4.123000	0.57917	1.891000	0.54761	0.486000	0.48141	CAT		0.557	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		15	74	0	0	0	1	0	15	74				
PCDH7	5099	broad.mit.edu	37	4	30725738	30725738	+	Silent	SNP	A	A	G	rs538085533		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:30725738A>G	ENST00000361762.2	+	1	3702	c.2694A>G	c.(2692-2694)gtA>gtG	p.V898V	PCDH7_ENST00000543491.1_Silent_p.V898V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	898					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TCTTAATTGTAGTGATGGCAA	0.408													A|||	1	0.000199681	0.0	0.0	5008	,	,		19296	0.0		0.0	False		,,,				2504	0.001					ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(2692-2694)gtA>gtG		protocadherin 7							114.0	111.0	112.0					4																	30725738		2203	4300	6503	SO:0001819	synonymous_variant	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30725738A>G	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2694A>G	4.37:g.30725738A>G						PCDH7_ENST00000543491.1_Silent_p.V898V	p.V898V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	3702	+			898					O60246|O60247|Q4W5C4	Silent	SNP	ENST00000361762.2	37	c.2694A>G	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	A	3.383	-0.125882	0.06795	.	.	ENSG00000169851	ENST00000511884	.	.	.	5.16	0.0279	0.14156	.	.	.	.	.	T	0.41811	0.1175	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22556	-1.0213	4	.	.	.	.	1.627	0.02725	0.2864:0.206:0.3645:0.1431	.	.	.	.	G	588	.	.	S	+	1	0	PCDH7	30334836	0.337000	0.24766	0.996000	0.52242	0.997000	0.91878	-0.308000	0.08156	-0.124000	0.11724	0.533000	0.62120	AGT		0.408	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		13	61	0	0	0	1	0	13	61				
MBOAT1	154141	broad.mit.edu	37	6	20109935	20109935	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:20109935T>G	ENST00000324607.7	-	12	1419	c.1255A>C	c.(1255-1257)Aag>Cag	p.K419Q	MBOAT1_ENST00000541730.1_Missense_Mutation_p.K270Q	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	419					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TACACAGCCTTGAGAGCTCTT	0.502																																						ENST00000541730.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20						c.(808-810)Aag>Cag		membrane bound O-acyltransferase domain containing 1							154.0	133.0	140.0					6																	20109935		2203	4300	6503	SO:0001583	missense	154141				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr6:20109935T>G	AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 1"""	611732	"""O-acyltransferase (membrane bound) domain containing 1"""	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.1255A>C	6.37:g.20109935T>G	ENSP00000324944:p.Lys419Gln					MBOAT1_ENST00000324607.7_Missense_Mutation_p.K419Q	p.K270Q			Q6ZNC8	MBOA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)		11	1403	-	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		419					A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	ENST00000324607.7	37	c.808A>C	CCDS34346.1	.	.	.	.	.	.	.	.	.	.	T	16.02	3.004915	0.54254	.	.	ENSG00000172197	ENST00000541730;ENST00000324607	T;T	0.73469	-0.75;-0.75	5.38	5.38	0.77491	.	0.042369	0.85682	D	0.000000	T	0.82024	0.4947	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	T	0.81402	-0.0949	10	0.33141	T	0.24	-11.0952	14.6643	0.68896	0.0:0.0:0.0:1.0	.	270;419	Q6ZNC8-2;Q6ZNC8	.;MBOA1_HUMAN	Q	270;419	ENSP00000441568:K270Q;ENSP00000324944:K419Q	ENSP00000324944:K419Q	K	-	1	0	MBOAT1	20217914	1.000000	0.71417	0.024000	0.17045	0.012000	0.07955	6.037000	0.70956	2.140000	0.66376	0.533000	0.62120	AAG		0.502	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1			17	73	0	0	0	1	0	17	73				
LPAL2	80350	broad.mit.edu	37	6	160913830	160913830	+	RNA	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:160913830T>A	ENST00000335388.5	-	0	490					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GAATGAATCCTCTAGGCTTGG	0.498																																						ENST00000335388.5																			0				large_intestine(1)|lung(4)	5															122.0	115.0	117.0					6																	160913830		2203	4300	6503			80350							g.chr6:160913830T>A	U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160913830T>A								NR_028092.1					OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	0	490	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)						E1P5B4	RNA	SNP	ENST00000335388.5	37																																																																																						0.498	LPAL2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000042950.1	NM_024492		15	105	0	0	0	1	0	15	105				
OR2M5	127059	broad.mit.edu	37	1	248308798	248308798	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:248308798G>C	ENST00000366476.1	+	1	349	c.349G>C	c.(349-351)Gtt>Ctt	p.V117L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TCTGTTGGCTGTTATGTCTTA	0.438																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(349-351)Gtt>Ctt		olfactory receptor, family 2, subfamily M, member 5							309.0	304.0	306.0					1																	248308798		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308798G>C		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.349G>C	1.37:g.248308798G>C	ENSP00000355432:p.Val117Leu						p.V117L	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	349	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		117						Missense_Mutation	SNP	ENST00000366476.1	37	c.349G>C	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	0	-2.720687	0.00092	.	.	ENSG00000162727	ENST00000366476	T	0.05139	3.49	3.28	-1.35	0.09114	GPCR, rhodopsin-like superfamily (1);	0.691072	0.11097	U	0.600117	T	0.04137	0.0115	L	0.42686	1.345	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.48281	-0.9049	10	0.02654	T	1	.	4.602	0.12357	0.3684:0.0:0.4842:0.1473	.	117	A3KFT3	OR2M5_HUMAN	L	117	ENSP00000355432:V117L	ENSP00000355432:V117L	V	+	1	0	OR2M5	246375421	0.000000	0.05858	0.006000	0.13384	0.107000	0.19398	0.264000	0.18497	-0.271000	0.09272	-0.386000	0.06593	GTT		0.438	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		21	498	0	0	0	1	0	21	498				
SLC38A4	55089	broad.mit.edu	37	12	47182395	47182395	+	Silent	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:47182395A>G	ENST00000447411.1	-	3	332	c.126T>C	c.(124-126)ttT>ttC	p.F42F	SLC38A4_ENST00000266579.4_Silent_p.F42F	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	42					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTTCATTAGCAAATTGACTGA	0.348																																						ENST00000447411.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21						c.(124-126)ttT>ttC		solute carrier family 38, member 4							137.0	131.0	133.0					12																	47182395		2203	4300	6503	SO:0001819	synonymous_variant	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47182395A>G	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.126T>C	12.37:g.47182395A>G						SLC38A4_ENST00000266579.4_Silent_p.F42F	p.F42F	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN			3	332	-	Lung SC(27;0.192)|Renal(347;0.236)		42					A8K553	Silent	SNP	ENST00000447411.1	37	c.126T>C	CCDS8750.1																																																																																				0.348	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			9	82	0	0	0	1	0	9	82				
CDC42BPG	55561	broad.mit.edu	37	11	64597448	64597448	+	Silent	SNP	G	G	A	rs376414221		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:64597448G>A	ENST00000342711.5	-	30	3461	c.3462C>T	c.(3460-3462)agC>agT	p.S1154S	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						AGAGACGCACGCTGGGGCCGC	0.662																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(3460-3462)agC>agT		CDC42 binding protein kinase gamma (DMPK-like)		G		0,4402		0,0,2201	29.0	33.0	31.0		3462	-2.8	1.0	11		31	1,8589		0,1,4294	no	coding-synonymous	CDC42BPG	NM_017525.2		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		1154/1552	64597448	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64597448G>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.3462C>T	11.37:g.64597448G>A							p.S1154S	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			30	3461	-			1154			CNH.			Silent	SNP	ENST00000342711.5	37	c.3462C>T	CCDS31601.1																																																																																				0.662	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		5	61	0	0	0	1	0	5	61				
CLEC4A	50856	broad.mit.edu	37	12	8278194	8278194	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:8278194C>T	ENST00000229332.5	+	2	367	c.120C>T	c.(118-120)acC>acT	p.T40T	CLEC4A_ENST00000360500.3_Intron|CLEC4A_ENST00000352620.3_Silent_p.T40T|CLEC4A_ENST00000345999.3_Intron	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	40					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		AAAGTAATACCGGATTCCCCA	0.403																																						ENST00000229332.5																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(118-120)acC>acT		C-type lectin domain family 4, member A							170.0	143.0	152.0					12																	8278194		2203	4300	6503	SO:0001819	synonymous_variant	50856				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:8278194C>T	AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"""C-type lectin domain containing"""	13257	protein-coding gene	gene with protein product		605306	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"""	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.120C>T	12.37:g.8278194C>T						CLEC4A_ENST00000352620.3_Silent_p.T40T|CLEC4A_ENST00000345999.3_Intron|CLEC4A_ENST00000360500.3_Intron	p.T40T	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN		Kidney(36;0.0915)	2	367	+			40					Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Silent	SNP	ENST00000229332.5	37	c.120C>T	CCDS8590.1																																																																																				0.403	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400257.1	NM_194450		31	42	0	0	0	1	0	31	42				
TECTB	6975	broad.mit.edu	37	10	114053533	114053533	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:114053533T>C	ENST00000369422.3	+	5	521	c.521T>C	c.(520-522)gTc>gCc	p.V174A		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	174	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GCTCCCTTTGTCCTGGAGGCA	0.433																																						ENST00000369422.3																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(520-522)gTc>gCc		tectorin beta							148.0	142.0	144.0					10																	114053533		2203	4300	6503	SO:0001583	missense	6975					anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr10:114053533T>C	AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.521T>C	10.37:g.114053533T>C	ENSP00000358430:p.Val174Ala						p.V174A	NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN		Epithelial(162;0.0143)|all cancers(201;0.0242)	5	521	+		Colorectal(252;0.198)	174			ZP.		Q5VW53	Missense_Mutation	SNP	ENST00000369422.3	37	c.521T>C	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.370333	0.61624	.	.	ENSG00000119913	ENST00000369422	D	0.81659	-1.52	5.97	4.84	0.62591	Zona pellucida sperm-binding protein (3);	0.173486	0.49916	D	0.000125	T	0.77968	0.4210	M	0.65975	2.015	0.52501	D	0.999955	B	0.28880	0.226	B	0.31751	0.135	T	0.71652	-0.4528	10	0.20519	T	0.43	.	12.2371	0.54522	0.0:0.0663:0.0:0.9337	.	174	Q96PL2	TECTB_HUMAN	A	174	ENSP00000358430:V174A	ENSP00000358430:V174A	V	+	2	0	TECTB	114043523	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.983000	0.56916	1.078000	0.41014	0.533000	0.62120	GTC		0.433	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		5	41	0	0	0	1	0	5	41				
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs201252723	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104				TPTE2P6_ENST00000440905.1_RNA																							TTGAAACAGCTGGTGTATTAA	0.373																																						ENST00000453498.1																			0																																																			374491							g.chr13:25168432T>C																													13.37:g.25168432T>C														0	1104	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.373	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	19	0	0	0	1	0	3	19				
GBP3	2635	broad.mit.edu	37	1	89474698	89474698	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:89474698C>T	ENST00000370481.4	-	10	1811	c.1591G>A	c.(1591-1593)Gag>Aag	p.E531K		NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	0	Sufficient for membrane association.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TCCATCTTCTCAGTCAATTGT	0.428																																						ENST00000370481.4																			0				breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26						c.(1591-1593)Gag>Aag		guanylate binding protein 3							211.0	176.0	188.0					1																	89474698		2203	4300	6503	SO:0001583	missense	2635					integral to membrane	GTP binding|GTPase activity	g.chr1:89474698C>T	BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.1591G>A	1.37:g.89474698C>T	ENSP00000359512:p.Glu531Lys						p.E531K	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN		all cancers(265;0.0103)|Epithelial(280;0.0293)	10	1811	-		Lung NSC(277;0.123)	531					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000370481.4	37	c.1591G>A	CCDS717.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052753	0.75960	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000445969	T;T	0.57273	0.41;0.41	3.66	3.66	0.41972	Guanylate-binding protein, C-terminal (3);	0.404895	0.25369	N	0.031165	T	0.53738	0.1815	M	0.77820	2.39	0.29155	N	0.878104	P;P	0.42337	0.735;0.776	P;P	0.52189	0.566;0.692	T	0.49679	-0.8914	10	0.46703	T	0.11	.	13.2512	0.60052	0.0:1.0:0.0:0.0	.	397;531	F6X827;Q9H0R5	.;GBP3_HUMAN	K	499;531;111	ENSP00000359512:E531K;ENSP00000415087:E111K	ENSP00000359512:E531K	E	-	1	0	GBP3	89247286	0.097000	0.21791	0.276000	0.24689	0.003000	0.03518	0.809000	0.27168	2.060000	0.61445	0.609000	0.83330	GAG		0.428	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284		5	64	0	0	0	1	0	5	64				
DBI	1622	broad.mit.edu	37	2	120125881	120125881	+	Splice_Site	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:120125881G>A	ENST00000355857.3	+	2	258	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	C2orf76_ENST00000498049.1_5'Flank|DBI_ENST00000542275.1_Splice_Site_p.E104K|DBI_ENST00000409094.1_Splice_Site_p.E60K|C2orf76_ENST00000409466.2_5'Flank|C2orf76_ENST00000409877.1_5'Flank|C2orf76_ENST00000334816.7_5'Flank|DBI_ENST00000535757.1_Splice_Site_p.E60K|DBI_ENST00000393103.2_Splice_Site_p.E44K|DBI_ENST00000535617.1_Splice_Site_p.E85K|DBI_ENST00000460901.1_3'UTR|C2orf76_ENST00000409523.1_5'Flank|DBI_ENST00000311521.4_Splice_Site_p.E60K	NM_001079862.1|NM_001178043.1	NP_001073331.1|NP_001171514.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	43	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				hair follicle development (GO:0001942)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|transport (GO:0006810)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear endoplasmic reticulum (GO:0097038)	benzodiazepine receptor binding (GO:0030156)|lipid binding (GO:0008289)|long-chain fatty acyl-CoA binding (GO:0036042)|protein dimerization activity (GO:0046983)			kidney(1)|lung(4)|skin(1)	6						CATAAATACAGGTATGCAGAG	0.527																																						ENST00000542275.1																			0				kidney(1)|lung(4)|skin(1)	6						c.e2+1		diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)							108.0	99.0	102.0					2																	120125881		2203	4300	6503	SO:0001630	splice_region_variant	1622				transport		benzodiazepine receptor binding|fatty-acyl-CoA binding	g.chr2:120125881G>A	L76366	CCDS2126.1, CCDS42740.1, CCDS42741.1, CCDS74568.1	2q12-q21	2010-10-20	2010-04-30		ENSG00000155368	ENSG00000155368			2690	protein-coding gene	gene with protein product	"""endozepine"""	125950	"""diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)"""			1440058	Standard	NM_001079863		Approved	ACBP, ACBD1	uc021vnj.1	P07108	OTTHUMG00000131403	ENST00000355857.3:c.127+1G>A	2.37:g.120125881G>A						DBI_ENST00000393103.2_Splice_Site_p.E44_splice|DBI_ENST00000535757.1_Splice_Site_p.E60_splice|DBI_ENST00000311521.4_Splice_Site_p.E60_splice|DBI_ENST00000409094.1_Splice_Site_p.E60_splice|DBI_ENST00000535617.1_Splice_Site_p.E85_splice|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000355857.3_Splice_Site_p.E43_splice	p.E104_splice	NM_001178017.1	NP_001171488.1	P07108	ACBP_HUMAN			2	394	+			43					B8ZWD2|B8ZWD6|B8ZWD7|P08869|Q4VWZ6|Q53SQ7|Q6IB48|Q9UCI8	Splice_Site	SNP	ENST00000355857.3	37	c.310_splice	CCDS42740.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118429	0.56505	.	.	ENSG00000155368	ENST00000355857;ENST00000535617;ENST00000535757;ENST00000409094;ENST00000311521;ENST00000542275;ENST00000393103	T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31	4.6	4.6	0.57074	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (4);	0.437819	0.25744	N	0.028588	T	0.14098	0.0341	N	0.25060	0.705	0.80722	D	1	B;P;B;B;B	0.34587	0.05;0.458;0.03;0.041;0.005	B;B;B;B;B	0.38056	0.058;0.264;0.033;0.117;0.022	T	0.12451	-1.0547	10	0.25751	T	0.34	-0.1549	15.3057	0.73990	0.0:0.0:1.0:0.0	.	53;85;44;60;43	B8ZWD1;B8ZWD7;P07108-3;B8ZWD2;P07108	.;.;.;.;ACBP_HUMAN	K	43;85;60;60;60;104;44	ENSP00000348116:E43K;ENSP00000442917:E85K;ENSP00000439012:E60K;ENSP00000386486:E60K;ENSP00000311117:E60K;ENSP00000440698:E104K;ENSP00000376815:E44K	ENSP00000311117:E60K	E	+	1	0	DBI	119842351	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	4.376000	0.59556	2.547000	0.85894	0.655000	0.94253	GAA		0.527	DBI-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330590.1	NM_020548	Missense_Mutation	5	79	0	0	0	1	0	5	79				
C9orf3	84909	broad.mit.edu	37	9	97522187	97522187	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:97522187G>T	ENST00000375315.2	+	1	122	c.122G>T	c.(121-123)gGg>gTg	p.G41V	C9orf3_ENST00000277198.2_Missense_Mutation_p.G41V|C9orf3_ENST00000297979.5_Missense_Mutation_p.G41V	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	41					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GTCATTGAGGGGACCATAGTG	0.443																																						ENST00000375315.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(121-123)gGg>gTg		chromosome 9 open reading frame 3							82.0	82.0	82.0					9																	97522187		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97522187G>T	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.122G>T	9.37:g.97522187G>T	ENSP00000364464:p.Gly41Val					C9orf3_ENST00000277198.2_Missense_Mutation_p.G41V|C9orf3_ENST00000297979.5_Missense_Mutation_p.G41V	p.G41V	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	1	122	+			41					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.122G>T	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460350	0.63401	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315	T;T;T	0.12569	2.67;2.67;2.67	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;0.999	T	0.24368	-1.0162	10	0.87932	D	0	-16.216	18.1486	0.89667	0.0:0.0:1.0:0.0	.	41;41;41;41	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	V	41	ENSP00000277198:G41V;ENSP00000297979:G41V;ENSP00000364464:G41V	ENSP00000277198:G41V	G	+	2	0	C9orf3	96562008	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.995000	0.93534	2.589000	0.87451	0.563000	0.77884	GGG		0.443	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		15	72	1	0	2.61681e-11	1	3.79603e-11	15	72				
KATNAL1	84056	broad.mit.edu	37	13	30854276	30854276	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:30854276C>A	ENST00000380615.3	-	3	414	c.247G>T	c.(247-249)Gat>Tat	p.D83Y	RNU6-64P_ENST00000517119.1_RNA|KATNAL1_ENST00000380617.3_Missense_Mutation_p.D83Y	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1											autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		ACAGGGAAATCTGGAGGCTTG	0.373																																						ENST00000380615.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19						c.(247-249)Gat>Tat		katanin p60 subunit A-like 1							70.0	75.0	73.0					13																	30854276		2203	4300	6503	SO:0001583	missense	84056					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr13:30854276C>A	AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"""ATPases / AAA-type"""	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.247G>T	13.37:g.30854276C>A	ENSP00000369989:p.Asp83Tyr					KATNAL1_ENST00000380617.3_Missense_Mutation_p.D83Y	p.D83Y	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)	3	414	-		Lung SC(185;0.0257)	83						Missense_Mutation	SNP	ENST00000380615.3	37	c.247G>T	CCDS31956.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028184	0.54790	.	.	ENSG00000102781	ENST00000380615;ENST00000380617;ENST00000414289;ENST00000441394	D;D	0.94280	-3.39;-3.39	5.5	5.5	0.81552	.	0.045126	0.85682	D	0.000000	D	0.90937	0.7151	L	0.40543	1.245	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	D	0.86558	0.1839	10	0.59425	D	0.04	2.286	19.4012	0.94630	0.0:1.0:0.0:0.0	.	83	Q9BW62	KATL1_HUMAN	Y	83	ENSP00000369989:D83Y;ENSP00000369991:D83Y	ENSP00000369989:D83Y	D	-	1	0	KATNAL1	29752276	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.390000	0.79816	2.591000	0.87537	0.462000	0.41574	GAT		0.373	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044346.2	NM_032116		7	20	1	0	0.00198382	1	0.00216905	7	20				
ARHGEF11	9826	broad.mit.edu	37	1	156933337	156933337	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:156933337T>C	ENST00000361409.2	-	11	1635	c.893A>G	c.(892-894)tAt>tGt	p.Y298C	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.Y338C	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	298					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACCCGGGTCATAGTCTTCCTC	0.428																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(1012-1014)tAt>tGt		Rho guanine nucleotide exchange factor (GEF) 11							96.0	109.0	105.0					1																	156933337		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156933337T>C	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.893A>G	1.37:g.156933337T>C	ENSP00000354644:p.Tyr298Cys					ARHGEF11_ENST00000361409.2_Missense_Mutation_p.Y298C	p.Y338C	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			12	2052	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		298			RGSL.		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.1013A>G	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.991928	0.35131	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	T;T	0.67523	-0.26;-0.27	5.46	4.33	0.51752	.	0.000000	0.48286	D	0.000198	T	0.32823	0.0842	L	0.29908	0.895	0.80722	D	1	P;P	0.37548	0.464;0.599	B;B	0.31495	0.062;0.131	T	0.23762	-1.0179	10	0.41790	T	0.15	-9.8409	9.2474	0.37534	0.0:0.148:0.0:0.852	.	298;338	O15085;O15085-2	ARHGB_HUMAN;.	C	338;298	ENSP00000357177:Y338C;ENSP00000354644:Y298C	ENSP00000354644:Y298C	Y	-	2	0	ARHGEF11	155199961	0.998000	0.40836	1.000000	0.80357	0.963000	0.63663	0.795000	0.26972	0.905000	0.36596	-0.263000	0.10527	TAT		0.428	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		9	83	0	0	0	1	0	9	83				
WDR72	256764	broad.mit.edu	37	15	54006650	54006650	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:54006650G>A	ENST00000396328.1	-	6	811	c.572C>T	c.(571-573)tCa>tTa	p.S191L	WDR72_ENST00000360509.5_Missense_Mutation_p.S191L|WDR72_ENST00000559418.1_Missense_Mutation_p.S191L|WDR72_ENST00000557913.1_Missense_Mutation_p.S190L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	191										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTTGATAGATGAGGAAAGATC	0.338																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(571-573)tCa>tTa		WD repeat domain 72							96.0	94.0	95.0					15																	54006650		2194	4293	6487	SO:0001583	missense	256764							g.chr15:54006650G>A	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.572C>T	15.37:g.54006650G>A	ENSP00000379619:p.Ser191Leu					WDR72_ENST00000557913.1_Missense_Mutation_p.S190L|WDR72_ENST00000559418.1_Missense_Mutation_p.S191L|WDR72_ENST00000360509.5_Missense_Mutation_p.S191L	p.S191L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	6	811	-			191					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.572C>T	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790685	0.70452	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.01505	4.82;4.82	5.87	4.96	0.65561	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000008	T	0.09555	0.0235	M	0.69823	2.125	0.41542	D	0.988524	D	0.89917	1.0	D	0.83275	0.996	T	0.01065	-1.1463	10	0.72032	D	0.01	.	14.0779	0.64903	0.0717:0.0:0.9283:0.0	.	191	Q3MJ13	WDR72_HUMAN	L	191	ENSP00000379619:S191L;ENSP00000353699:S191L	ENSP00000353699:S191L	S	-	2	0	WDR72	51793942	1.000000	0.71417	0.995000	0.50966	0.893000	0.52053	7.549000	0.82163	1.502000	0.48669	-0.136000	0.14681	TCA		0.338	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		6	44	0	0	0	1	0	6	44				
CD1A	909	broad.mit.edu	37	1	158224881	158224881	+	Missense_Mutation	SNP	G	G	C	rs3087217		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:158224881G>C	ENST00000289429.5	+	2	599	c.66G>C	c.(64-66)aaG>aaC	p.K22N		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	22			K -> N (in dbSNP:rs3087217).		antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CAGGGCTCAAGGAGCCTCTCT	0.478																																						ENST00000289429.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(64-66)aaG>aaC		CD1a molecule	Antithymocyte globulin(DB00098)						120.0	104.0	109.0					1																	158224881		2203	4300	6503	SO:0001583	missense	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158224881G>C	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.66G>C	1.37:g.158224881G>C	ENSP00000289429:p.Lys22Asn						p.K22N	NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN			2	599	+	all_hematologic(112;0.0378)		22		K -> N (in dbSNP:rs3087217).			D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	c.66G>C	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276452	0.23307	.	.	ENSG00000158477	ENST00000289429	T	0.01279	5.06	4.54	1.38	0.22167	.	1.107710	0.07161	N	0.850766	T	0.00468	0.0015	N	0.25647	0.755	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.47156	-0.9139	10	0.87932	D	0	-1.8083	5.0643	0.14574	0.1006:0.0:0.5343:0.3651	.	22	P06126	CD1A_HUMAN	N	22	ENSP00000289429:K22N	ENSP00000289429:K22N	K	+	3	2	CD1A	156491505	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.212000	0.17497	0.108000	0.17862	0.585000	0.79938	AAG		0.478	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		12	88	0	0	0	1	0	12	88				
CANT1	124583	broad.mit.edu	37	17	76993495	76993495	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:76993495G>A	ENST00000302345.2	-	2	704	c.210C>T	c.(208-210)ccC>ccT	p.P70P	CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000392446.5_Silent_p.P70P|CANT1_ENST00000591773.1_Silent_p.P70P	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	70					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CATTGTGGGTGGGGGGCCTGC	0.672			T	ETV4	prostate																																	ENST00000302345.2				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate	CANT1/ETV4(3)	0				cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16						c.(208-210)ccC>ccT		calcium activated nucleotidase 1							24.0	32.0	29.0					17																	76993495		2152	4223	6375	SO:0001819	synonymous_variant	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76993495G>A	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.210C>T	17.37:g.76993495G>A						CANT1_ENST00000591773.1_Silent_p.P70P|CANT1_ENST00000392446.5_Silent_p.P70P	p.P70P	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		2	704	-			70					B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Silent	SNP	ENST00000302345.2	37	c.210C>T	CCDS11760.1																																																																																				0.672	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		29	88	0	0	0	1	0	29	88				
ZNF2	7549	broad.mit.edu	37	2	95843345	95843345	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:95843345G>T	ENST00000340539.5	+	3	613	c.151G>T	c.(151-153)Gtg>Ttg	p.V51L	ZNF2_ENST00000425369.1_Missense_Mutation_p.V9L|ZNF2_ENST00000398107.2_Missense_Mutation_p.V9L|ZNF2_ENST00000295210.6_Missense_Mutation_p.V51L|ZNF2_ENST00000453539.2_Missense_Mutation_p.V51L	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	51	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		TAACAGCATTGTGTCATTGGG	0.517																																						ENST00000398107.2																			0				endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12						c.(25-27)Gtg>Ttg		zinc finger protein 2							132.0	133.0	132.0					2																	95843345		2053	4200	6253	SO:0001583	missense	7549				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95843345G>T	X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"""Zinc fingers, C2H2-type"", ""-"""	12991	protein-coding gene	gene with protein product		194500	"""zinc finger protein 2 (A1-5)"""			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.151G>T	2.37:g.95843345G>T	ENSP00000345392:p.Val51Leu					ZNF2_ENST00000295210.6_Missense_Mutation_p.V51L|ZNF2_ENST00000453539.2_Missense_Mutation_p.V51L|ZNF2_ENST00000340539.5_Missense_Mutation_p.V51L|ZNF2_ENST00000425369.1_Missense_Mutation_p.V9L	p.V9L	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN		READ - Rectum adenocarcinoma(193;0.0222)	2	547	+		Ovarian(717;0.00768)	51	MAAVSPTTRCQ -> RGAVFPGPEHSVPE (in Ref. 3; CAB52138).				A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Missense_Mutation	SNP	ENST00000340539.5	37	c.25G>T	CCDS42712.1	.	.	.	.	.	.	.	.	.	.	G	8.542	0.873498	0.17322	.	.	ENSG00000163067	ENST00000398107;ENST00000340539;ENST00000425369;ENST00000295210;ENST00000453539	T;T;T;T;T	0.06449	5.6;4.44;3.3;4.44;4.44	5.35	2.38	0.29361	Krueppel-associated box (4);	0.500761	0.16937	N	0.193438	T	0.03739	0.0106	N	0.25380	0.74	0.09310	N	1	B;B;B	0.15719	0.003;0.014;0.013	B;B;B	0.20955	0.013;0.018;0.032	T	0.45745	-0.9240	10	0.10636	T	0.68	-6.8943	3.8944	0.09133	0.2958:0.18:0.5242:0.0	.	51;9;51	B4DIR4;A8MWV7;Q9BSG1	.;.;ZNF2_HUMAN	L	9;51;9;51;51	ENSP00000381178:V9L;ENSP00000345392:V51L;ENSP00000406017:V9L;ENSP00000295210:V51L;ENSP00000411051:V51L	ENSP00000295210:V51L	V	+	1	0	ZNF2	95207072	0.049000	0.20398	0.019000	0.16419	0.000000	0.00434	0.584000	0.23864	0.822000	0.34565	-0.192000	0.12808	GTG		0.517	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338595.2	NM_021088		21	99	1	0	1.50039e-11	1	2.18435e-11	21	99				
TCF20	6942	broad.mit.edu	37	22	42607617	42607617	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr22:42607617G>A	ENST00000359486.3	-	1	3831	c.3695C>T	c.(3694-3696)cCt>cTt	p.P1232L	TCF20_ENST00000335626.4_Missense_Mutation_p.P1232L|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AACACTACCAGGTTTGGATGA	0.498																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(3694-3696)cCt>cTt		transcription factor 20 (AR1)							104.0	96.0	99.0					22																	42607617		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42607617G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3695C>T	22.37:g.42607617G>A	ENSP00000352463:p.Pro1232Leu					TCF20_ENST00000335626.4_Missense_Mutation_p.P1232L	p.P1232L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	3831	-			1232					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.3695C>T	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004925	0.54254	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.58940	0.3;0.3	5.52	5.52	0.82312	.	0.080756	0.52532	D	0.000062	T	0.60715	0.2290	N	0.24115	0.695	0.80722	D	1	D;D	0.56746	0.977;0.961	P;P	0.55923	0.787;0.617	T	0.61322	-0.7086	10	0.49607	T	0.09	-8.6784	19.6361	0.95733	0.0:0.0:1.0:0.0	.	1232;1232	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	L	1232	ENSP00000352463:P1232L;ENSP00000335561:P1232L	ENSP00000335561:P1232L	P	-	2	0	TCF20	40937561	1.000000	0.71417	0.960000	0.40013	0.612000	0.37316	5.209000	0.65208	2.878000	0.98634	0.650000	0.86243	CCT		0.498	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		9	79	0	0	0	1	0	9	79				
PTENP1	11191	broad.mit.edu	37	9	33676787	33676787	+	RNA	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:33676787C>T	ENST00000532280.1	-	0	710					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		GGCTCTGGACCGCAGCCGGGT	0.662																																						ENST00000532280.1																			0																																																			11191							g.chr9:33676787C>T	AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33676787C>T								NR_023917.1						0	710	-									RNA	SNP	ENST00000532280.1	37																																																																																						0.662	PTENP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395145.1	NR_023917		7	12	0	0	0	1	0	7	12				
GRIN3A	116443	broad.mit.edu	37	9	104432892	104432892	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:104432892C>T	ENST00000361820.3	-	3	2402	c.1802G>A	c.(1801-1803)gGg>gAg	p.G601E		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	601					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CTTTCCATCCCCTACAATATA	0.463																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(1801-1803)gGg>gAg		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						99.0	83.0	89.0					9																	104432892		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104432892C>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1802G>A	9.37:g.104432892C>T	ENSP00000355155:p.Gly601Glu						p.G601E	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			3	2402	-		Acute lymphoblastic leukemia(62;0.0568)	601					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.1802G>A	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430764	0.83776	.	.	ENSG00000198785	ENST00000361820	T	0.09723	2.95	5.72	5.72	0.89469	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.22044	0.0531	L	0.33339	1.005	0.80722	D	1	D	0.61080	0.989	D	0.65010	0.931	T	0.02009	-1.1230	10	0.16420	T	0.52	.	20.3236	0.98685	0.0:1.0:0.0:0.0	.	601	Q8TCU5	NMD3A_HUMAN	E	601	ENSP00000355155:G601E	ENSP00000355155:G601E	G	-	2	0	GRIN3A	103472713	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.047000	0.71038	2.876000	0.98609	0.644000	0.83932	GGG		0.463	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			7	58	0	0	0	1	0	7	58				
ITGB3	3690	broad.mit.edu	37	17	45361915	45361915	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:45361915C>T	ENST00000559488.1	+	4	484	c.468C>T	c.(466-468)agC>agT	p.S156S	ITGB3_ENST00000435993.2_Silent_p.S109S|ITGB3_ENST00000571680.1_Silent_p.S156S|ITGB3_ENST00000560629.1_Missense_Mutation_p.H145Y	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	156	VWFA.				activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	ATCTGTGGAGCATCCAGAACC	0.527																																						ENST00000560629.1																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(433-435)Cat>Tat		integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	Abciximab(DB00054)|Tirofiban(DB00775)						113.0	104.0	107.0					17																	45361915		2203	4300	6503	SO:0001819	synonymous_variant	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45361915C>T		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.468C>T	17.37:g.45361915C>T						ITGB3_ENST00000559488.1_Silent_p.S156S|ITGB3_ENST00000571680.1_Silent_p.S156S|ITGB3_ENST00000435993.2_Silent_p.S109S	p.H145Y			P05106	ITB3_HUMAN			4	433	+			0		D -> N (in GT).|D -> Y (in GT; type B).	VWFA.		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	c.433C>T	CCDS11511.1																																																																																				0.527	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		13	108	0	0	0	1	0	13	108				
CASQ1	844	broad.mit.edu	37	1	160162614	160162614	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:160162614A>T	ENST00000368078.3	+	2	498	c.302A>T	c.(301-303)gAc>gTc	p.D101V	CASQ1_ENST00000368079.3_Missense_Mutation_p.D95V			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	101					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTCCTAGAAGACAAGGGTGTT	0.493											OREG0013927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368079.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21						c.(283-285)gAc>gTc		calsequestrin 1 (fast-twitch, skeletal muscle)							124.0	131.0	129.0					1																	160162614		2203	4300	6503	SO:0001583	missense	844					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	g.chr1:160162614A>T	S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.302A>T	1.37:g.160162614A>T	ENSP00000357057:p.Asp101Val		OREG0013927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1806	CASQ1_ENST00000368078.3_Missense_Mutation_p.D101V	p.D95V	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	559	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		101					B1AKZ2|B2R863|Q8TBW7	Missense_Mutation	SNP	ENST00000368078.3	37	c.284A>T	CCDS1198.2	.	.	.	.	.	.	.	.	.	.	A	19.67	3.870522	0.72065	.	.	ENSG00000143318	ENST00000368079;ENST00000368078	T;T	0.76186	-1.0;-1.0	4.54	4.54	0.55810	Thioredoxin-like fold (2);	0.051742	0.85682	D	0.000000	T	0.80149	0.4570	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	T	0.82370	-0.0491	10	0.56958	D	0.05	.	13.0432	0.58913	1.0:0.0:0.0:0.0	.	101	P31415	CASQ1_HUMAN	V	95;101	ENSP00000357058:D95V;ENSP00000357057:D101V	ENSP00000357057:D101V	D	+	2	0	CASQ1	158429238	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.693000	0.54735	1.911000	0.55334	0.369000	0.22263	GAC		0.493	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231		14	169	0	0	0	1	0	14	169				
WDR59	79726	broad.mit.edu	37	16	74972149	74972149	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:74972149C>A	ENST00000262144.6	-	8	680	c.550G>T	c.(550-552)Gtg>Ttg	p.V184L		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	184										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AGATATTCCACTGCTGTACTG	0.463																																						ENST00000262144.6																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(550-552)Gtg>Ttg		WD repeat domain 59							153.0	141.0	145.0					16																	74972149		2198	4300	6498	SO:0001583	missense	79726							g.chr16:74972149C>A	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.550G>T	16.37:g.74972149C>A	ENSP00000262144:p.Val184Leu						p.V184L	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			8	680	-			184					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.550G>T	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.784203	0.70222	.	.	ENSG00000103091	ENST00000262144;ENST00000536050	T	0.69806	-0.43	5.6	3.64	0.41730	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.184196	0.46758	D	0.000274	T	0.48314	0.1493	L	0.28556	0.865	0.58432	D	0.999995	B;B	0.21309	0.054;0.008	B;B	0.19666	0.025;0.026	T	0.36480	-0.9746	10	0.06099	T	0.92	-6.1585	11.2518	0.49031	0.0:0.8505:0.0:0.1495	.	184;184	Q6PJI9-2;Q6PJI9	.;WDR59_HUMAN	L	184;163	ENSP00000262144:V184L	ENSP00000262144:V184L	V	-	1	0	WDR59	73529650	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.657000	0.61490	1.345000	0.45676	0.655000	0.94253	GTG		0.463	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		20	88	1	0	7.41877e-09	1	1.01428e-08	20	88				
ST7	7982	broad.mit.edu	37	7	116593615	116593615	+	Silent	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:116593615C>G	ENST00000393446.2	+	1	324	c.21C>G	c.(19-21)ggC>ggG	p.G7G	ST7_ENST00000393451.3_Silent_p.G7G|ST7-AS1_ENST00000456775.1_RNA|ST7-OT4_ENST00000397750.3_5'Flank|ST7_ENST00000393449.1_Silent_p.G7G|ST7-OT4_ENST00000397751.1_5'Flank|ST7_ENST00000323984.3_Silent_p.G7G|ST7_ENST00000265437.5_Silent_p.G7G			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7	0					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CGGCCACGGGCTTTCTGGAGC	0.612																																						ENST00000265437.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21						c.(19-21)ggC>ggG		suppression of tumorigenicity 7							216.0	211.0	213.0					7																	116593615		2203	4300	6503	SO:0001819	synonymous_variant	7982					integral to membrane	binding	g.chr7:116593615C>G	AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.21C>G	7.37:g.116593615C>G						ST7_ENST00000393451.3_Silent_p.G7G|ST7_ENST00000323984.3_Silent_p.G7G|ST7-AS1_ENST00000456775.1_RNA|ST7_ENST00000393449.1_Silent_p.G7G|ST7_ENST00000393446.2_Silent_p.G7G	p.G7G	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	1	235	+	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		7					A8K137|B4DRQ2	Silent	SNP	ENST00000393446.2	37	c.21C>G																																																																																					0.612	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1	NM_021908		6	58	0	0	0	1	0	6	58				
SP100	6672	broad.mit.edu	37	2	231280994	231280994	+	De_novo_Start_InFrame	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:231280994A>T	ENST00000264052.5	+	0	338				SP100_ENST00000409112.1_De_novo_Start_InFrame|SP100_ENST00000341950.4_De_novo_Start_InFrame|SP100_ENST00000409341.1_De_novo_Start_InFrame|SP100_ENST00000340126.4_De_novo_Start_InFrame|SP100_ENST00000409824.1_De_novo_Start_InFrame|SP100_ENST00000427101.2_De_novo_Start_InFrame|SP100_ENST00000409897.1_5'Flank	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen						cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGCCCACGCAGGGCCTAGGG	0.627																																						ENST00000264052.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25								SP100 nuclear antigen							57.0	51.0	53.0					2																	231280994		2203	4300	6503			6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231280994A>T	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203		2.37:g.231280994A>T						SP100_ENST00000340126.4_De_novo_Start_InFrame|SP100_ENST00000409824.1_De_novo_Start_InFrame|SP100_ENST00000409112.1_De_novo_Start_InFrame|SP100_ENST00000427101.2_De_novo_Start_InFrame|SP100_ENST00000341950.4_De_novo_Start_InFrame|SP100_ENST00000409341.1_De_novo_Start_InFrame		NM_003113.3	NP_003104.2	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	0	338	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)						B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Translation_Start_Site	SNP	ENST00000264052.5	37		CCDS2477.1																																																																																				0.627	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		8	23	0	0	0	1	0	8	23				
DNAH2	146754	broad.mit.edu	37	17	7702036	7702036	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:7702036G>T	ENST00000572933.1	+	55	10019	c.8559G>T	c.(8557-8559)gaG>gaT	p.E2853D	DNAH2_ENST00000389173.2_Splice_Site_p.E2853D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2853	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AATTTGAAGAGGTAGGATTCC	0.532																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.e55+1		dynein, axonemal, heavy chain 2							104.0	100.0	102.0					17																	7702036		2203	4300	6503	SO:0001630	splice_region_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7702036G>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8559+1G>T	17.37:g.7702036G>T						DNAH2_ENST00000389173.2_Splice_Site_p.E2853_splice	p.E2853_splice			Q9P225	DYH2_HUMAN			55	10019	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2853			AAA 4 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Splice_Site	SNP	ENST00000572933.1	37	c.8559_splice	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331508	0.60853	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.41758	0.99	5.66	4.69	0.59074	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.40272	0.1110	L	0.45228	1.405	0.80722	D	1	B	0.20887	0.049	B	0.32533	0.147	T	0.23332	-1.0191	10	0.37606	T	0.19	.	13.545	0.61697	0.0763:0.0:0.9237:0.0	.	2853	Q9P225	DYH2_HUMAN	D	2853	ENSP00000373825:E2853D	ENSP00000353818:E2853D	E	+	3	2	DNAH2	7642761	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.883000	0.75595	1.405000	0.46838	0.555000	0.69702	GAG		0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	Missense_Mutation	8	70	1	0	0.000274275	1	0.000311256	8	70				
HIST1H3B	8358	broad.mit.edu	37	6	26032207	26032207	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:26032207T>C	ENST00000244661.2	-	1	81	c.82A>G	c.(82-84)Aag>Gag	p.K28E		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	28					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						GGCGCGCTCTTGCGAGCAGCC	0.612																																						ENST00000244661.2																			0				breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						c.(82-84)Aag>Gag		histone cluster 1, H3b							67.0	82.0	77.0					6																	26032207		2161	4216	6377	SO:0001583	missense	8358				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26032207T>C	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.82A>G	6.37:g.26032207T>C	ENSP00000244661:p.Lys28Glu						p.K28E	NM_003537.3	NP_003528.1	P68431	H31_HUMAN			1	81	-			28					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000244661.2	37	c.82A>G	CCDS4573.1	.	.	.	.	.	.	.	.	.	.	t	11.56	1.676000	0.29783	.	.	ENSG00000124693	ENST00000244661	T	0.47528	0.84	5.19	5.19	0.71726	.	.	.	.	.	T	0.54224	0.1845	.	.	.	0.39610	D	0.969873	.	.	.	.	.	.	T	0.61337	-0.7083	6	0.72032	D	0.01	.	14.5202	0.67844	0.0:0.0:0.0:1.0	.	.	.	.	E	28	ENSP00000244661:K28E	ENSP00000244661:K28E	K	-	1	0	HIST1H3B	26140186	1.000000	0.71417	0.999000	0.59377	0.013000	0.08279	7.850000	0.86915	2.083000	0.62718	0.459000	0.35465	AAG		0.612	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		30	172	0	0	0	1	0	30	172				
TAAR8	83551	broad.mit.edu	37	6	132874321	132874321	+	Missense_Mutation	SNP	G	G	A	rs201581058		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:132874321G>A	ENST00000275200.1	+	1	490	c.490G>A	c.(490-492)Ggt>Agt	p.G164S		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	164					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CACGTACAGCGGTGCTGTGTT	0.493													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16739	0.0		0.0	False		,,,				2504	0.0					ENST00000275200.1																			0				endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(490-492)Ggt>Agt		trace amine associated receptor 8							315.0	300.0	305.0					6																	132874321		2203	4300	6503	SO:0001583	missense	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874321G>A	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.490G>A	6.37:g.132874321G>A	ENSP00000275200:p.Gly164Ser						p.G164S	NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	490	+	Breast(56;0.112)		164					Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	c.490G>A	CCDS5154.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	2.826	-0.243715	0.05906	.	.	ENSG00000146385	ENST00000275200	T	0.71222	-0.55	4.72	-2.42	0.06542	GPCR, rhodopsin-like superfamily (1);	0.543542	0.16723	N	0.202190	T	0.21718	0.0523	N	0.11364	0.135	0.09310	N	1	B	0.17667	0.023	B	0.16289	0.015	T	0.19418	-1.0306	10	0.42905	T	0.14	-3.6702	4.2824	0.10839	0.3404:0.0:0.2426:0.417	.	164	Q969N4	TAAR8_HUMAN	S	164	ENSP00000275200:G164S	ENSP00000275200:G164S	G	+	1	0	TAAR8	132916014	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.016000	0.03633	-0.621000	0.05633	-0.743000	0.03520	GGT		0.493	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		32	227	0	0	0	1	0	32	227				
COL26A1	136227	broad.mit.edu	37	7	101063362	101063362	+	RNA	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:101063362C>A	ENST00000397927.3	+	0	476				COL26A1_ENST00000313669.7_RNA|COL26A1_ENST00000528707.1_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											TGGCCGGGGCCCTGCGCCAAC	0.647																																						ENST00000313669.7																			0													collagen, type XXVI, alpha 1							30.0	40.0	37.0					7																	101063362		2015	4165	6180			136227							g.chr7:101063362C>A	AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101063362C>A						COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA		NM_133457.2	NP_597714.2					0	455	+								Q32M90	RNA	SNP	ENST00000397927.3	37			.	.	.	.	.	.	.	.	.	.	C	19.85	3.903564	0.72754	.	.	ENSG00000160963	ENST00000313669	T	0.41400	1.0	4.95	4.95	0.65309	EMI domain (2);	0.000000	0.36893	U	0.002346	T	0.57257	0.2041	L	0.48642	1.525	0.26672	N	0.971708	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	T	0.51803	-0.8659	10	0.45353	T	0.12	.	15.7219	0.77718	0.0:1.0:0.0:0.0	.	88;88	Q96A83;C9JPW4	EMID2_HUMAN;.	H	88	ENSP00000318234:P88H	ENSP00000318234:P88H	P	+	2	0	EMID2	100850082	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.229000	0.65316	2.310000	0.77875	0.558000	0.71614	CCC		0.647	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457		12	41	1	0	0.0202918	1	0.0212106	12	41				
FGF14	2259	broad.mit.edu	37	13	103053968	103053968	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:103053968T>C	ENST00000376131.4	-	1	156	c.61A>G	c.(61-63)Aag>Gag	p.K21E	RP11-811P12.3_ENST00000418923.2_RNA	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	0					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGAGATCCTTGTGGTTGCAT	0.403																																						ENST00000376131.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29						c.(61-63)Aag>Gag		fibroblast growth factor 14							71.0	68.0	69.0					13																	103053968		2203	4300	6503	SO:0001583	missense	2259				cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	g.chr13:103053968T>C		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376131.4:c.61A>G	13.37:g.103053968T>C	ENSP00000365301:p.Lys21Glu					RP11-811P12.3_ENST00000418923.2_RNA	p.K21E	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN			1	156	-	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		0					Q86YN7|Q96QX6	Missense_Mutation	SNP	ENST00000376131.4	37	c.61A>G	CCDS9500.1	.	.	.	.	.	.	.	.	.	.	T	12.85	2.062105	0.36373	.	.	ENSG00000102466	ENST00000376131	T	0.80033	-1.33	4.73	4.73	0.59995	.	0.677027	0.13987	N	0.349119	T	0.70988	0.3287	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.63677	-0.6583	8	.	.	.	.	14.3812	0.66911	0.0:0.0:0.0:1.0	.	21	Q92915-2	.	E	21	ENSP00000365301:K21E	.	K	-	1	0	FGF14	101851969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.632000	0.61311	1.984000	0.57885	0.533000	0.62120	AAG		0.403	FGF14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045680.5			14	43	0	0	0	1	0	14	43				
TDRD6	221400	broad.mit.edu	37	6	46660576	46660576	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:46660576G>A	ENST00000316081.6	+	1	4711	c.4711G>A	c.(4711-4713)Gga>Aga	p.G1571R	TDRD6_ENST00000544460.1_Missense_Mutation_p.G1571R	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1571	Tudor 7. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCCTTATATTGGAGATCCTTG	0.383																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4711-4713)Gga>Aga		tudor domain containing 6							133.0	129.0	131.0					6																	46660576		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660576G>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4711G>A	6.37:g.46660576G>A	ENSP00000346065:p.Gly1571Arg					TDRD6_ENST00000316081.6_Missense_Mutation_p.G1571R	p.G1571R	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4965	+			1571			Tudor 7.		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.4711G>A	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356705	0.82243	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.20069	2.1;2.1	5.87	5.0	0.66597	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.212389	0.41097	D	0.000942	T	0.39963	0.1098	M	0.88181	2.935	0.58432	D	0.999997	P;P	0.49961	0.914;0.93	P;P	0.58391	0.75;0.838	T	0.52616	-0.8552	10	0.87932	D	0	-17.5555	15.291	0.73865	0.0673:0.0:0.9327:0.0	.	1571;1571	F5H5M3;O60522	.;TDRD6_HUMAN	R	1571	ENSP00000443299:G1571R;ENSP00000346065:G1571R	ENSP00000346065:G1571R	G	+	1	0	TDRD6	46768535	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.265000	0.78442	1.487000	0.48415	0.655000	0.94253	GGA		0.383	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		17	123	0	0	0	1	0	17	123				
FSCB	84075	broad.mit.edu	37	14	44974743	44974743	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:44974743G>T	ENST00000340446.4	-	1	1739	c.1448C>A	c.(1447-1449)cCt>cAt	p.P483H	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	483	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTCATCTGCAGGAGGCTCCGT	0.502																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(1447-1449)cCt>cAt		fibrous sheath CABYR binding protein							28.0	28.0	28.0					14																	44974743		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44974743G>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1448C>A	14.37:g.44974743G>T	ENSP00000344579:p.Pro483His						p.P483H	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1739	-			483			Ala-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.1448C>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589579	0.46214	.	.	ENSG00000189139	ENST00000340446	T	0.13089	2.62	4.62	2.78	0.32641	.	.	.	.	.	T	0.28433	0.0703	L	0.54323	1.7	0.09310	N	1	D	0.76494	0.999	D	0.66847	0.947	T	0.04565	-1.0942	9	0.87932	D	0	-0.692	9.2341	0.37455	0.1846:0.0:0.8154:0.0	.	483	Q5H9T9	FSCB_HUMAN	H	483	ENSP00000344579:P483H	ENSP00000344579:P483H	P	-	2	0	FSCB	44044493	0.001000	0.12720	0.008000	0.14137	0.074000	0.17049	0.833000	0.27504	0.657000	0.30906	0.499000	0.49734	CCT		0.502	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		6	40	1	0	0.00116845	1	0.00129152	6	40				
RLBP1	6017	broad.mit.edu	37	15	89760507	89760507	+	Nonsense_Mutation	SNP	G	G	A	rs561618945		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:89760507G>A	ENST00000268125.5	-	5	629	c.190C>T	c.(190-192)Cga>Tga	p.R64*		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	64					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	cell body (GO:0044297)|cytosol (GO:0005829)	11-cis retinal binding (GO:0005502)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	TGCAGCTCTCGCACTGCCTCC	0.642																																						ENST00000268125.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18						c.(190-192)Cga>Tga		retinaldehyde binding protein 1	Vitamin A(DB00162)						76.0	75.0	75.0					15																	89760507		2200	4299	6499	SO:0001587	stop_gained	6017				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity	g.chr15:89760507G>A	BC004199	CCDS32324.1	15q26.1	2007-07-16	2001-11-28			ENSG00000140522			10024	protein-coding gene	gene with protein product		180090	"""retinaldehyde-binding protein 1"""			1733864, 9326942	Standard	NM_000326		Approved	CRALBP	uc002bnl.3	P12271		ENST00000268125.5:c.190C>T	15.37:g.89760507G>A	ENSP00000268125:p.Arg64*						p.R64*	NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN			5	629	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		64					B2R667	Nonsense_Mutation	SNP	ENST00000268125.5	37	c.190C>T	CCDS32324.1	.	.	.	.	.	.	.	.	.	.	G	39	7.432236	0.98279	.	.	ENSG00000140522	ENST00000268125	.	.	.	4.5	2.35	0.29111	.	0.221648	0.44097	D	0.000491	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-4.8864	10.822	0.46610	0.0:0.0:0.3747:0.6253	.	.	.	.	X	64	.	ENSP00000268125:R64X	R	-	1	2	RLBP1	87561511	1.000000	0.71417	0.546000	0.28166	0.703000	0.40648	4.013000	0.57138	1.050000	0.40346	0.561000	0.74099	CGA		0.642	RLBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421135.1	NM_000326		18	87	0	0	0	1	0	18	87				
PRLR	5618	broad.mit.edu	37	5	35065731	35065731	+	Silent	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:35065731A>T	ENST00000382002.5	-	10	1755	c.1329T>A	c.(1327-1329)ccT>ccA	p.P443P	PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000342362.5_Silent_p.P342P|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000511486.1_Silent_p.P342P|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000397391.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	443					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	GTGCACCTGCAGGGCCCACAG	0.498																																						ENST00000382002.5																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1327-1329)ccT>ccA		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						96.0	102.0	100.0					5																	35065731		2203	4300	6503	SO:0001819	synonymous_variant	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35065731A>T		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1329T>A	5.37:g.35065731A>T						PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000342362.5_Silent_p.P342P|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Silent_p.P342P	p.P443P	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		10	1755	-	all_lung(31;3.83e-05)		443					B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Silent	SNP	ENST00000382002.5	37	c.1329T>A	CCDS3909.1																																																																																				0.498	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			30	134	0	0	0	1	0	30	134				
PCNXL2	80003	broad.mit.edu	37	1	233334708	233334708	+	Missense_Mutation	SNP	C	C	G	rs201105597		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:233334708C>G	ENST00000258229.9	-	15	3277	c.3043G>C	c.(3043-3045)Gca>Cca	p.A1015P	PCNXL2_ENST00000488780.2_Missense_Mutation_p.A148P	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1015						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AAGCAGACTGCGTGGAGCAGG	0.468																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(3043-3045)Gca>Cca		pecanex-like 2 (Drosophila)							17.0	19.0	18.0					1																	233334708		1973	4163	6136	SO:0001583	missense	80003					integral to membrane		g.chr1:233334708C>G	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.3043G>C	1.37:g.233334708C>G	ENSP00000258229:p.Ala1015Pro					PCNXL2_ENST00000488780.2_Missense_Mutation_p.A148P	p.A1015P	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			15	3277	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1015					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.3043G>C	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827372	0.50845	.	.	ENSG00000135749	ENST00000258229;ENST00000488780	T	0.09163	3.01	5.33	4.42	0.53409	.	.	.	.	.	T	0.12732	0.0309	L	0.54323	1.7	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.02546	-1.1143	9	0.59425	D	0.04	.	11.8201	0.52235	0.1382:0.7289:0.1329:0.0	.	1015	A6NKB5	PCX2_HUMAN	P	1015;148	ENSP00000258229:A1015P	ENSP00000258229:A1015P	A	-	1	0	PCNXL2	231401331	0.001000	0.12720	0.458000	0.27068	0.133000	0.20885	1.272000	0.33109	1.259000	0.44117	-0.226000	0.12346	GCA		0.468	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		3	12	0	0	0	1	0	3	12				
COPB1	1315	broad.mit.edu	37	11	14502569	14502569	+	Silent	SNP	T	T	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:14502569T>G	ENST00000249923.3	-	9	1332	c.1032A>C	c.(1030-1032)gcA>gcC	p.A344A	RNU7-49P_ENST00000516182.1_RNA|COPB1_ENST00000439561.2_Silent_p.A344A	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	344					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CAAGATCCAGTGCTAACTGCA	0.363																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(1030-1032)gcA>gcC		coatomer protein complex, subunit beta 1							142.0	148.0	146.0					11																	14502569		2200	4294	6494	SO:0001819	synonymous_variant	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14502569T>G	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1032A>C	11.37:g.14502569T>G						COPB1_ENST00000439561.2_Silent_p.A344A	p.A344A	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			9	1332	-			344					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Silent	SNP	ENST00000249923.3	37	c.1032A>C	CCDS7815.1																																																																																				0.363	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		7	105	0	0	0	1	0	7	105				
SLIT2	9353	broad.mit.edu	37	4	20599920	20599920	+	Silent	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:20599920G>C	ENST00000504154.1	+	33	3846	c.3594G>C	c.(3592-3594)ctG>ctC	p.L1198L	SLIT2_ENST00000503823.1_Silent_p.L1190L|SLIT2_ENST00000273739.5_Silent_p.L1211L|SLIT2_ENST00000503837.1_Silent_p.L1194L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1198	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAATCCTCCTGTATAAGGGTG	0.483																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(3592-3594)ctG>ctC		slit homolog 2 (Drosophila)							170.0	153.0	159.0					4																	20599920		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20599920G>C	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3594G>C	4.37:g.20599920G>C						SLIT2_ENST00000273739.5_Silent_p.L1211L|SLIT2_ENST00000503837.1_Silent_p.L1194L|SLIT2_ENST00000503823.1_Silent_p.L1190L	p.L1198L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			33	3846	+			1198			Laminin G-like.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.3594G>C	CCDS3426.1																																																																																				0.483	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			6	107	0	0	0	1	0	6	107				
SMPDL3B	27293	broad.mit.edu	37	1	28282338	28282338	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:28282338C>G	ENST00000373894.3	+	6	1025	c.834C>G	c.(832-834)caC>caG	p.H278Q	SMPDL3B_ENST00000549094.1_Missense_Mutation_p.H230Q|SMPDL3B_ENST00000373888.4_Missense_Mutation_p.H278Q|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	278					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		TCGGGCACCACCACACCGACA	0.562																																						ENST00000373894.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16						c.(832-834)caC>caG		sphingomyelin phosphodiesterase, acid-like 3B							122.0	101.0	108.0					1																	28282338		2203	4300	6503	SO:0001583	missense	27293				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr1:28282338C>G	Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.834C>G	1.37:g.28282338C>G	ENSP00000363001:p.His278Gln					SMPDL3B_ENST00000373888.4_Missense_Mutation_p.H278Q|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.H230Q|RP11-460I13.2_ENST00000448015.1_RNA	p.H278Q	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)	6	1025	+		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	278					B7ZB35|Q5T0Z0|Q96CB7	Missense_Mutation	SNP	ENST00000373894.3	37	c.834C>G	CCDS30655.1	.	.	.	.	.	.	.	.	.	.	C	6.319	0.426936	0.11987	.	.	ENSG00000130768	ENST00000373894;ENST00000373888;ENST00000549094;ENST00000412515	D;D;D	0.89617	-2.54;-2.54;-2.54	5.34	-1.2	0.09554	Metallophosphoesterase domain (1);	0.093141	0.64402	N	0.000001	T	0.78666	0.4319	L	0.43152	1.355	0.41722	D	0.989516	P;P;B	0.36768	0.514;0.569;0.372	B;B;B	0.35770	0.133;0.21;0.133	T	0.64228	-0.6457	10	0.33940	T	0.23	-14.8933	2.3449	0.04269	0.1267:0.276:0.1246:0.4727	.	230;278;278	F8VWW8;Q92485;Q92485-2	.;ASM3B_HUMAN;.	Q	278;278;230;230	ENSP00000363001:H278Q;ENSP00000362995:H278Q;ENSP00000449450:H230Q	ENSP00000362995:H278Q	H	+	3	2	SMPDL3B	28154925	0.094000	0.21725	0.972000	0.41901	0.167000	0.22549	-0.560000	0.05964	-0.551000	0.06175	-0.379000	0.06801	CAC		0.562	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011170.1	NM_014474		6	53	0	0	0	1	0	6	53				
FNIP1	96459	broad.mit.edu	37	5	131007220	131007220	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:131007220C>A	ENST00000510461.1	-	14	3012	c.2917G>T	c.(2917-2919)Gag>Tag	p.E973*	FNIP1_ENST00000307954.8_Nonsense_Mutation_p.E928*|FNIP1_ENST00000307968.7_Nonsense_Mutation_p.E945*|CTC-432M15.3_ENST00000514667.1_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	973					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		ATCTCATCCTCTTCTGCCCAA	0.403																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2833-2835)Gag>Tag		folliculin interacting protein 1							207.0	199.0	202.0					5																	131007220		2203	4300	6503	SO:0001587	stop_gained	96459							g.chr5:131007220C>A	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.2917G>T	5.37:g.131007220C>A	ENSP00000421985:p.Glu973*					FNIP1_ENST00000307954.8_Nonsense_Mutation_p.E928*|FNIP1_ENST00000510461.1_Nonsense_Mutation_p.E973*|FNIP1_ENST00000514667.1_Intron	p.E945*	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	13	2832	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Nonsense_Mutation	SNP	ENST00000510461.1	37	c.2833G>T	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	38	6.673641	0.97751	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-8.4678	20.0912	0.97820	0.0:1.0:0.0:0.0	.	.	.	.	X	945;928;725;973	.	ENSP00000310453:E928X	E	-	1	0	FNIP1	131035119	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.792000	0.75125	2.746000	0.94184	0.591000	0.81541	GAG		0.403	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		10	95	1	0	3.86212e-05	1	4.52916e-05	10	95				
KIFC1	3833	broad.mit.edu	37	6	33371793	33371793	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:33371793G>C	ENST00000428849.2	+	6	1093	c.643G>C	c.(643-645)Gag>Cag	p.E215Q		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	215					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TTGTGTCCTGGAGCTGGAAGA	0.577																																						ENST00000428849.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						c.(643-645)Gag>Cag		kinesin family member C1							101.0	102.0	102.0					6																	33371793		2203	4300	6503	SO:0001583	missense	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33371793G>C	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.643G>C	6.37:g.33371793G>C	ENSP00000393963:p.Glu215Gln						p.E215Q	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN			6	1093	+			215					O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	c.643G>C	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904897	0.33628	.	.	ENSG00000237649	ENST00000428849	T	0.80123	-1.34	5.17	4.3	0.51218	.	0.282288	0.39475	N	0.001355	T	0.73822	0.3636	M	0.63843	1.955	0.30373	N	0.782676	D;D	0.54047	0.964;0.964	P;P	0.52672	0.706;0.706	T	0.68671	-0.5347	10	0.32370	T	0.25	-9.4469	9.4948	0.38982	0.0956:0.0:0.9044:0.0	.	207;215	B4E063;Q9BW19	.;KIFC1_HUMAN	Q	215	ENSP00000393963:E215Q	ENSP00000393963:E215Q	E	+	1	0	KIFC1	33479771	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	2.774000	0.47694	1.422000	0.47177	-0.253000	0.11424	GAG		0.577	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		9	115	0	0	0	1	0	9	115				
ZNF329	79673	broad.mit.edu	37	19	58639352	58639352	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:58639352T>A	ENST00000598312.1	-	4	1752	c.1519A>T	c.(1519-1521)Agg>Tgg	p.R507W	ZNF329_ENST00000358067.4_Missense_Mutation_p.R507W	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	507					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GGACCCTCCCTGCTATGGAGT	0.512																																						ENST00000598312.1																			0				NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20						c.(1519-1521)Agg>Tgg		zinc finger protein 329							135.0	131.0	132.0					19																	58639352		2203	4300	6503	SO:0001583	missense	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58639352T>A	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.1519A>T	19.37:g.58639352T>A	ENSP00000470008:p.Arg507Trp					ZNF329_ENST00000358067.4_Missense_Mutation_p.R507W	p.R507W	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	1752	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	507					B3KR32|Q9H9R7	Missense_Mutation	SNP	ENST00000598312.1	37	c.1519A>T	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	T	17.74	3.464708	0.63513	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.29397	1.57;1.57	4.22	4.22	0.49857	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000277	T	0.41811	0.1175	M	0.66439	2.03	0.41788	D	0.989854	D	0.71674	0.998	P	0.57101	0.813	T	0.42816	-0.9429	10	0.87932	D	0	-15.4659	5.3421	0.15988	0.0:0.1921:0.0:0.8079	.	507	Q86UD4	ZN329_HUMAN	W	507	ENSP00000350773:R507W;ENSP00000439527:R507W	ENSP00000350773:R507W	R	-	1	2	ZNF329	63331164	0.355000	0.24921	0.998000	0.56505	0.899000	0.52679	2.792000	0.47837	2.142000	0.66516	0.533000	0.62120	AGG		0.512	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		15	184	0	0	0	1	0	15	184				
KDM4C	23081	broad.mit.edu	37	9	6990518	6990518	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:6990518G>T	ENST00000381309.3	+	12	2345	c.1780G>T	c.(1780-1782)Gat>Tat	p.D594Y	KDM4C_ENST00000535193.1_Missense_Mutation_p.D616Y|KDM4C_ENST00000536108.1_Missense_Mutation_p.D413Y|KDM4C_ENST00000428870.2_Missense_Mutation_p.D281Y|KDM4C_ENST00000543771.1_Missense_Mutation_p.D594Y|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000381306.3_Missense_Mutation_p.D594Y	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	594					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GGCGCCAAGTGATGAAGGTGA	0.403																																						ENST00000381309.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1780-1782)Gat>Tat		lysine (K)-specific demethylase 4C							49.0	41.0	44.0					9																	6990518		2203	4300	6503	SO:0001583	missense	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:6990518G>T	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.1780G>T	9.37:g.6990518G>T	ENSP00000370710:p.Asp594Tyr					KDM4C_ENST00000381306.3_Missense_Mutation_p.D594Y|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000535193.1_Missense_Mutation_p.D616Y|KDM4C_ENST00000543771.1_Missense_Mutation_p.D594Y|KDM4C_ENST00000536108.1_Missense_Mutation_p.D413Y|KDM4C_ENST00000428870.2_Missense_Mutation_p.D281Y	p.D594Y	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN			12	2345	+			594					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	c.1780G>T	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017685	0.75161	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000536108;ENST00000428870	T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22	4.8	4.8	0.61643	.	0.277275	0.40302	N	0.001126	T	0.77903	0.4200	M	0.83384	2.64	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.989;0.999;1.0	T	0.81726	-0.0801	10	0.87932	D	0	-35.5394	16.2219	0.82265	0.0:0.0:1.0:0.0	.	594;616;594;594	F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;KDM4C_HUMAN;.	Y	616;594;594;594;413;281	ENSP00000442382:D616Y;ENSP00000445427:D594Y;ENSP00000370710:D594Y;ENSP00000370707:D594Y;ENSP00000440656:D413Y;ENSP00000405739:D281Y	ENSP00000370707:D594Y	D	+	1	0	KDM4C	6980518	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	8.040000	0.89188	2.495000	0.84180	0.557000	0.71058	GAT		0.403	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		10	24	1	0	7.48243e-07	1	9.52095e-07	10	24				
NEB	4703	broad.mit.edu	37	2	152432252	152432252	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:152432252G>A	ENST00000172853.10	-	79	12014	c.11867C>T	c.(11866-11868)cCa>cTa	p.P3956L	NEB_ENST00000603639.1_Missense_Mutation_p.P5657L|NEB_ENST00000427231.2_Missense_Mutation_p.P5657L|NEB_ENST00000397345.3_Missense_Mutation_p.P5657L|NEB_ENST00000604864.1_Missense_Mutation_p.P5657L|NEB_ENST00000409198.1_Missense_Mutation_p.P3956L			P20929	NEBU_HUMAN	nebulin	3956					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTAATTTCTGGAGTATCTGG	0.358																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(16969-16971)cCa>cTa		nebulin							298.0	296.0	297.0					2																	152432252		1836	4094	5930	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152432252G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11867C>T	2.37:g.152432252G>A	ENSP00000172853:p.Pro3956Leu					NEB_ENST00000604864.1_Missense_Mutation_p.P5657L|NEB_ENST00000172853.10_Missense_Mutation_p.P3956L|NEB_ENST00000427231.2_Missense_Mutation_p.P5657L|NEB_ENST00000409198.1_Missense_Mutation_p.P3956L|NEB_ENST00000603639.1_Missense_Mutation_p.P5657L	p.P5657L	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	107	17172	-			5672					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.16970C>T		.	.	.	.	.	.	.	.	.	.	G	26.8	4.768832	0.90020	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.84469	0.5479	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84390	0.0554	10	0.46703	T	0.11	.	19.9145	0.97053	0.0:0.0:1.0:0.0	.	3956;387	P20929;Q14215	NEBU_HUMAN;.	L	3956;5657;5657;5;387;3956	ENSP00000386259:P3956L;ENSP00000380505:P5657L;ENSP00000416578:P5657L;ENSP00000410961:P387L;ENSP00000172853:P3956L	ENSP00000172853:P3956L	P	-	2	0	NEB	152140498	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.398000	0.73244	2.709000	0.92574	0.655000	0.94253	CCA		0.358	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		34	173	0	0	0	1	0	34	173				
OR8H3	390152	broad.mit.edu	37	11	55890519	55890519	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:55890519C>A	ENST00000313472.3	+	1	671	c.671C>A	c.(670-672)aCc>aAc	p.T224N		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ATTCTCTCTACCATCCTGAAA	0.413																																						ENST00000313472.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(670-672)aCc>aAc		olfactory receptor, family 8, subfamily H, member 3							155.0	143.0	147.0					11																	55890519		2201	4294	6495	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890519C>A	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.671C>A	11.37:g.55890519C>A	ENSP00000323928:p.Thr224Asn						p.T224N	NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN			1	671	+	Esophageal squamous(21;0.00693)		224					Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.671C>A	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	C	4.739	0.137449	0.09032	.	.	ENSG00000181761	ENST00000313472	T	0.00193	8.58	3.62	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.116946	0.39341	N	0.001399	T	0.00300	0.0009	M	0.75884	2.315	0.09310	N	1	B	0.30664	0.289	B	0.37451	0.25	T	0.21381	-1.0247	10	0.42905	T	0.14	.	12.4558	0.55704	0.1682:0.8318:0.0:0.0	.	224	Q8N146	OR8H3_HUMAN	N	224	ENSP00000323928:T224N	ENSP00000323928:T224N	T	+	2	0	OR8H3	55647095	0.000000	0.05858	0.056000	0.19401	0.084000	0.17831	0.840000	0.27600	1.734000	0.51633	0.173000	0.16961	ACC		0.413	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		13	142	1	0	4.14922e-12	1	6.07349e-12	13	142				
LRRTM3	347731	broad.mit.edu	37	10	68686993	68686993	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:68686993G>T	ENST00000361320.4	+	2	897	c.319G>T	c.(319-321)Gga>Tga	p.G107*	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	107					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGCTTTTAATGGAATACGCAG	0.358																																						ENST00000361320.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						c.(319-321)Gga>Tga		leucine rich repeat transmembrane neuronal 3							99.0	103.0	102.0					10																	68686993		2203	4300	6503	SO:0001587	stop_gained	347731					integral to membrane		g.chr10:68686993G>T	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.319G>T	10.37:g.68686993G>T	ENSP00000355187:p.Gly107*					CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron	p.G107*	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN			2	897	+			107					A8K2A3|Q2NKX7|Q6N0A3	Nonsense_Mutation	SNP	ENST00000361320.4	37	c.319G>T	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	G	41	9.143757	0.99080	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	.	.	.	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.0114	0.89225	0.0:0.0:1.0:0.0	.	.	.	.	X	107	.	ENSP00000355187:G107X	G	+	1	0	LRRTM3	68356999	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.543000	0.85770	0.655000	0.94253	GGA		0.358	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		13	114	1	0	2.68362e-12	1	3.94248e-12	13	114				
CHD4	1108	broad.mit.edu	37	12	6709540	6709540	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:6709540A>T	ENST00000357008.2	-	9	1248	c.1085T>A	c.(1084-1086)gTg>gAg	p.V362E	CHD4_ENST00000544040.1_Missense_Mutation_p.V355E|CHD4_ENST00000309577.6_Missense_Mutation_p.V362E|CHD4_ENST00000544484.1_Missense_Mutation_p.V359E	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	362					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						ATAACCATCCACAGCAGTCAC	0.562																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(1084-1086)gTg>gAg		chromodomain helicase DNA binding protein 4							118.0	111.0	114.0					12																	6709540		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6709540A>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1085T>A	12.37:g.6709540A>T	ENSP00000349508:p.Val362Glu					CHD4_ENST00000544484.1_Missense_Mutation_p.V359E|CHD4_ENST00000544040.1_Missense_Mutation_p.V355E|CHD4_ENST00000357008.2_Missense_Mutation_p.V362E	p.V362E			Q14839	CHD4_HUMAN			9	1248	-			362					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.1085T>A	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	A	1.302	-0.604684	0.03717	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85	3.62	3.62	0.41486	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.226096	0.36591	N	0.002518	T	0.72581	0.3478	L	0.29908	0.895	0.41125	D	0.985847	B;B;B	0.30511	0.0;0.282;0.001	B;B;B	0.33196	0.0;0.159;0.001	T	0.66252	-0.5970	10	0.02654	T	1	2.3488	9.6315	0.39782	0.8244:0.1756:0.0:0.0	.	362;362;355	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	E	359;355;362;362;336	ENSP00000440392:V359E;ENSP00000440542:V355E;ENSP00000312419:V362E;ENSP00000349508:V362E	ENSP00000312419:V362E	V	-	2	0	CHD4	6579801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.913000	0.48790	1.879000	0.54435	0.459000	0.35465	GTG		0.562	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		12	90	0	0	0	1	0	12	90				
S100A16	140576	broad.mit.edu	37	1	153580603	153580603	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:153580603C>T	ENST00000368704.1	-	2	210	c.25G>A	c.(25-27)Gag>Aag	p.E9K	S100A16_ENST00000368706.4_Missense_Mutation_p.E9K|S100A16_ENST00000474991.1_5'UTR|S100A16_ENST00000368703.2_Missense_Mutation_p.E9K|S100A16_ENST00000368705.2_Missense_Mutation_p.E9K			Q96FQ6	S10AG_HUMAN	S100 calcium binding protein A16	9					response to calcium ion (GO:0051592)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(1)|prostate(1)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTGCCTTCTCCAGCTCCGTG	0.547																																					Melanoma(71;1388 1729 37039 46098)	ENST00000368704.1																			0				breast(1)|large_intestine(1)|prostate(1)	3						c.(25-27)Gag>Aag		S100 calcium binding protein A16							92.0	84.0	87.0					1																	153580603		2203	4300	6503	SO:0001583	missense	140576					cytosol|nucleolus	calcium ion binding|protein homodimerization activity	g.chr1:153580603C>T	BC010541	CCDS1045.1	1q21	2014-01-28			ENSG00000188643	ENSG00000188643		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	20441	protein-coding gene	gene with protein product						9417904	Standard	NM_080388		Approved	S100F, DT1P1A7, MGC17528	uc001fcd.1	Q96FQ6	OTTHUMG00000013545	ENST00000368704.1:c.25G>A	1.37:g.153580603C>T	ENSP00000357693:p.Glu9Lys					S100A16_ENST00000368703.2_Missense_Mutation_p.E9K|S100A16_ENST00000474991.1_5'UTR|S100A16_ENST00000368705.2_Missense_Mutation_p.E9K|S100A16_ENST00000368706.4_Missense_Mutation_p.E9K	p.E9K			Q96FQ6	S10AG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	210	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		9					A8K439|D3DV52|Q5RHS6	Missense_Mutation	SNP	ENST00000368704.1	37	c.25G>A	CCDS1045.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760577	0.89932	.	.	ENSG00000188643	ENST00000368704;ENST00000368705;ENST00000368706;ENST00000368703	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	4.49	4.49	0.54785	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.000000	0.53938	D	0.000049	T	0.07503	0.0189	M	0.80183	2.485	0.37410	D	0.913199	P	0.45768	0.866	B	0.32762	0.152	T	0.08391	-1.0724	10	0.72032	D	0.01	0.9085	12.903	0.58135	0.0:1.0:0.0:0.0	.	9	Q96FQ6	S10AG_HUMAN	K	9	ENSP00000357693:E9K;ENSP00000357694:E9K;ENSP00000357695:E9K;ENSP00000357692:E9K	ENSP00000357692:E9K	E	-	1	0	S100A16	151847227	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.169000	0.58223	2.515000	0.84797	0.456000	0.33151	GAG		0.547	S100A16-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037713.1	NM_080388		6	58	0	0	0	1	0	6	58				
ZFYVE28	57732	broad.mit.edu	37	4	2321975	2321975	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:2321975C>G	ENST00000290974.2	-	7	1064	c.725G>C	c.(724-726)gGa>gCa	p.G242A	ZFYVE28_ENST00000515312.1_Missense_Mutation_p.G172A|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.G212A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	242					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.G242E(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GTTCAGAGGTCCGTCCGCATA	0.602																																						ENST00000290974.2																			1	Substitution - Missense(1)	p.G242E(1)	lung(1)	NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(724-726)gGa>gCa		zinc finger, FYVE domain containing 28							98.0	87.0	91.0					4																	2321975		2203	4300	6503	SO:0001583	missense	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2321975C>G	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.725G>C	4.37:g.2321975C>G	ENSP00000290974:p.Gly242Ala					ZFYVE28_ENST00000515312.1_Missense_Mutation_p.G172A|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.G212A	p.G242A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN			7	1064	-			242					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	c.725G>C	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515731	0.85495	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.26067	1.76;1.76;1.76	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.53400	0.1794	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.56226	-0.8014	10	0.72032	D	0.01	.	17.8039	0.88596	0.0:1.0:0.0:0.0	.	212;242	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	A	242;212;172	ENSP00000290974:G242A;ENSP00000425706:G212A;ENSP00000426299:G172A	ENSP00000290974:G242A	G	-	2	0	ZFYVE28	2291773	1.000000	0.71417	0.984000	0.44739	0.782000	0.44232	5.942000	0.70203	2.536000	0.85505	0.650000	0.86243	GGA		0.602	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		4	47	0	0	0	1	0	4	47				
SRRM2	23524	broad.mit.edu	37	16	2812914	2812914	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:2812914G>T	ENST00000301740.8	+	11	2934	c.2385G>T	c.(2383-2385)agG>agT	p.R795S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	795	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CACCACCCAGGCGCAGTCGCT	0.522																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(2383-2385)agG>agT		serine/arginine repetitive matrix 2							207.0	207.0	207.0					16																	2812914		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812914G>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2385G>T	16.37:g.2812914G>T	ENSP00000301740:p.Arg795Ser						p.R795S	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	2934	+			795			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.2385G>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	5.389	0.256936	0.10185	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.37411	1.2	5.73	-0.246	0.13022	.	0.078778	0.53938	D	0.000041	T	0.21267	0.0512	L	0.27053	0.805	0.22412	N	0.99913	B	0.33694	0.421	B	0.28139	0.086	T	0.13098	-1.0522	10	0.52906	T	0.07	-5.3712	10.808	0.46529	0.3483:0.0:0.6517:0.0	.	795	Q9UQ35	SRRM2_HUMAN	S	795;795;47;760	ENSP00000301740:R795S	ENSP00000301740:R795S	R	+	3	2	SRRM2	2752915	0.998000	0.40836	0.502000	0.27614	0.195000	0.23768	0.781000	0.26774	-0.011000	0.14247	-0.136000	0.14681	AGG		0.522	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			24	319	1	0	9.57634e-11	1	1.37927e-10	24	319				
IGSF5	150084	broad.mit.edu	37	21	41165460	41165460	+	Splice_Site	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:41165460G>A	ENST00000380588.4	+	8	1151		c.e8-1			NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5						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)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TTCTGTTGCAGACACCGCTTC	0.413																																						ENST00000380588.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23						c.e8-1		immunoglobulin superfamily, member 5							122.0	126.0	125.0					21																	41165460		2203	4300	6503	SO:0001630	splice_region_variant	150084					integral to membrane|tight junction		g.chr21:41165460G>A		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.1049-1G>A	21.37:g.41165460G>A								NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN			8	1151	+		Prostate(19;5.35e-06)							Splice_Site	SNP	ENST00000380588.4	37		CCDS33562.1	.	.	.	.	.	.	.	.	.	.	G	7.149	0.583449	0.13749	.	.	ENSG00000183067	ENST00000380588	.	.	.	4.15	4.15	0.48705	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2712	0.54708	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IGSF5	40087330	0.997000	0.39634	0.957000	0.39632	0.025000	0.11179	3.549000	0.53681	2.605000	0.88082	0.591000	0.81541	.		0.413	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1		Intron	14	67	0	0	0	1	0	14	67				
NRG3	10718	broad.mit.edu	37	10	83635788	83635788	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:83635788C>G	ENST00000404547.1	+	1	692	c.692C>G	c.(691-693)aCc>aGc	p.T231S	NRG3_ENST00000556918.1_5'Flank|NRG3_ENST00000372142.2_5'Flank|NRG3_ENST00000372141.2_Missense_Mutation_p.T231S|NRG3_ENST00000404576.2_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	231	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GCATACGCTACCTCCTCCTAC	0.612																																						ENST00000404547.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(691-693)aCc>aGc		neuregulin 3							105.0	80.0	88.0					10																	83635788		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:83635788C>G	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.692C>G	10.37:g.83635788C>G	ENSP00000384796:p.Thr231Ser					NRG3_ENST00000372141.2_Missense_Mutation_p.T231S	p.T231S			P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	1	692	+			231			Ser/Thr-rich.		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.692C>G	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023431	0.54683	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287	T;T	0.37411	1.2;1.25	4.01	4.01	0.46588	.	0.000000	0.47852	D	0.000209	T	0.42539	0.1207	L	0.36672	1.1	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.59115	0.852;0.852	T	0.10894	-1.0610	10	0.23302	T	0.38	-2.7858	14.0434	0.64690	0.0:1.0:0.0:0.0	.	231;231	B9EGV5;P56975-4	.;.	S	231	ENSP00000361214:T231S;ENSP00000384796:T231S	ENSP00000361214:T231S	T	+	2	0	NRG3	83625768	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.997000	0.57016	2.248000	0.74166	0.555000	0.69702	ACC		0.612	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		3	22	0	0	0	1	0	3	22				
LRRIQ3	127255	broad.mit.edu	37	1	74648348	74648348	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:74648348C>A	ENST00000395089.1	-	2	446	c.447G>T	c.(445-447)tgG>tgT	p.W149C	LRRIQ3_ENST00000370909.2_Intron|LRRIQ3_ENST00000354431.4_Missense_Mutation_p.W149C|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.W149C			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	149	LRRCT.									NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTTTGAGAGGCCATATACTGT	0.388																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(445-447)tgG>tgT		leucine-rich repeats and IQ motif containing 3							117.0	113.0	114.0					1																	74648348		2203	4299	6502	SO:0001583	missense	127255							g.chr1:74648348C>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.447G>T	1.37:g.74648348C>A	ENSP00000378524:p.Trp149Cys					LRRIQ3_ENST00000370909.2_Intron|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.W149C|LRRIQ3_ENST00000395089.1_Missense_Mutation_p.W149C	p.W149C	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			3	638	-			149			LRRCT.		A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.447G>T	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797969	0.50208	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000388972;ENST00000370911	T;T;T	0.23552	1.9;1.9;1.9	5.65	5.65	0.86999	.	0.094739	0.47455	D	0.000236	T	0.36826	0.0981	L	0.59436	1.845	0.50632	D	0.999881	D	0.76494	0.999	D	0.66716	0.946	T	0.08932	-1.0698	10	0.62326	D	0.03	.	14.0574	0.64779	0.1515:0.8484:0.0:0.0	.	149	A6PVS8	LRIQ3_HUMAN	C	149	ENSP00000378524:W149C;ENSP00000346414:W149C;ENSP00000359948:W149C	ENSP00000346414:W149C	W	-	3	0	LRRIQ3	74420936	1.000000	0.71417	0.995000	0.50966	0.720000	0.41350	2.316000	0.43761	2.653000	0.90120	0.650000	0.86243	TGG		0.388	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		6	77	1	0	0.217242	1	0.218867	6	77				
REC8	9985	broad.mit.edu	37	14	24642506	24642506	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:24642506C>T	ENST00000311457.3	+	6	947	c.348C>T	c.(346-348)agC>agT	p.S116S	REC8_ENST00000559919.1_Silent_p.S116S			O95072	REC8_HUMAN	REC8 meiotic recombination protein	116					double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CCAGACCCAGCCTGCTGCTTC	0.557																																					NSCLC(139;1764 2537 12868 49041)	ENST00000311457.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(346-348)agC>agT		REC8 meiotic recombination protein							129.0	138.0	135.0					14																	24642506		2054	4194	6248	SO:0001819	synonymous_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24642506C>T	AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"""REC8-like 1 (yeast)"", ""REC8 homolog (yeast)"""	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.348C>T	14.37:g.24642506C>T						REC8_ENST00000559919.1_Silent_p.S116S	p.S116S			O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	6	947	+			116					A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Silent	SNP	ENST00000311457.3	37	c.348C>T	CCDS41932.1																																																																																				0.557	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3	NM_005132		74	100	0	0	0	1	0	74	100				
GUCY2F	2986	broad.mit.edu	37	X	108652357	108652357	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:108652357C>T	ENST00000218006.2	-	9	2123	c.1832G>A	c.(1831-1833)gGt>gAt	p.G611D		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	611	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ATAGAAGAAACCCAATAAAGG	0.443																																						ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(1831-1833)gGt>gAt		guanylate cyclase 2F, retinal							117.0	100.0	106.0					X																	108652357		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108652357C>T	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.1832G>A	X.37:g.108652357C>T	ENSP00000218006:p.Gly611Asp						p.G611D	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			9	2123	-			611			Protein kinase.		Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.1832G>A	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489574	0.84962	.	.	ENSG00000101890	ENST00000218006	D	0.89123	-2.47	4.34	4.34	0.51931	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95373	0.8498	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96097	0.9066	10	0.87932	D	0	.	13.7311	0.62787	0.0:1.0:0.0:0.0	.	611	P51841	GUC2F_HUMAN	D	611	ENSP00000218006:G611D	ENSP00000218006:G611D	G	-	2	0	GUCY2F	108539013	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	5.690000	0.68241	2.411000	0.81874	0.600000	0.82982	GGT		0.443	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		22	45	0	0	0	1	0	22	45				
SLIT2	9353	broad.mit.edu	37	4	20525726	20525726	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:20525726C>A	ENST00000504154.1	+	14	1616	c.1364C>A	c.(1363-1365)gCc>gAc	p.A455D	SLIT2_ENST00000503823.1_Missense_Mutation_p.A455D|SLIT2_ENST00000273739.5_Missense_Mutation_p.A459D|SLIT2_ENST00000503837.1_Missense_Mutation_p.A459D	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	455	LRRCT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACCAGTGGTGCCCGTTGCACC	0.488																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(1363-1365)gCc>gAc		slit homolog 2 (Drosophila)							115.0	125.0	122.0					4																	20525726		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20525726C>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1364C>A	4.37:g.20525726C>A	ENSP00000422591:p.Ala455Asp					SLIT2_ENST00000273739.5_Missense_Mutation_p.A459D|SLIT2_ENST00000503837.1_Missense_Mutation_p.A459D|SLIT2_ENST00000503823.1_Missense_Mutation_p.A455D	p.A455D	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			14	1616	+			455			LRRCT 2.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1364C>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237715	0.95240	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;T;D	0.81739	-1.53;-1.52;-1.44;-1.51	5.81	5.81	0.92471	Cysteine-rich flanking region, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92156	0.7513	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92923	0.6357	10	0.87932	D	0	.	20.0782	0.97758	0.0:1.0:0.0:0.0	.	455;455	O94813-3;O94813	.;SLIT2_HUMAN	D	455;455;459;459;459	ENSP00000427548:A455D;ENSP00000422591:A455D;ENSP00000273739:A459D;ENSP00000422261:A459D	ENSP00000273739:A459D	A	+	2	0	SLIT2	20134824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.746000	0.94184	0.655000	0.94253	GCC		0.488	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			13	134	1	0	1.5842e-08	1	2.14052e-08	13	134				
ADAMTS12	81792	broad.mit.edu	37	5	33658365	33658365	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:33658365G>T	ENST00000504830.1	-	7	1449	c.1114C>A	c.(1114-1116)Cct>Act	p.P372T	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P372T|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	372	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTGCGGTGAGGCTGACACATT	0.507										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(1114-1116)Cct>Act		ADAM metallopeptidase with thrombospondin type 1 motif, 12							146.0	145.0	145.0					5																	33658365		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33658365G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1114C>A	5.37:g.33658365G>T	ENSP00000422554:p.Pro372Thr	HNSCC(64;0.19)				ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P372T	p.P372T	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			7	1449	-			372			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.1114C>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	33	5.217336	0.95104	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.88354	-2.37;-2.37	6.17	6.17	0.99709	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.95140	0.8425	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.983	D	0.94614	0.7807	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	372;372	P58397-3;P58397	.;ATS12_HUMAN	T	372	ENSP00000422554:P372T;ENSP00000344847:P372T	ENSP00000344847:P372T	P	-	1	0	ADAMTS12	33694122	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.903000	0.87398	2.941000	0.99782	0.655000	0.94253	CCT		0.507	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		20	138	1	0	1.01871e-10	1	1.45943e-10	20	138				
RXFP2	122042	broad.mit.edu	37	13	32376514	32376514	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:32376514G>A	ENST00000298386.2	+	18	2308	c.2237G>A	c.(2236-2238)gGa>gAa	p.G746E	RXFP2_ENST00000380314.1_Missense_Mutation_p.G722E	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	746					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ATAACACTTGGAGACAGTATA	0.368																																						ENST00000298386.2																			0				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33						c.(2236-2238)gGa>gAa		relaxin/insulin-like family peptide receptor 2							174.0	190.0	184.0					13																	32376514		2202	4299	6501	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32376514G>A	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.2237G>A	13.37:g.32376514G>A	ENSP00000298386:p.Gly746Glu					RXFP2_ENST00000380314.1_Missense_Mutation_p.G722E	p.G746E	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	18	2308	+		Lung SC(185;0.0262)	746					B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.2237G>A	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017927	0.35606	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.71817	-0.6;-0.55	5.78	4.89	0.63831	.	0.280592	0.34652	N	0.003786	T	0.56804	0.2010	L	0.31294	0.92	0.34162	D	0.668751	B;B	0.13145	0.007;0.007	B;B	0.15052	0.012;0.012	T	0.62950	-0.6745	10	0.66056	D	0.02	.	7.845	0.29421	0.2529:0.0:0.7471:0.0	.	722;746	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	E	722;746	ENSP00000369670:G722E;ENSP00000298386:G746E	ENSP00000298386:G746E	G	+	2	0	RXFP2	31274514	1.000000	0.71417	0.998000	0.56505	0.868000	0.49771	1.908000	0.39907	1.352000	0.45808	0.655000	0.94253	GGA		0.368	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		49	167	0	0	0	1	0	49	167				
TBC1D17	79735	broad.mit.edu	37	19	50386085	50386085	+	Missense_Mutation	SNP	G	G	A	rs374395158		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:50386085G>A	ENST00000221543.5	+	8	1162	c.863G>A	c.(862-864)cGc>cAc	p.R288H	TBC1D17_ENST00000535102.2_Missense_Mutation_p.R255H	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	288	Required for interaction with OPTN.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GAGTGGGCACGCCACGTGGGC	0.667																																						ENST00000221543.5																			0				NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(862-864)cGc>cAc		TBC1 domain family, member 17		G	HIS/ARG,HIS/ARG	0,4404		0,0,2202	29.0	32.0	31.0		863,764	1.2	0.0	19		31	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	TBC1D17	NM_024682.2,NM_001168222.1	29,29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	288/649,255/616	50386085	1,13001	2202	4299	6501	SO:0001583	missense	79735					intracellular	Rab GTPase activator activity	g.chr19:50386085G>A	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.863G>A	19.37:g.50386085G>A	ENSP00000221543:p.Arg288His					TBC1D17_ENST00000535102.2_Missense_Mutation_p.R255H	p.R288H	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	8	1162	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	288					B4DT12|B9A6L8|F5H1W7	Missense_Mutation	SNP	ENST00000221543.5	37	c.863G>A	CCDS12785.1	.	.	.	.	.	.	.	.	.	.	G	7.042	0.562752	0.13498	0.0	1.16E-4	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.04194	3.68;3.68	4.89	1.21	0.21127	Rab-GAP/TBC domain (1);	0.926670	0.09120	N	0.845869	T	0.03477	0.0100	L	0.28115	0.83	0.09310	N	1	B;B	0.14805	0.011;0.0	B;B	0.10450	0.005;0.002	T	0.46748	-0.9169	10	0.46703	T	0.11	-3.3189	1.1987	0.01880	0.2225:0.1651:0.4427:0.1697	.	255;288	F5H1W7;Q9HA65	.;TBC17_HUMAN	H	288;255	ENSP00000221543:R288H;ENSP00000446323:R255H	ENSP00000221543:R288H	R	+	2	0	TBC1D17	55077897	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.328000	0.19681	0.167000	0.19631	0.561000	0.74099	CGC		0.667	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		4	41	0	0	0	1	0	4	41				
MUC17	140453	broad.mit.edu	37	7	100675534	100675534	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:100675534A>C	ENST00000306151.4	+	3	901	c.837A>C	c.(835-837)agA>agC	p.R279S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	279	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)					CATTAACAAGAATGCCTCTCA	0.507																																						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.(835-837)agA>agC		mucin 17, cell surface associated							159.0	155.0	156.0					7																	100675534		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100675534A>C	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.837A>C	7.37:g.100675534A>C	ENSP00000302716:p.Arg279Ser						p.R279S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	901	+	Lung NSC(181;0.136)|all_lung(186;0.182)		279			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.837A>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	1.698	-0.502200	0.04261	.	.	ENSG00000169876	ENST00000306151	T	0.02787	4.16	0.623	0.623	0.17654	.	.	.	.	.	T	0.01189	0.0039	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47459	-0.9116	9	0.05351	T	0.99	.	1.8829	0.03231	0.3067:0.0:0.3084:0.3849	.	279	Q685J3	MUC17_HUMAN	S	279	ENSP00000302716:R279S	ENSP00000302716:R279S	R	+	3	2	MUC17	100462254	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.675000	0.00396	-0.307000	0.08804	-2.264000	0.00278	AGA		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		19	215	0	0	0	1	0	19	215				
VNN3	55350	broad.mit.edu	37	6	133044184	133044184	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:133044184C>A	ENST00000207771.3	-	8	1456	c.1384G>T	c.(1384-1386)Gat>Tat	p.D462Y	VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000425515.2_3'UTR			Q9NY84	VNN3_HUMAN	vanin 3	463					nitrogen compound metabolic process (GO:0006807)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		AAGCGTCCATCTCTTGAAATC	0.502																																						ENST00000207771.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						c.(1384-1386)Gat>Tat		vanin 3							78.0	65.0	69.0					6																	133044184		876	1991	2867	SO:0001583	missense	55350							g.chr6:133044184C>A	AJ238982		6q23.2	2014-04-09	2010-11-15	2010-11-15	ENSG00000093134	ENSG00000093134	3.5.1.92	"""Vanins"""	16431	other	unknown		606592				10501839, 19932582, 19322213	Standard	NR_028290		Approved	HSA238982	uc010kfs.3	Q9NY84	OTTHUMG00000015589	ENST00000207771.3:c.1384G>T	6.37:g.133044184C>A	ENSP00000440594:p.Asp462Tyr					VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000509351.1_3'UTR	p.D462Y						OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)	8	1456	-	Breast(56;0.135)							B2DFY0|B2DFY1|B2DFY3|B2DFY5|B2DFY6|B2DFY7|B2DFY8|Q3SX90|Q9BQY2	Missense_Mutation	SNP	ENST00000207771.3	37	c.1384G>T		.	.	.	.	.	.	.	.	.	.	C	17.68	3.450413	0.63290	.	.	ENSG00000093134	ENST00000207771	D	0.94417	-3.42	5.18	5.18	0.71444	.	0.000000	0.64402	U	0.000009	D	0.95828	0.8642	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.95859	0.8881	7	0.59425	D	0.04	-18.5603	15.7879	0.78322	0.0:1.0:0.0:0.0	.	.	.	.	Y	462	ENSP00000440594:D462Y	ENSP00000440594:D462Y	D	-	1	0	VNN3	133085877	0.991000	0.36638	0.998000	0.56505	0.776000	0.43924	4.530000	0.60595	2.563000	0.86464	0.563000	0.77884	GAT		0.502	VNN3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NR_028290		3	18	1	0	0.115264	1	0.117444	3	18				
C11orf74	119710	broad.mit.edu	37	11	36680588	36680588	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:36680588A>T	ENST00000334307.5	+	6	633	c.518A>T	c.(517-519)cAa>cTa	p.Q173L	C11orf74_ENST00000347206.4_Missense_Mutation_p.Q99L|C11orf74_ENST00000446510.2_Intron|C11orf74_ENST00000534635.1_Missense_Mutation_p.Q99L	NM_138787.2	NP_620142.2	Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	173										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				GATGAAGTTCAACTTTTTTCA	0.323																																						ENST00000334307.5																			0				breast(1)|kidney(1)|large_intestine(1)|lung(5)	8						c.(517-519)cAa>cTa		chromosome 11 open reading frame 74							46.0	45.0	45.0					11																	36680588		2202	4298	6500	SO:0001583	missense	119710							g.chr11:36680588A>T	AK095997, BC009561	CCDS7904.1, CCDS60762.1	11p12	2012-08-10			ENSG00000166352	ENSG00000166352			25142	protein-coding gene	gene with protein product						12477932	Standard	NM_001276722		Approved	FLJ38678, HEPIS	uc031pzr.1	Q86VG3	OTTHUMG00000166397	ENST00000334307.5:c.518A>T	11.37:g.36680588A>T	ENSP00000334848:p.Gln173Leu					C11orf74_ENST00000347206.4_Missense_Mutation_p.Q99L|C11orf74_ENST00000534635.1_Missense_Mutation_p.Q99L|C11orf74_ENST00000446510.2_Intron	p.Q173L	NM_138787.2	NP_620142.2	Q86VG3	CK074_HUMAN			6	633	+	all_lung(20;0.226)	all_hematologic(20;0.0118)	173					D3DR18|Q96DD6	Missense_Mutation	SNP	ENST00000334307.5	37	c.518A>T	CCDS7904.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.810877	0.50421	.	.	ENSG00000166352	ENST00000334307;ENST00000531554;ENST00000347206;ENST00000534635	.	.	.	5.78	4.65	0.58169	.	0.096905	0.45606	D	0.000356	T	0.68035	0.2957	M	0.65975	2.015	0.80722	D	1	D;D	0.63046	0.992;0.992	P;P	0.59357	0.813;0.856	T	0.67546	-0.5643	8	.	.	.	-5.3416	10.6415	0.45596	0.9275:0.0:0.0725:0.0	.	173;99	Q86VG3;Q86VG3-2	CK074_HUMAN;.	L	173;173;99;99	.	.	Q	+	2	0	C11orf74	36637164	0.998000	0.40836	0.998000	0.56505	0.221000	0.24807	3.984000	0.56923	1.017000	0.39495	0.528000	0.53228	CAA		0.323	C11orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389567.1	NM_138787		5	24	0	0	0	1	0	5	24				
NRIP1	8204	broad.mit.edu	37	21	16339085	16339085	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:16339085C>A	ENST00000400202.1	-	3	2141	c.1429G>T	c.(1429-1431)Gat>Tat	p.D477Y	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000400199.1_Missense_Mutation_p.D477Y|NRIP1_ENST00000318948.4_Missense_Mutation_p.D477Y			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	477	Repression domain 2.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ATATCTACATCTGGGACTTTT	0.388																																						ENST00000400202.1																			0				cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(1429-1431)Gat>Tat		nuclear receptor interacting protein 1							140.0	135.0	137.0					21																	16339085		2203	4300	6503	SO:0001583	missense	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16339085C>A	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1429G>T	21.37:g.16339085C>A	ENSP00000383063:p.Asp477Tyr					NRIP1_ENST00000400199.1_Missense_Mutation_p.D477Y|NRIP1_ENST00000318948.4_Missense_Mutation_p.D477Y	p.D477Y			P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	3	2141	-			477			Repression domain 2.		Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	c.1429G>T	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	C	8.833	0.940483	0.18281	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.18657	2.2;2.2;2.2	5.85	4.0	0.46444	.	0.894418	0.09507	N	0.792818	T	0.12646	0.0307	N	0.08118	0	0.09310	N	0.999995	P	0.36315	0.547	B	0.37346	0.247	T	0.23868	-1.0176	10	0.56958	D	0.05	-9.9237	7.8991	0.29723	0.1357:0.7214:0.0:0.1428	.	477	P48552	NRIP1_HUMAN	Y	477	ENSP00000383060:D477Y;ENSP00000383063:D477Y;ENSP00000327213:D477Y	ENSP00000327213:D477Y	D	-	1	0	NRIP1	15260956	0.001000	0.12720	0.142000	0.22268	0.884000	0.51177	0.454000	0.21827	0.768000	0.33290	0.650000	0.86243	GAT		0.388	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		30	93	1	0	1.80694e-10	1	2.57952e-10	30	93				
PSMA1	5682	broad.mit.edu	37	11	14539270	14539270	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:14539270C>A	ENST00000396394.2	-	4	568	c.172G>T	c.(172-174)Gct>Tct	p.A58S	PSMA1_ENST00000419365.2_Missense_Mutation_p.A58S|PSMA1_ENST00000396393.1_Missense_Mutation_p.A58S|PSMA1_ENST00000530457.1_Missense_Mutation_p.A33S|PSMA1_ENST00000555531.1_Missense_Mutation_p.A58S|PSMA1_ENST00000418988.2_Missense_Mutation_p.A64S	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	58					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						TTCTGATGAGCTGCAAGCTCT	0.323																																						ENST00000530457.1																			0				large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(97-99)Gct>Tct		proteasome (prosome, macropain) subunit, alpha type, 1							106.0	104.0	105.0					11																	14539270		2200	4294	6494	SO:0001583	missense	5682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity	g.chr11:14539270C>A	X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084		"""Proteasome (prosome, macropain) subunits"""	9530	protein-coding gene	gene with protein product		602854				1398136, 2025653	Standard	NM_148976		Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000396394.2:c.172G>T	11.37:g.14539270C>A	ENSP00000379676:p.Ala58Ser					PSMA1_ENST00000555531.1_Missense_Mutation_p.A58S|PSMA1_ENST00000418988.2_Missense_Mutation_p.A64S|PSMA1_ENST00000396394.2_Missense_Mutation_p.A58S|PSMA1_ENST00000396393.1_Missense_Mutation_p.A58S|PSMA1_ENST00000419365.2_Missense_Mutation_p.A58S	p.A33S			P25786	PSA1_HUMAN			4	627	-			58					A8K400|Q53YE8|Q9BRV9	Missense_Mutation	SNP	ENST00000396394.2	37	c.97G>T	CCDS7816.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341310	0.24339	.	.	ENSG00000129084	ENST00000419365;ENST00000396394;ENST00000396393;ENST00000530457;ENST00000418988	T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1	5.64	5.64	0.86602	.	0.097399	0.64402	D	0.000001	T	0.09512	0.0234	N	0.03016	-0.435	0.80722	D	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.19148	0.015;0.004;0.024	T	0.13872	-1.0493	10	0.02654	T	1	-8.3607	17.888	0.88863	0.0:1.0:0.0:0.0	.	58;64;58	B4E0X6;P25786-2;P25786	.;.;PSA1_HUMAN	S	58;58;58;33;64	ENSP00000392242:A58S;ENSP00000379676:A58S;ENSP00000379675:A58S;ENSP00000441166:A33S;ENSP00000414359:A64S	ENSP00000379675:A58S	A	-	1	0	PSMA1	14495846	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.131000	0.77243	2.643000	0.89663	0.655000	0.94253	GCT		0.323	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386421.3	NM_002786		4	50	1	0	0.00024832	1	0.000283794	4	50				
CEP97	79598	broad.mit.edu	37	3	101446256	101446256	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:101446256G>T	ENST00000341893.3	+	3	968	c.216G>T	c.(214-216)cgG>cgT	p.R72R	CEP97_ENST00000327230.4_Silent_p.R72R|CEP97_ENST00000494050.1_Silent_p.R72R			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	72					cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GGCTGGTTCGGATGATGGGTG	0.348																																						ENST00000341893.3																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(214-216)cgG>cgT		centrosomal protein 97kDa							132.0	132.0	132.0					3																	101446256		2203	4300	6503	SO:0001819	synonymous_variant	79598					centrosome|nucleus	protein binding	g.chr3:101446256G>T	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.216G>T	3.37:g.101446256G>T						CEP97_ENST00000327230.4_Silent_p.R72R|CEP97_ENST00000494050.1_Silent_p.R72R	p.R72R			Q8IW35	CEP97_HUMAN			3	968	+			72					B5MDY8|Q8NA71|Q9H5T9	Silent	SNP	ENST00000341893.3	37	c.216G>T	CCDS2944.1																																																																																				0.348	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		7	127	1	0	5.18039e-06	1	6.40024e-06	7	127				
FRY	10129	broad.mit.edu	37	13	32786436	32786436	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:32786436C>T	ENST00000380250.3	+	35	5095	c.4599C>T	c.(4597-4599)acC>acT	p.T1533T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1533						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CAGGAACCACCTCTAGCAGCA	0.418																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(4597-4599)acC>acT		furry homolog (Drosophila)							72.0	65.0	67.0					13																	32786436		1833	4079	5912	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32786436C>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4599C>T	13.37:g.32786436C>T							p.T1533T	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	35	5095	+		Lung SC(185;0.0271)	1533					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.4599C>T	CCDS41875.1																																																																																				0.418	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		3	16	0	0	0	1	0	3	16				
ASB18	401036	broad.mit.edu	37	2	237150053	237150053	+	Intron	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:237150053C>A	ENST00000409749.3	-	2	205				AC079135.1_ENST00000415226.1_RNA|ASB18_ENST00000330842.6_Silent_p.L37L	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		CCCCTGCGACCAGGGCAGTGT	0.532																																						ENST00000330842.6																			0				large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6						c.(109-111)ctG>ctT		ankyrin repeat and SOCS box containing 18							67.0	67.0	67.0					2																	237150053		1949	4138	6087	SO:0001627	intron_variant	401036				intracellular signal transduction			g.chr2:237150053C>A	AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"""Ankyrin repeat domain containing"""	19770	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 18"""			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.206-8G>T	2.37:g.237150053C>A						ASB18_ENST00000409749.3_Intron|AC079135.1_ENST00000415226.1_RNA	p.L37L			Q6ZVZ8	ASB18_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)	1	205	-		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)	66					B6ZDL7	Silent	SNP	ENST00000409749.3	37	c.111G>T	CCDS46548.1																																																																																				0.532	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	NM_212556		8	51	1	0	1.26484e-09	1	1.77122e-09	8	51				
GAS2L2	246176	broad.mit.edu	37	17	34072475	34072475	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:34072475G>T	ENST00000254466.6	-	6	2068	c.2041C>A	c.(2041-2043)Cct>Act	p.P681T	GAS2L2_ENST00000587565.1_Missense_Mutation_p.P665T	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	681					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCTGGCTTAGGGGAGCCAGTC	0.607																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2041-2043)Cct>Act		growth arrest-specific 2 like 2							77.0	89.0	85.0					17																	34072475		2203	4298	6501	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34072475G>T	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2041C>A	17.37:g.34072475G>T	ENSP00000254466:p.Pro681Thr					GAS2L2_ENST00000587565.1_Missense_Mutation_p.P665T	p.P681T	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2068	-		Ovarian(249;0.17)	681					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.2041C>A	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.506096	0.44558	.	.	ENSG00000132139	ENST00000254466	T	0.18016	2.24	4.58	3.62	0.41486	.	0.737736	0.12736	N	0.443419	T	0.12220	0.0297	L	0.34521	1.04	0.09310	N	1	P	0.40875	0.731	B	0.34590	0.186	T	0.13926	-1.0491	10	0.62326	D	0.03	-0.0142	8.3089	0.32060	0.1072:0.0:0.8928:0.0	.	681	Q8NHY3	GA2L2_HUMAN	T	681	ENSP00000254466:P681T	ENSP00000254466:P681T	P	-	1	0	GAS2L2	31096588	0.528000	0.26314	0.027000	0.17364	0.719000	0.41307	1.991000	0.40727	1.171000	0.42768	0.313000	0.20887	CCT		0.607	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		20	205	1	0	1.33834e-09	1	1.87089e-09	20	205				
KRTAP11-1	337880	broad.mit.edu	37	21	32253745	32253745	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:32253745A>C	ENST00000332378.4	-	1	129	c.99T>G	c.(97-99)gaT>gaG	p.D33E		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	33						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						GGCAGTCAGCATCAGTGGTGG	0.562																																						ENST00000332378.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						c.(97-99)gaT>gaG		keratin associated protein 11-1							84.0	79.0	80.0					21																	32253745		2203	4300	6503	SO:0001583	missense	337880					keratin filament	structural molecule activity	g.chr21:32253745A>C	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"""Keratin associated proteins"""	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.99T>G	21.37:g.32253745A>C	ENSP00000330720:p.Asp33Glu						p.D33E	NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN			1	129	-			33					A1L4I8	Missense_Mutation	SNP	ENST00000332378.4	37	c.99T>G	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	A	5.334	0.246958	0.10130	.	.	ENSG00000182591	ENST00000332378	T	0.03004	4.08	5.4	-5.43	0.02632	.	0.619481	0.16118	N	0.228795	T	0.02193	0.0068	L	0.40543	1.245	0.09310	N	1	B	0.15930	0.015	B	0.20577	0.03	T	0.44982	-0.9292	10	0.22109	T	0.4	-1.0291	0.4909	0.00564	0.3886:0.1348:0.2375:0.2391	.	33	Q8IUC1	KR111_HUMAN	E	33	ENSP00000330720:D33E	ENSP00000330720:D33E	D	-	3	2	KRTAP11-1	31175616	0.012000	0.17670	0.002000	0.10522	0.202000	0.24057	-0.084000	0.11268	-0.479000	0.06813	-0.451000	0.05528	GAT		0.562	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			12	81	0	0	0	1	0	12	81				
IGLV3-32	28787	broad.mit.edu	37	22	22937305	22937305	+	RNA	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr22:22937305G>C	ENST00000390303.2	+	0	162									immunoglobulin lambda variable 3-32 (non-functional)																		TCACCTGCCAGGGAGACAGCA	0.582											OREG0026367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000390303.2																			0																				62.0	62.0	62.0					22																	22937305		1953	4148	6101			28787							g.chr22:22937305G>C	Z73645		22q11.2	2012-02-08	2008-09-15		ENSG00000211657	ENSG00000211657		"""Immunoglobulins / IGL locus"""	5914	other	immunoglobulin gene			"""immunoglobulin lambda variable 3-32"""				Standard	NG_000002		Approved				OTTHUMG00000151166		22.37:g.22937305G>C			OREG0026367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	759									0	162	+									RNA	SNP	ENST00000390303.2	37																																																																																						0.582	IGLV3-32-001	KNOWN	non_canonical_conserved|mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321635.2	NG_000002		5	69	0	0	0	1	0	5	69				
SCML4	256380	broad.mit.edu	37	6	108067951	108067951	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:108067951G>C	ENST00000369020.3	-	4	674	c.429C>G	c.(427-429)caC>caG	p.H143Q	SCML4_ENST00000369021.3_Missense_Mutation_p.H114Q|SCML4_ENST00000369022.2_Missense_Mutation_p.H85Q|SCML4_ENST00000479803.1_5'Flank	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	143					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GCTTCTGCTGGTGGGCGCAGT	0.627																																						ENST00000369022.2																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25						c.(253-255)caC>caG		sex comb on midleg-like 4 (Drosophila)							81.0	80.0	81.0					6																	108067951		2203	4300	6503	SO:0001583	missense	256380				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:108067951G>C		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.429C>G	6.37:g.108067951G>C	ENSP00000358016:p.His143Gln					SCML4_ENST00000369021.3_Missense_Mutation_p.H114Q|SCML4_ENST00000369020.3_Missense_Mutation_p.H143Q	p.H85Q			Q8N228	SCML4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)	3	464	-		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)	143					B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	ENST00000369020.3	37	c.255C>G	CCDS5060.2	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195957	0.38806	.	.	ENSG00000146285	ENST00000369022;ENST00000369020;ENST00000369021;ENST00000440927	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	4.98	4.98	0.66077	.	0.310896	0.39759	N	0.001278	T	0.36853	0.0982	L	0.50333	1.59	0.42605	D	0.99329	P;P;P	0.50369	0.934;0.91;0.839	P;P;B	0.52066	0.541;0.689;0.307	T	0.29852	-0.9998	10	0.66056	D	0.02	.	10.1975	0.43062	0.1532:0.0:0.8468:0.0	.	143;143;114	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	Q	85;143;114;114	ENSP00000358018:H85Q;ENSP00000358016:H143Q;ENSP00000358017:H114Q;ENSP00000404688:H114Q	ENSP00000358016:H143Q	H	-	3	2	SCML4	108174644	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.276000	0.51646	2.589000	0.87451	0.563000	0.77884	CAC		0.627	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		10	85	0	0	0	1	0	10	85				
BMP2K	55589	broad.mit.edu	37	4	79763573	79763573	+	Silent	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:79763573A>G	ENST00000335016.5	+	4	604	c.438A>G	c.(436-438)ctA>ctG	p.L146L	BMP2K_ENST00000502871.1_Silent_p.L146L	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	146	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATAAGAAGCTACAGACGGGTT	0.358																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(436-438)ctA>ctG		BMP2 inducible kinase							102.0	105.0	104.0					4																	79763573		2203	4300	6503	SO:0001819	synonymous_variant	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79763573A>G	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.438A>G	4.37:g.79763573A>G						BMP2K_ENST00000502871.1_Silent_p.L146L	p.L146L	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			4	604	+			146			Protein kinase.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Silent	SNP	ENST00000335016.5	37	c.438A>G	CCDS47083.1																																																																																				0.358	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		5	41	0	0	0	1	0	5	41				
SVEP1	79987	broad.mit.edu	37	9	113245866	113245866	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:113245866C>T	ENST00000401783.2	-	10	2374	c.2038G>A	c.(2038-2040)Ggg>Agg	p.G680R	SVEP1_ENST00000374469.1_Splice_Site_p.G657R|SVEP1_ENST00000374461.1_Splice_Site_p.G657R|SVEP1_ENST00000302728.8_Splice_Site_p.G680R|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	680	HYR 2. {ECO:0000255|PROSITE- ProRule:PRU00113}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GTCACCTCACCTGAGTTGTCT	0.433																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.e10+1		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							66.0	61.0	63.0					9																	113245866		1952	4161	6113	SO:0001630	splice_region_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113245866C>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.2038+1G>A	9.37:g.113245866C>T						SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Splice_Site_p.G680_splice|SVEP1_ENST00000374461.1_Splice_Site_p.G657_splice|SVEP1_ENST00000374469.1_Splice_Site_p.G657_splice	p.G680_splice	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			10	2374	-			680			HYR 2.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Splice_Site	SNP	ENST00000401783.2	37	c.2038_splice	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061182	0.55432	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.31	3.42	0.39159	Hyalin (2);	0.049645	0.85682	D	0.000000	T	0.52058	0.1711	M	0.71206	2.165	0.41211	D	0.986449	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.992	T	0.51395	-0.8711	9	.	.	.	.	12.441	0.55625	0.1335:0.7382:0.1282:0.0	.	680;680;680	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	R	680;657;680;657	ENSP00000384917:G680R;ENSP00000363593:G657R;ENSP00000304118:G680R;ENSP00000363585:G657R	.	G	-	1	0	SVEP1	112285687	1.000000	0.71417	0.941000	0.38009	0.698000	0.40448	7.252000	0.78309	0.698000	0.31739	0.591000	0.81541	GGG		0.433	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			Missense_Mutation	5	20	0	0	0	1	0	5	20				
KHSRP	8570	broad.mit.edu	37	19	6416879	6416879	+	Silent	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:6416879A>C	ENST00000398148.3	-	13	1289	c.1197T>G	c.(1195-1197)ggT>ggG	p.G399G	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	399	Gly-rich.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						CCCCTGGAGGACCTGGGGGAC	0.667																																					Colon(55;593 1006 2067 9135 22980)	ENST00000398148.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						c.(1195-1197)ggT>ggG		KH-type splicing regulatory protein							18.0	21.0	20.0					19																	6416879		1925	4112	6037	SO:0001819	synonymous_variant	8570				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	g.chr19:6416879A>C	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1197T>G	19.37:g.6416879A>C							p.G399G	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN			13	1289	-			399			Gly-rich.		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Silent	SNP	ENST00000398148.3	37	c.1197T>G	CCDS45936.1																																																																																				0.667	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1			8	34	0	0	0	1	0	8	34				
GZMH	2999	broad.mit.edu	37	14	25076387	25076387	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:25076387C>T	ENST00000216338.4	-	4	609	c.565G>A	c.(565-567)Ggg>Agg	p.G189R	RP11-104E19.1_ENST00000555300.1_RNA|RP11-104E19.1_ENST00000557736.1_RNA|GZMH_ENST00000557220.2_Intron|GZMH_ENST00000382548.4_Intron	NM_033423.4	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	189	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)	membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		TTTGGATCCCCCACACAAATC	0.522																																						ENST00000216338.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12						c.(565-567)Ggg>Agg		granzyme H (cathepsin G-like 2, protein h-CCPX)							203.0	202.0	202.0					14																	25076387		2203	4300	6503	SO:0001583	missense	2999				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity	g.chr14:25076387C>T	M72150	CCDS9632.1, CCDS59243.1	14q11.2	2003-10-20			ENSG00000100450	ENSG00000100450			4710	protein-coding gene	gene with protein product		116831		CTSGL2		2049336	Standard	NM_033423		Approved	CGL-2, CCP-X, CTLA1, CSP-C	uc001wpr.2	P20718	OTTHUMG00000140185	ENST00000216338.4:c.565G>A	14.37:g.25076387C>T	ENSP00000216338:p.Gly189Arg					GZMH_ENST00000557220.2_Intron|RP11-104E19.1_ENST00000557736.1_RNA|GZMH_ENST00000382548.4_Intron|RP11-104E19.1_ENST00000555300.1_RNA	p.G189R	NM_033423.3	NP_219491.1	P20718	GRAH_HUMAN		GBM - Glioblastoma multiforme(265;0.0267)	4	609	-			189			Peptidase S1.		G3V2C5|Q6XGZ0|Q6XGZ1	Missense_Mutation	SNP	ENST00000216338.4	37	c.565G>A	CCDS9632.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.262668	0.80358	.	.	ENSG00000100450	ENST00000216338	D	0.90788	-2.73	4.74	4.74	0.60224	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.93979	0.8072	M	0.64080	1.96	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94251	0.7493	9	0.87932	D	0	.	13.9528	0.64129	0.0:1.0:0.0:0.0	.	189	P20718	GRAH_HUMAN	R	189	ENSP00000216338:G189R	ENSP00000216338:G189R	G	-	1	0	GZMH	24146227	0.020000	0.18652	0.686000	0.30086	0.353000	0.29299	2.598000	0.46223	2.573000	0.86826	0.655000	0.94253	GGG		0.522	GZMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276538.2	NM_033423		14	287	0	0	0	1	0	14	287				
VN1R4	317703	broad.mit.edu	37	19	53770278	53770278	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:53770278T>A	ENST00000311170.4	-	1	694	c.641A>T	c.(640-642)cAg>cTg	p.Q214L	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	214					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		ATCAATGTGCTGGACCCGCTG	0.532										HNSCC(26;0.072)																												ENST00000311170.4																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22						c.(640-642)cAg>cTg		vomeronasal 1 receptor 4							52.0	48.0	50.0					19																	53770278		2203	4300	6503	SO:0001583	missense	317703				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53770278T>A	AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.641A>T	19.37:g.53770278T>A	ENSP00000310856:p.Gln214Leu	HNSCC(26;0.072)					p.Q214L	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN		GBM - Glioblastoma multiforme(134;0.00294)	1	694	-			214					Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	ENST00000311170.4	37	c.641A>T	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.553515	0.27739	.	.	ENSG00000228567	ENST00000311170	T	0.10668	2.85	2.28	-1.16	0.09678	GPCR, rhodopsin-like superfamily (1);	0.243014	0.21396	N	0.075239	T	0.17704	0.0425	M	0.64170	1.965	0.09310	N	1	P	0.37352	0.591	P	0.50352	0.638	T	0.14035	-1.0487	10	0.66056	D	0.02	.	6.5928	0.22656	0.0:0.4048:0.0:0.5952	.	214	Q7Z5H5	VN1R4_HUMAN	L	214	ENSP00000310856:Q214L	ENSP00000310856:Q214L	Q	-	2	0	VN1R4	58462090	0.004000	0.15560	0.000000	0.03702	0.006000	0.05464	0.280000	0.18790	-0.388000	0.07797	-0.491000	0.04670	CAG		0.532	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		8	21	0	0	0	1	0	8	21				
CCDC181	57821	broad.mit.edu	37	1	169391364	169391364	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:169391364T>A	ENST00000367806.3	-	3	457	c.305A>T	c.(304-306)aAc>aTc	p.N102I	CCDC181_ENST00000545005.1_Missense_Mutation_p.N102I|CCDC181_ENST00000367805.3_Missense_Mutation_p.N102I|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	102						nucleus (GO:0005634)											CTGGAAAGAGTTTTCACTATC	0.393																																						ENST00000545005.1																			0											c.(304-306)aAc>aTc		coiled-coil domain containing 181							55.0	53.0	54.0					1																	169391364		2203	4300	6503	SO:0001583	missense	57821							g.chr1:169391364T>A	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.305A>T	1.37:g.169391364T>A	ENSP00000356780:p.Asn102Ile					CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Missense_Mutation_p.N102I|CCDC181_ENST00000367806.3_Missense_Mutation_p.N102I	p.N102I							4	812	-								O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37	c.305A>T		.	.	.	.	.	.	.	.	.	.	T	15.06	2.720387	0.48728	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.24723	1.86;1.87;1.86;1.84	5.06	3.93	0.45458	.	0.478916	0.25096	N	0.033175	T	0.28764	0.0713	M	0.68317	2.08	0.28376	N	0.919766	P;D;D	0.67145	0.899;0.996;0.996	P;D;D	0.66497	0.667;0.944;0.924	T	0.18147	-1.0346	9	0.49607	T	0.09	-8.7455	7.1094	0.25382	0.0:0.2305:0.0:0.7695	.	102;102;102	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	I	102	ENSP00000356779:N102I;ENSP00000356780:N102I;ENSP00000442297:N102I;ENSP00000411000:N102I	ENSP00000356779:N102I	N	-	2	0	C1orf114	167657988	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	2.494000	0.45329	0.780000	0.33566	0.383000	0.25322	AAC		0.393	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		8	57	0	0	0	1	0	8	57				
GPR137	56834	broad.mit.edu	37	11	64054205	64054205	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:64054205C>A	ENST00000313074.3	+	1	314	c.209C>A	c.(208-210)gCc>gAc	p.A70D	BAD_ENST00000544785.1_5'Flank|GPR137_ENST00000438980.2_Missense_Mutation_p.A70D|GPR137_ENST00000539851.1_Missense_Mutation_p.A70D|GPR137_ENST00000377702.4_Missense_Mutation_p.A70D|BAD_ENST00000394532.3_5'Flank|BAD_ENST00000309032.3_5'Flank|GPR137_ENST00000411458.1_Missense_Mutation_p.A128D|BAD_ENST00000394531.3_5'Flank	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	70						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CTGCTCTGGGCCGCCTTGCGT	0.612																																						ENST00000539851.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						c.(208-210)gCc>gAc		G protein-coupled receptor 137							158.0	157.0	158.0					11																	64054205		2201	4297	6498	SO:0001583	missense	56834					integral to membrane		g.chr11:64054205C>A	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"""GPCR / Unclassified : 7TM orphan receptors"""	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.209C>A	11.37:g.64054205C>A	ENSP00000321698:p.Ala70Asp					GPR137_ENST00000377702.4_Missense_Mutation_p.A70D|GPR137_ENST00000438980.2_Missense_Mutation_p.A70D|GPR137_ENST00000313074.3_Missense_Mutation_p.A70D|GPR137_ENST00000411458.1_Missense_Mutation_p.A128D	p.A70D	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN			2	676	+			70					B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Missense_Mutation	SNP	ENST00000313074.3	37	c.209C>A	CCDS8066.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890385	0.91889	.	.	ENSG00000173264	ENST00000546139;ENST00000411458;ENST00000539851;ENST00000539833;ENST00000377702;ENST00000535675;ENST00000543383;ENST00000538032;ENST00000540370;ENST00000540969;ENST00000438980;ENST00000313074;ENST00000542190;ENST00000541952	T;T;T;T;T;T;T;T;T;T;T	0.60171	1.88;0.21;0.32;1.88;1.88;1.88;1.88;0.29;0.25;1.88;1.88	4.33	4.33	0.51752	.	0.074020	0.52532	D	0.000076	T	0.67449	0.2894	L	0.43152	1.355	0.50039	D	0.999846	D;D;D;D;D;D;D	0.76494	0.989;0.998;0.978;0.999;0.989;0.998;0.998	P;D;P;D;P;D;P	0.69654	0.897;0.965;0.824;0.964;0.897;0.965;0.897	T	0.71199	-0.4663	10	0.87932	D	0	-9.4031	14.3463	0.66665	0.0:1.0:0.0:0.0	.	70;128;76;70;70;70;70	B7Z7M1;B4DTG7;F5H234;Q96N19-2;F5GXI8;Q96N19;Q96N19-3	.;.;.;.;.;G137A_HUMAN;.	D	76;128;70;70;70;70;70;70;70;70;70;70;70;70	ENSP00000445570:A76D;ENSP00000411827:A128D;ENSP00000442792:A70D;ENSP00000438716:A70D;ENSP00000446342:A70D;ENSP00000441003:A70D;ENSP00000445000:A70D;ENSP00000415698:A70D;ENSP00000321698:A70D;ENSP00000441034:A70D;ENSP00000442929:A70D	ENSP00000321698:A70D	A	+	2	0	GPR137	63810781	1.000000	0.71417	0.978000	0.43139	0.944000	0.59088	5.860000	0.69546	2.258000	0.74832	0.561000	0.74099	GCC		0.612	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155		39	215	1	0	2.05212e-20	1	3.18256e-20	39	215				
CDH12	1010	broad.mit.edu	37	5	21802442	21802442	+	Missense_Mutation	SNP	G	G	T	rs191030425		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:21802442G>T	ENST00000382254.1	-	10	2176	c.1090C>A	c.(1090-1092)Cct>Act	p.P364T	CDH12_ENST00000522262.1_Missense_Mutation_p.P324T|CDH12_ENST00000504376.2_Missense_Mutation_p.P364T|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	364	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTTTGAAAGGGCCCGCCGAG	0.498										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(1090-1092)Cct>Act		cadherin 12, type 2 (N-cadherin 2)							67.0	61.0	63.0					5																	21802442		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21802442G>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1090C>A	5.37:g.21802442G>T	ENSP00000371689:p.Pro364Thr	HNSCC(59;0.17)				CDH12_ENST00000504376.2_Missense_Mutation_p.P364T|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.P324T	p.P364T	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			10	2176	-			364			Cadherin 3.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.1090C>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320880	0.41096	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.56275	0.47;0.47;0.47	5.95	5.95	0.96441	Cadherin (4);Cadherin-like (1);	0.049554	0.85682	D	0.000000	T	0.63780	0.2540	M	0.71920	2.185	0.58432	D	0.999993	B;P	0.37330	0.075;0.59	P;B	0.44673	0.457;0.42	T	0.59627	-0.7419	10	0.37606	T	0.19	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	324;364	B7Z2U6;P55289	.;CAD12_HUMAN	T	364;364;324	ENSP00000423577:P364T;ENSP00000371689:P364T;ENSP00000428786:P324T	ENSP00000371689:P364T	P	-	1	0	CDH12	21838199	1.000000	0.71417	0.879000	0.34478	0.036000	0.12997	7.026000	0.76455	2.824000	0.97209	0.655000	0.94253	CCT		0.498	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		7	47	1	0	0.0381472	1	0.0391651	7	47				
OR2T12	127064	broad.mit.edu	37	1	248458275	248458275	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:248458275C>T	ENST00000317996.1	-	1	605	c.606G>A	c.(604-606)gtG>gtA	p.V202V		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GGAGCATTAACACACAGCAGA	0.542																																						ENST00000317996.1																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(604-606)gtG>gtA		olfactory receptor, family 2, subfamily T, member 12							50.0	41.0	44.0					1																	248458275		2202	4296	6498	SO:0001819	synonymous_variant	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458275C>T	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.606G>A	1.37:g.248458275C>T							p.V202V	NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	605	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		202						Silent	SNP	ENST00000317996.1	37	c.606G>A	CCDS31110.1																																																																																				0.542	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		10	97	0	0	0	1	0	10	97				
OR4D6	219983	broad.mit.edu	37	11	59224983	59224983	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:59224983G>T	ENST00000300127.2	+	1	573	c.550G>T	c.(550-552)Gtg>Ttg	p.V184L		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TGTGCTCCAGGTGGTAAAACT	0.512																																						ENST00000300127.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						c.(550-552)Gtg>Ttg		olfactory receptor, family 4, subfamily D, member 6							199.0	171.0	180.0					11																	59224983		2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59224983G>T	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.550G>T	11.37:g.59224983G>T	ENSP00000300127:p.Val184Leu						p.V184L	NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN			1	573	+			184					B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.550G>T	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	G	8.735	0.917541	0.17982	.	.	ENSG00000166884	ENST00000300127	T	0.00099	8.73	6.0	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.135633	0.33161	N	0.005202	T	0.00109	0.0003	N	0.12471	0.22	0.24000	N	0.99621	B	0.24317	0.101	B	0.30495	0.116	T	0.14090	-1.0485	10	0.02654	T	1	-8.3142	10.8721	0.46889	0.0:0.1416:0.7113:0.1471	.	184	Q8NGJ1	OR4D6_HUMAN	L	184	ENSP00000300127:V184L	ENSP00000300127:V184L	V	+	1	0	OR4D6	58981559	0.001000	0.12720	0.967000	0.41034	0.410000	0.31052	-0.087000	0.11215	1.505000	0.48720	0.650000	0.86243	GTG		0.512	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		18	135	1	0	9.16793e-09	1	1.24709e-08	18	135				
TAF5L	27097	broad.mit.edu	37	1	229738406	229738406	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:229738406C>G	ENST00000366676.1	-	3	507	c.508G>C	c.(508-510)Gac>Cac	p.D170H	TAF5L_ENST00000366675.3_Missense_Mutation_p.D170H|TAF5L_ENST00000258281.2_Missense_Mutation_p.D170H			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	170					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TTGTAGCTGTCTTCTTGGAGA	0.468																																						ENST00000366675.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11						c.(508-510)Gac>Cac		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							209.0	199.0	202.0					1																	229738406		2203	4300	6503	SO:0001583	missense	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229738406C>G	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.508G>C	1.37:g.229738406C>G	ENSP00000355636:p.Asp170His					TAF5L_ENST00000366676.1_Missense_Mutation_p.D170H|TAF5L_ENST00000258281.2_Missense_Mutation_p.D170H	p.D170H	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN			4	596	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	170					Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	ENST00000366676.1	37	c.508G>C	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340684	0.81911	.	.	ENSG00000135801	ENST00000366676;ENST00000258281;ENST00000366675	T;T;T	0.59502	0.26;0.26;0.86	5.69	5.69	0.88448	TFIID subunit, WD40-associated region (1);	0.146176	0.64402	D	0.000008	T	0.64068	0.2565	L	0.29908	0.895	0.46927	D	0.999255	D;D	0.67145	0.996;0.991	P;P	0.60345	0.821;0.873	T	0.59867	-0.7373	9	.	.	.	-39.1041	19.809	0.96540	0.0:1.0:0.0:0.0	.	170;170	O75529-2;O75529	.;TAF5L_HUMAN	H	170	ENSP00000355636:D170H;ENSP00000258281:D170H;ENSP00000355635:D170H	.	D	-	1	0	TAF5L	227805029	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.836000	0.62789	2.681000	0.91329	0.650000	0.86243	GAC		0.468	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		8	130	0	0	0	1	0	8	130				
GREB1	9687	broad.mit.edu	37	2	11718489	11718489	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:11718489C>T	ENST00000381486.2	+	6	1004	c.704C>T	c.(703-705)aCg>aTg	p.T235M	GREB1_ENST00000234142.5_Missense_Mutation_p.T235M|GREB1_ENST00000381483.2_Missense_Mutation_p.T235M|GREB1_ENST00000263834.5_Missense_Mutation_p.T235M|GREB1_ENST00000389825.3_Missense_Mutation_p.T125M	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	235						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTGGAGAGCACGGCTGCCTTC	0.602																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(703-705)aCg>aTg		growth regulation by estrogen in breast cancer 1							99.0	97.0	98.0					2																	11718489		2203	4300	6503	SO:0001583	missense	9687					integral to membrane		g.chr2:11718489C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.704C>T	2.37:g.11718489C>T	ENSP00000370896:p.Thr235Met					GREB1_ENST00000381483.2_Missense_Mutation_p.T235M|GREB1_ENST00000263834.5_Missense_Mutation_p.T235M|GREB1_ENST00000389825.3_Missense_Mutation_p.T125M|GREB1_ENST00000234142.5_Missense_Mutation_p.T235M	p.T235M	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	6	1004	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		235					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.704C>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268946	0.23221	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000389825;ENST00000381483;ENST00000234142	T;T;T;T;T	0.46451	3.22;2.21;0.87;2.22;3.22	5.71	4.84	0.62591	.	0.640159	0.15330	N	0.268079	T	0.39835	0.1093	L	0.27053	0.805	0.09310	N	1	P;P;P;B	0.47545	0.897;0.839;0.653;0.128	P;B;B;B	0.48063	0.565;0.309;0.251;0.006	T	0.26360	-1.0105	10	0.72032	D	0.01	-15.408	13.3009	0.60324	0.0:0.9268:0.0:0.0732	.	235;125;235;235	Q4ZG55-2;F8W6E5;Q4ZG55-3;Q4ZG55	.;.;.;GREB1_HUMAN	M	235;235;125;235;235	ENSP00000370896:T235M;ENSP00000263834:T235M;ENSP00000374475:T125M;ENSP00000370892:T235M;ENSP00000234142:T235M	ENSP00000234142:T235M	T	+	2	0	GREB1	11635940	0.084000	0.21492	0.006000	0.13384	0.011000	0.07611	2.483000	0.45233	1.431000	0.47355	-0.126000	0.14955	ACG		0.602	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		12	100	0	0	0	1	0	12	100				
AIPL1	23746	broad.mit.edu	37	17	6329146	6329146	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:6329146G>A	ENST00000381129.3	-	6	869	c.789C>T	c.(787-789)atC>atT	p.I263I	AIPL1_ENST00000576776.1_Silent_p.I239I|AIPL1_ENST00000576307.1_Silent_p.I203I|AIPL1_ENST00000574506.1_Silent_p.I251I|AIPL1_ENST00000575265.1_3'UTR|AIPL1_ENST00000570466.1_Silent_p.I241I|AIPL1_ENST00000250087.5_Silent_p.I200I	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	263					negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		AGGCCTTCACGATGCCTGTGG	0.657																																						ENST00000381129.3																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12						c.(787-789)atC>atT		aryl hydrocarbon receptor interacting protein-like 1							23.0	23.0	23.0					17																	6329146		2200	4299	6499	SO:0001819	synonymous_variant	23746				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding	g.chr17:6329146G>A	AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"""aryl hydrocarbon receptor-interacting protein-like 1"""	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.789C>T	17.37:g.6329146G>A						AIPL1_ENST00000576776.1_Silent_p.I239I|AIPL1_ENST00000576307.1_Silent_p.I203I|AIPL1_ENST00000575265.1_3'UTR|AIPL1_ENST00000574506.1_Silent_p.I251I|AIPL1_ENST00000250087.5_Silent_p.I200I|AIPL1_ENST00000570466.1_Silent_p.I241I	p.I263I	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	6	869	-			263					D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Silent	SNP	ENST00000381129.3	37	c.789C>T	CCDS11075.1																																																																																				0.657	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	NM_014336		9	16	0	0	0	1	0	9	16				
CSMD3	114788	broad.mit.edu	37	8	113299424	113299424	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:113299424C>T	ENST00000297405.5	-	58	9444	c.9200G>A	c.(9199-9201)aGa>aAa	p.R3067K	CSMD3_ENST00000352409.3_Missense_Mutation_p.R2997K|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2898K|CSMD3_ENST00000343508.3_Missense_Mutation_p.R3027K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3067	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCTTTCCTGTCTAGAGCCATG	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(9199-9201)aGa>aAa		CUB and Sushi multiple domains 3							143.0	125.0	131.0					8																	113299424		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113299424C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9200G>A	8.37:g.113299424C>T	ENSP00000297405:p.Arg3067Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.R3027K|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2898K|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2997K	p.R3067K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			58	9444	-			3067			Sushi 22.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9200G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122361	0.94429	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.26	5.26	0.73747	Complement control module (2);Sushi/SCR/CCP (3);	0.123227	0.51477	D	0.000093	T	0.32194	0.0821	L	0.46157	1.445	0.53688	D	0.999973	B;B;P	0.36125	0.342;0.008;0.538	B;B;B	0.42495	0.237;0.1;0.389	T	0.02104	-1.1213	10	0.28530	T	0.3	.	19.229	0.93829	0.0:1.0:0.0:0.0	.	2898;3067;3027	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	3027;3067;2337;2898;2997	ENSP00000345799:R3027K;ENSP00000297405:R3067K;ENSP00000341558:R2337K;ENSP00000412263:R2898K;ENSP00000343124:R2997K	ENSP00000297405:R3067K	R	-	2	0	CSMD3	113368600	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	7.583000	0.82559	2.618000	0.88619	0.650000	0.86243	AGA		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		12	101	0	0	0	1	0	12	101				
MGAM	8972	broad.mit.edu	37	7	141740523	141740523	+	Splice_Site	SNP	G	G	C	rs538201085		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:141740523G>C	ENST00000549489.2	+	21	2470	c.2375G>C	c.(2374-2376)gGg>gCg	p.G792A	MGAM_ENST00000475668.2_Splice_Site_p.G792A	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	792	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGCATCAGGGGAGCCAAGTG	0.473																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.e21-1		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						88.0	90.0	89.0					7																	141740523		1989	4178	6167	SO:0001630	splice_region_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141740523G>C	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2374-1G>C	7.37:g.141740523G>C						MGAM_ENST00000549489.2_Splice_Site_p.G792_splice	p.G792_splice			O43451	MGA_HUMAN			21	2429	+	Melanoma(164;0.0272)		792			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Splice_Site	SNP	ENST00000549489.2	37	c.2373_splice	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296263	0.40594	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.92299	-3.01	5.27	4.33	0.51752	.	0.000000	0.47093	D	0.000254	D	0.95313	0.8479	M	0.88181	2.935	0.34409	D	0.6962	P	0.47302	0.893	P	0.54856	0.762	D	0.98925	1.0785	10	0.66056	D	0.02	.	13.5659	0.61817	0.0:0.0:0.8435:0.1565	.	792	O43451	MGA_HUMAN	A	792;792;669	ENSP00000447378:G792A	ENSP00000316431:G669A	G	+	2	0	MGAM	141386992	1.000000	0.71417	0.910000	0.35882	0.010000	0.07245	5.042000	0.64202	2.478000	0.83669	0.585000	0.79938	GGG		0.473	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		Missense_Mutation	5	26	0	0	0	1	0	5	26				
KIFAP3	22920	broad.mit.edu	37	1	170015866	170015866	+	Silent	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:170015866T>A	ENST00000361580.2	-	3	533	c.306A>T	c.(304-306)tcA>tcT	p.S102S	KIFAP3_ENST00000367765.1_Silent_p.S62S|KIFAP3_ENST00000367767.1_Silent_p.S58S|KIFAP3_ENST00000538366.1_5'UTR|KIFAP3_ENST00000490550.1_5'UTR	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	102					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCCTGACAATGAATCACGGC	0.368																																						ENST00000367765.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(184-186)tcA>tcT		kinesin-associated protein 3							134.0	128.0	130.0					1																	170015866		2203	4300	6503	SO:0001819	synonymous_variant	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:170015866T>A	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.306A>T	1.37:g.170015866T>A						KIFAP3_ENST00000367767.1_Silent_p.S58S|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000538366.1_5'UTR|KIFAP3_ENST00000361580.2_Silent_p.S102S	p.S62S	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN			3	1687	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		102					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Silent	SNP	ENST00000361580.2	37	c.186A>T	CCDS1288.1																																																																																				0.368	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		24	79	0	0	0	1	0	24	79				
TDRD6	221400	broad.mit.edu	37	6	46661594	46661594	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:46661594C>A	ENST00000316081.6	+	1	5729	c.5729C>A	c.(5728-5730)cCt>cAt	p.P1910H	TDRD6_ENST00000544460.1_Missense_Mutation_p.P1910H	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1910					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CTAGAACTACCTACAGCCCAG	0.473																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(5728-5730)cCt>cAt		tudor domain containing 6							91.0	90.0	91.0					6																	46661594		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46661594C>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.5729C>A	6.37:g.46661594C>A	ENSP00000346065:p.Pro1910His					TDRD6_ENST00000316081.6_Missense_Mutation_p.P1910H	p.P1910H	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	5983	+			1910					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.5729C>A	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489267	0.44249	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.15372	2.43;2.43	5.57	2.66	0.31614	.	0.233607	0.30556	N	0.009368	T	0.16599	0.0399	L	0.56769	1.78	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.956	T	0.05435	-1.0885	10	0.72032	D	0.01	-14.9082	3.7934	0.08730	0.1704:0.5654:0.0:0.2642	.	1910;1910	F5H5M3;O60522	.;TDRD6_HUMAN	H	1910	ENSP00000443299:P1910H;ENSP00000346065:P1910H	ENSP00000346065:P1910H	P	+	2	0	TDRD6	46769553	0.002000	0.14202	0.012000	0.15200	0.029000	0.11900	1.316000	0.33620	0.705000	0.31890	0.563000	0.77884	CCT		0.473	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		10	79	1	0	1	1	1	10	79				
SERBP1	26135	broad.mit.edu	37	1	67880878	67880878	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:67880878G>A	ENST00000370995.2	-	7	1226	c.1141C>T	c.(1141-1143)Cgc>Tgc	p.R381C	SERBP1_ENST00000361219.6_Missense_Mutation_p.R366C|SERBP1_ENST00000370994.4_Missense_Mutation_p.R360C|RNU6-387P_ENST00000411331.1_RNA|SERBP1_ENST00000370990.5_Missense_Mutation_p.R375C			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	381					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CGGTTTGGGCGCCCACCACGC	0.517																																						ENST00000370994.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						c.(1078-1080)Cgc>Tgc		SERPINE1 mRNA binding protein 1							47.0	50.0	49.0					1																	67880878		2203	4299	6502	SO:0001583	missense	26135				regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding	g.chr1:67880878G>A	AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.1141C>T	1.37:g.67880878G>A	ENSP00000360034:p.Arg381Cys					SERBP1_ENST00000361219.6_Missense_Mutation_p.R366C|SERBP1_ENST00000370990.5_Missense_Mutation_p.R375C|SERBP1_ENST00000370995.2_Missense_Mutation_p.R381C	p.R360C	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN			7	1192	-			381					Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Missense_Mutation	SNP	ENST00000370995.2	37	c.1078C>T	CCDS30746.1	.	.	.	.	.	.	.	.	.	.	G	16.01	2.999918	0.54147	.	.	ENSG00000142864	ENST00000370994;ENST00000370995;ENST00000361219;ENST00000370990	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.68458	0.3003	M	0.78049	2.395	0.80722	D	1	D;D;B;B	0.76494	0.993;0.999;0.009;0.035	B;P;B;B	0.56823	0.446;0.807;0.006;0.004	T	0.72418	-0.4300	9	0.59425	D	0.04	-3.2908	12.7653	0.57388	0.0:0.0:0.7288:0.2712	.	423;438;366;381	D3DQ69;D3DQ70;Q8NC51-3;Q8NC51	.;.;.;PAIRB_HUMAN	C	360;381;366;375	.	ENSP00000354591:R366C	R	-	1	0	SERBP1	67653466	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.785000	0.47782	2.724000	0.93272	0.650000	0.86243	CGC		0.517	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025984.2	NM_001018067		12	87	0	0	0	1	0	12	87				
C15orf53	400359	broad.mit.edu	37	15	38990415	38990415	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:38990415G>T	ENST00000318792.1	+	2	219	c.209G>T	c.(208-210)gGa>gTa	p.G70V		NM_207444.2	NP_997327.1	Q8NAA6	CO053_HUMAN	chromosome 15 open reading frame 53	70										endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		tggaatctgggAGAAGATGCT	0.493																																						ENST00000318792.1																			0				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6						c.(208-210)gGa>gTa		chromosome 15 open reading frame 53							63.0	61.0	62.0					15																	38990415		2200	4297	6497	SO:0001583	missense	400359							g.chr15:38990415G>T		CCDS10048.1	15q14	2007-11-21			ENSG00000175779	ENSG00000175779			33796	protein-coding gene	gene with protein product							Standard	NM_207444		Approved	FLJ35695	uc001zkf.1	Q8NAA6	OTTHUMG00000129841	ENST00000318792.1:c.209G>T	15.37:g.38990415G>T	ENSP00000325144:p.Gly70Val						p.G70V	NM_207444.2	NP_997327.1	Q8NAA6	CO053_HUMAN		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)	2	219	+		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)	70						Missense_Mutation	SNP	ENST00000318792.1	37	c.209G>T	CCDS10048.1	.	.	.	.	.	.	.	.	.	.	G	0.710	-0.787675	0.02884	.	.	ENSG00000175779	ENST00000318792	T	0.35605	1.3	1.74	-0.426	0.12314	.	.	.	.	.	T	0.16471	0.0396	N	0.08118	0	0.09310	N	1	B	0.20671	0.047	B	0.22753	0.041	T	0.22730	-1.0208	9	0.87932	D	0	.	2.8486	0.05551	0.2019:0.3015:0.4967:0.0	.	70	Q8NAA6	CO053_HUMAN	V	70	ENSP00000325144:G70V	ENSP00000325144:G70V	G	+	2	0	C15orf53	36777707	0.046000	0.20272	0.000000	0.03702	0.004000	0.04260	0.504000	0.22626	-0.102000	0.12197	0.313000	0.20887	GGA		0.493	C15orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252081.1	NM_207444		7	49	1	0	8.12818e-05	1	9.40913e-05	7	49				
PROX1	5629	broad.mit.edu	37	1	214209100	214209100	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:214209100G>T	ENST00000366958.4	+	5	2745	c.2137G>T	c.(2137-2139)Gtc>Ttc	p.V713F	PROX1_ENST00000261454.4_Missense_Mutation_p.V713F|PROX1_ENST00000498508.2_Missense_Mutation_p.V713F|PROX1_ENST00000435016.1_Missense_Mutation_p.V713F	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	713	Prospero-like.				aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CATATACAAGGTCATCTGCAA	0.428																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(2137-2139)Gtc>Ttc		prospero homeobox 1							96.0	87.0	90.0					1																	214209100		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214209100G>T	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.2137G>T	1.37:g.214209100G>T	ENSP00000355925:p.Val713Phe					PROX1_ENST00000261454.4_Missense_Mutation_p.V713F|PROX1_ENST00000498508.2_Missense_Mutation_p.V713F|PROX1_ENST00000435016.1_Missense_Mutation_p.V713F	p.V713F	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	5	2745	+			713			Prospero-like.		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.2137G>T	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230696	0.79688	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T	0.55413	0.52;0.52;0.52	5.41	5.41	0.78517	Homeo-prospero domain (1);Homeodomain-like (1);	.	.	.	.	T	0.73521	0.3597	M	0.76838	2.35	0.80722	D	1	D	0.69078	0.997	D	0.65987	0.94	T	0.76777	-0.2834	9	0.72032	D	0.01	-5.2736	19.1966	0.93691	0.0:0.0:1.0:0.0	.	713	Q92786	PROX1_HUMAN	F	285;713;713;713;713	ENSP00000420283:V713F;ENSP00000400694:V713F;ENSP00000261454:V713F	ENSP00000261454:V713F	V	+	1	0	PROX1	212275723	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.532000	0.85374	0.563000	0.77884	GTC		0.428	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		15	37	1	0	1.3612e-06	1	1.71317e-06	15	37				
CNTNAP4	85445	broad.mit.edu	37	16	76486632	76486632	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:76486632C>A	ENST00000476707.1	+	7	1447	c.1308C>A	c.(1306-1308)taC>taA	p.Y436*	CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.Y384*|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.Y360*|CNTNAP4_ENST00000307431.8_Nonsense_Mutation_p.Y432*|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	433	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CGAATCTCTACCAGCCAGGAA	0.433																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(1294-1296)taC>taA		contactin associated protein-like 4							43.0	43.0	43.0					16																	76486632		2198	4300	6498	SO:0001587	stop_gained	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76486632C>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1308C>A	16.37:g.76486632C>A	ENSP00000417628:p.Tyr436*					CNTNAP4_ENST00000476707.1_Nonsense_Mutation_p.Y436*|CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.Y384*|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.Y360*	p.Y432*	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			9	1681	+			433			Laminin G-like 2.		E9PFZ6|Q86YZ7	Nonsense_Mutation	SNP	ENST00000476707.1	37	c.1296C>A		.	.	.	.	.	.	.	.	.	.	C	34	5.296510	0.95574	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	.	.	.	5.43	3.47	0.39725	.	1.414840	0.05049	N	0.477704	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.5419	0.04728	0.1367:0.5237:0.1324:0.2072	.	.	.	.	X	432;384;360;436	.	ENSP00000306893:Y432X	Y	+	3	2	CNTNAP4	75044133	0.184000	0.23200	0.871000	0.34182	0.991000	0.79684	0.517000	0.22832	0.840000	0.34995	0.655000	0.94253	TAC		0.433	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		6	27	1	0	0.00116845	1	0.00129152	6	27				
SLIT1	6585	broad.mit.edu	37	10	98762651	98762651	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:98762651C>T	ENST00000266058.4	-	35	4209	c.3964G>A	c.(3964-3966)Gag>Aag	p.E1322K	SLIT1_ENST00000371070.4_Missense_Mutation_p.E1322K|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1322	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCCTGCAGCTCGTTGTTGATG	0.602																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(3964-3966)Gag>Aag		slit homolog 1 (Drosophila)							171.0	167.0	168.0					10																	98762651		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98762651C>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3964G>A	10.37:g.98762651C>T	ENSP00000266058:p.Glu1322Lys					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.E1322K	p.E1322K	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	35	4209	-		Colorectal(252;0.162)	1322			Laminin G-like.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.3964G>A	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522208	0.85600	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	T;T	0.77620	-1.11;-1.11	4.75	4.75	0.60458	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.80423	0.4620	N	0.25332	0.735	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75750	-0.3208	10	0.16896	T	0.51	.	17.5336	0.87820	0.0:1.0:0.0:0.0	.	1322	O75093	SLIT1_HUMAN	K	1322	ENSP00000266058:E1322K;ENSP00000360109:E1322K	ENSP00000266058:E1322K	E	-	1	0	SLIT1	98752641	1.000000	0.71417	0.953000	0.39169	0.959000	0.62525	7.631000	0.83237	2.465000	0.83290	0.561000	0.74099	GAG		0.602	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		10	162	0	0	0	1	0	10	162				
NNT	23530	broad.mit.edu	37	5	43704470	43704470	+	Silent	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:43704470G>C	ENST00000264663.5	+	22	3446	c.3225G>C	c.(3223-3225)gcG>gcC	p.A1075A	NNT_ENST00000344920.4_Silent_p.A1075A|NNT_ENST00000512996.2_Silent_p.A944A	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	1075					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CATGTGACGCGCTCCAGGCGA	0.438																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3223-3225)gcG>gcC		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						123.0	108.0	113.0					5																	43704470		2203	4299	6502	SO:0001819	synonymous_variant	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43704470G>C	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.3225G>C	5.37:g.43704470G>C						NNT_ENST00000344920.4_Silent_p.A1075A|NNT_ENST00000512996.2_Silent_p.A944A	p.A1075A	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			22	3446	+	Lung NSC(6;2.58e-06)		1075					Q16796|Q2TB60|Q8N3V4	Silent	SNP	ENST00000264663.5	37	c.3225G>C	CCDS3949.1																																																																																				0.438	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		13	97	0	0	0	1	0	13	97				
DCAF12L1	139170	broad.mit.edu	37	X	125685408	125685408	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:125685408G>A	ENST00000371126.1	-	1	1426	c.1184C>T	c.(1183-1185)tCg>tTg	p.S395L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	395										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TGCAGGTCCCGAAGAGGACTC	0.572																																						ENST00000371126.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1183-1185)tCg>tTg		DDB1 and CUL4 associated factor 12-like 1							63.0	63.0	63.0					X																	125685408		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125685408G>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1184C>T	X.37:g.125685408G>A	ENSP00000360167:p.Ser395Leu						p.S395L	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	1426	-			395					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.1184C>T	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	G	1.711	-0.499156	0.04291	.	.	ENSG00000198889	ENST00000371126	T	0.16897	2.31	3.78	-1.2	0.09554	.	0.559552	0.13744	N	0.365780	T	0.03651	0.0104	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41342	-0.9514	10	0.10636	T	0.68	.	4.1805	0.10372	0.4489:0.1743:0.3767:0.0	.	395	Q5VU92	DC121_HUMAN	L	395	ENSP00000360167:S395L	ENSP00000360167:S395L	S	-	2	0	DCAF12L1	125513089	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.406000	0.21032	-0.444000	0.07170	-0.305000	0.09177	TCG		0.572	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		10	46	0	0	0	1	0	10	46				
ADAMTS3	9508	broad.mit.edu	37	4	73186517	73186517	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:73186517T>A	ENST00000286657.4	-	7	1052	c.1016A>T	c.(1015-1017)cAg>cTg	p.Q339L	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	339	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGATCTTTGCTGTTGGGACGC	0.448																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1015-1017)cAg>cTg		ADAM metallopeptidase with thrombospondin type 1 motif, 3							194.0	180.0	185.0					4																	73186517		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73186517T>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1016A>T	4.37:g.73186517T>A	ENSP00000286657:p.Gln339Leu						p.Q339L	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		7	1052	-			339			Peptidase M12B.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.1016A>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.504453	0.44558	.	.	ENSG00000156140	ENST00000286657	D	0.85629	-2.01	6.07	6.07	0.98685	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000001	D	0.85750	0.5769	N	0.25426	0.745	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80500	-0.1355	10	0.02654	T	1	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	339	O15072	ATS3_HUMAN	L	339	ENSP00000286657:Q339L	ENSP00000286657:Q339L	Q	-	2	0	ADAMTS3	73405381	1.000000	0.71417	0.999000	0.59377	0.008000	0.06430	7.988000	0.88194	2.326000	0.78906	0.533000	0.62120	CAG		0.448	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			13	92	0	0	0	1	0	13	92				
GGN	199720	broad.mit.edu	37	19	38877111	38877111	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:38877111G>A	ENST00000334928.6	-	3	923	c.791C>T	c.(790-792)gCc>gTc	p.A264V	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron|SPRED3_ENST00000587013.1_5'Flank	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	264	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGAAGCTTTGGCTGCTAAGGA	0.642																																						ENST00000334928.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(790-792)gCc>gTc		gametogenetin							22.0	26.0	25.0					19																	38877111		1986	3958	5944	SO:0001583	missense	199720				cell differentiation|multicellular organismal development|spermatogenesis			g.chr19:38877111G>A	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.791C>T	19.37:g.38877111G>A	ENSP00000334940:p.Ala264Val					GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA	p.A264V	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	923	-	all_cancers(60;3.4e-06)		264			Interaction with GGNBP1 (By similarity).|Pro-rich.		Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	ENST00000334928.6	37	c.791C>T	CCDS12516.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636404	0.47049	.	.	ENSG00000179168	ENST00000334928	.	.	.	3.63	3.63	0.41609	.	0.215142	0.23606	N	0.046398	T	0.25975	0.0633	N	0.24115	0.695	0.26850	N	0.96818	P;P	0.40180	0.705;0.705	B;B	0.40864	0.342;0.342	T	0.10706	-1.0618	9	0.44086	T	0.13	-6.8797	10.6653	0.45726	0.0:0.0:1.0:0.0	.	181;264	Q86UU5-2;Q86UU5	.;GGN_HUMAN	V	264	.	ENSP00000334940:A264V	A	-	2	0	GGN	43568951	0.921000	0.31238	0.459000	0.27081	0.812000	0.45895	3.824000	0.55723	1.848000	0.53677	0.462000	0.41574	GCC		0.642	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657		18	62	0	0	0	1	0	18	62				
TRPC5	7224	broad.mit.edu	37	X	111090557	111090557	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:111090557G>T	ENST00000262839.2	-	6	2403	c.1485C>A	c.(1483-1485)tcC>tcA	p.S495S		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	495					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGTGAACAGGGATATGAGAC	0.483																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1483-1485)tcC>tcA		transient receptor potential cation channel, subfamily C, member 5							158.0	135.0	143.0					X																	111090557		2203	4300	6503	SO:0001819	synonymous_variant	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111090557G>T	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1485C>A	X.37:g.111090557G>T							p.S495S	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			6	2403	-			495					B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	ENST00000262839.2	37	c.1485C>A	CCDS14561.1																																																																																				0.483	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		20	45	1	0	7.41877e-09	1	1.01428e-08	20	45				
OVGP1	5016	broad.mit.edu	37	1	111957433	111957433	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:111957433G>T	ENST00000369732.3	-	11	1745	c.1690C>A	c.(1690-1692)Cct>Act	p.P564T		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	564					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.P564T(1)|p.P628T(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TTCCTTCTAGGGGCCACTGTA	0.522																																						ENST00000369732.3																			2	Substitution - Missense(2)	p.P564T(1)|p.P628T(1)	breast(2)	NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(1690-1692)Cct>Act		oviductal glycoprotein 1, 120kDa							109.0	117.0	115.0					1																	111957433		2203	4300	6503	SO:0001583	missense	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111957433G>T	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1690C>A	1.37:g.111957433G>T	ENSP00000358747:p.Pro564Thr						p.P564T	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	11	1745	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	564					A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	c.1690C>A	CCDS834.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148217	0.37923	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.03889	3.77	4.65	0.639	0.17747	.	17.794600	0.00166	N	0.000010	T	0.01558	0.0050	L	0.39898	1.24	0.09310	N	1	B;B	0.30439	0.035;0.279	B;B	0.27608	0.004;0.081	T	0.43163	-0.9408	10	0.66056	D	0.02	-1.4536	2.9607	0.05891	0.3106:0.0:0.4929:0.1965	.	564;628	Q12889;Q59HH5	OVGP1_HUMAN;.	T	564;628;372	ENSP00000358747:P564T	ENSP00000358743:P628T	P	-	1	0	OVGP1	111758956	0.007000	0.16637	0.000000	0.03702	0.399000	0.30720	0.327000	0.19663	0.255000	0.21593	0.585000	0.79938	CCT		0.522	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		12	109	1	0	2.27111e-07	1	2.94552e-07	12	109				
PCDHA8	56140	broad.mit.edu	37	5	140221704	140221704	+	Silent	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140221704T>C	ENST00000531613.1	+	1	798	c.798T>C	c.(796-798)gcT>gcC	p.A266A	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.A266A|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	266	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTGAATGCTTCTGATCCGG	0.388																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(796-798)gcT>gcC									66.0	67.0	67.0					5																	140221704		2203	4299	6502	SO:0001819	synonymous_variant	56140							g.chr5:140221704T>C	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.798T>C	5.37:g.140221704T>C						PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.A266A	p.A266A	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	798	+								B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.798T>C	CCDS54919.1																																																																																				0.388	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		15	46	0	0	0	1	0	15	46				
GBP5	115362	broad.mit.edu	37	1	89728399	89728399	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:89728399G>T	ENST00000370459.3	-	9	1559	c.1432C>A	c.(1432-1434)Cag>Aag	p.Q478K	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000471171.1_5'Flank|GBP5_ENST00000343435.5_Missense_Mutation_p.Q478K			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	478						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GTGAGAGCCTGGTCAGTCTGT	0.378																																						ENST00000343435.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(1432-1434)Cag>Aag		guanylate binding protein 5							82.0	83.0	82.0					1																	89728399		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89728399G>T	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.1432C>A	1.37:g.89728399G>T	ENSP00000359488:p.Gln478Lys					GBP5_ENST00000370459.3_Missense_Mutation_p.Q478K|GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA	p.Q478K	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	10	1968	-			478					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.1432C>A	CCDS722.1	.	.	.	.	.	.	.	.	.	.	G	9.155	1.017290	0.19355	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.52295	0.67;0.67;0.67	4.86	3.94	0.45596	Guanylate-binding protein, C-terminal (3);	0.718111	0.12889	N	0.430798	T	0.14442	0.0349	N	0.21282	0.65	0.23210	N	0.998112	B	0.19445	0.036	B	0.17979	0.02	T	0.17623	-1.0363	10	0.16420	T	0.52	-4.9469	11.5052	0.50461	0.0876:0.0:0.9124:0.0	.	478	Q96PP8	GBP5_HUMAN	K	478	ENSP00000340396:Q478K;ENSP00000359488:Q478K;ENSP00000403010:Q478K	ENSP00000340396:Q478K	Q	-	1	0	GBP5	89500987	0.015000	0.18098	0.989000	0.46669	0.240000	0.25518	0.091000	0.15046	1.439000	0.47511	0.644000	0.83932	CAG		0.378	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		10	37	1	0	2.68362e-12	1	3.94248e-12	10	37				
ZNF804B	219578	broad.mit.edu	37	7	88965939	88965939	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:88965939C>A	ENST00000333190.4	+	4	4252	c.3643C>A	c.(3643-3645)Cag>Aag	p.Q1215K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1215							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CACGTTCCTGCAGCATTTTGC	0.498										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(3643-3645)Cag>Aag		zinc finger protein 804B							194.0	162.0	173.0					7																	88965939		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965939C>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3643C>A	7.37:g.88965939C>A	ENSP00000329638:p.Gln1215Lys	HNSCC(36;0.09)					p.Q1215K	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	4252	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1215					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3643C>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456633	0.84317	.	.	ENSG00000182348	ENST00000333190	T	0.45668	0.89	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000016	T	0.67335	0.2882	M	0.77103	2.36	0.44485	D	0.997428	D	0.89917	1.0	D	0.83275	0.996	T	0.70842	-0.4762	10	0.72032	D	0.01	-12.2488	18.8132	0.92065	0.0:1.0:0.0:0.0	.	1215	A4D1E1	Z804B_HUMAN	K	1215	ENSP00000329638:Q1215K	ENSP00000329638:Q1215K	Q	+	1	0	ZNF804B	88803875	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.226000	0.65299	2.736000	0.93811	0.655000	0.94253	CAG		0.498	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		10	128	1	0	1.58986e-06	1	1.99164e-06	10	128				
CFAP69	79846	broad.mit.edu	37	7	89917652	89917652	+	Silent	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:89917652A>G	ENST00000389297.4	+	15	2012	c.1761A>G	c.(1759-1761)acA>acG	p.T587T	C7orf63_ENST00000497910.1_Silent_p.T569T|C7orf63_ENST00000316089.8_Silent_p.T587T	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		587										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TTTTTAGTACATTGGACAGCA	0.378																																						ENST00000389297.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						c.(1759-1761)acA>acG		chromosome 7 open reading frame 63							119.0	114.0	115.0					7																	89917652		1875	4108	5983	SO:0001819	synonymous_variant	79846						binding	g.chr7:89917652A>G																												ENST00000389297.4:c.1761A>G	7.37:g.89917652A>G						C7orf63_ENST00000497910.1_Silent_p.T569T|C7orf63_ENST00000316089.8_Silent_p.T587T	p.T587T	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN			15	2012	+			587					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Silent	SNP	ENST00000389297.4	37	c.1761A>G	CCDS43613.2																																																																																				0.378	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			22	77	0	0	0	1	0	22	77				
HYDIN	54768	broad.mit.edu	37	16	71101181	71101181	+	Intron	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:71101181G>T	ENST00000393567.2	-	15	2226				HYDIN_ENST00000288168.10_Missense_Mutation_p.P713Q|HYDIN_ENST00000541601.1_Intron|HYDIN_ENST00000448691.1_Intron|HYDIN_ENST00000543639.1_5'Flank|HYDIN_ENST00000393550.2_Intron|HYDIN_ENST00000321489.5_Intron|HYDIN_ENST00000448089.2_Intron|HYDIN_ENST00000538248.1_Intron	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein						cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGAGCAAGCTGGGGAGCAATA	0.587																																						ENST00000288168.10																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(2137-2139)cCa>cAa		HYDIN, axonemal central pair apparatus protein							44.0	38.0	40.0					16																	71101181		2197	4298	6495	SO:0001627	intron_variant	54768							g.chr16:71101181G>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.2075+11C>A	16.37:g.71101181G>T						HYDIN_ENST00000393550.2_Intron|HYDIN_ENST00000393567.2_Intron|HYDIN_ENST00000541601.1_Intron|HYDIN_ENST00000538248.1_Intron|HYDIN_ENST00000321489.5_Intron|HYDIN_ENST00000448691.1_Intron|HYDIN_ENST00000448089.2_Intron	p.P713Q			Q4G0P3	HYDIN_HUMAN			15	2151	-		Ovarian(137;0.0654)	696					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.2138C>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343586	0.41498	.	.	ENSG00000157423	ENST00000288168	T	0.49432	0.78	4.07	2.11	0.27256	.	.	.	.	.	T	0.62889	0.2465	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.49011	-0.8983	8	0.87932	D	0	.	6.4755	0.22033	0.2234:0.0:0.7766:0.0	.	713	F8WD03	.	Q	713	ENSP00000288168:P713Q	ENSP00000288168:P713Q	P	-	2	0	HYDIN	69658682	0.016000	0.18221	0.207000	0.23584	0.003000	0.03518	0.486000	0.22340	0.508000	0.28173	-0.311000	0.09066	CCA		0.587	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			5	25	1	0	0.000602214	1	0.000673014	5	25				
COQ10A	93058	broad.mit.edu	37	12	56663953	56663953	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:56663953C>G	ENST00000308197.5	+	5	857	c.596C>G	c.(595-597)tCt>tGt	p.S199C	COQ10A_ENST00000433805.2_Missense_Mutation_p.S167C|COQ10A_ENST00000546544.1_Missense_Mutation_p.S182C|RP11-977G19.14_ENST00000546464.1_RNA	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	199						mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						GAATTTCGTTCTCTGCTGCAC	0.483																																						ENST00000308197.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						c.(595-597)tCt>tGt		coenzyme Q10 homolog A (S. cerevisiae)							223.0	220.0	221.0					12																	56663953		1986	4160	6146	SO:0001583	missense	93058					mitochondrial inner membrane		g.chr12:56663953C>G	AK057003	CCDS41796.1, CCDS44921.1	12q13.3	2011-09-16	2006-04-04		ENSG00000135469	ENSG00000135469			26515	protein-coding gene	gene with protein product			"""coenzyme Q10 homolog A (yeast)"""				Standard	NM_144576		Approved	FLJ32452	uc001sko.4	Q96MF6	OTTHUMG00000170283	ENST00000308197.5:c.596C>G	12.37:g.56663953C>G	ENSP00000312587:p.Ser199Cys					COQ10A_ENST00000433805.2_Missense_Mutation_p.S167C|COQ10A_ENST00000546544.1_Missense_Mutation_p.S182C	p.S199C	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN			5	857	+			199					Q6GMR6|Q6UWB9|Q86X16|Q8TAL2|Q96MF1|Q9BUP4	Missense_Mutation	SNP	ENST00000308197.5	37	c.596C>G	CCDS41796.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.459386|4.459386	0.84317|0.84317	.|.	.|.	ENSG00000135469|ENSG00000135469	ENST00000553234;ENST00000551814|ENST00000308197;ENST00000433805;ENST00000546544	.|T;T;T	.|0.33654	.|1.4;1.49;1.44	4.96|4.96	4.96|4.96	0.65561|0.65561	.|START-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71986|0.71986	0.3405|0.3405	H|H	0.95470|0.95470	3.675|3.675	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	T|T	0.81064|0.81064	-0.1102|-0.1102	5|10	.|0.87932	.|D	.|0	.|.	17.5173|17.5173	0.87777|0.87777	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|182;204;199	.|Q96MF6-2;Q8TAL2;Q96MF6	.|.;.;CQ10A_HUMAN	V|C	105;16|199;167;182	.|ENSP00000312587:S199C;ENSP00000407843:S167C;ENSP00000446723:S182C	.|ENSP00000312587:S199C	L|S	+|+	1|2	0|0	COQ10A|COQ10A	54950220|54950220	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	7.340000|7.340000	0.79292|0.79292	2.746000|2.746000	0.94184|0.94184	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.483	COQ10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408332.1	NM_144576		15	165	0	0	0	1	0	15	165				
PTGES3L	100885848	broad.mit.edu	37	17	41131448	41131448	+	Missense_Mutation	SNP	C	C	T	rs147796875	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:41131448C>T	ENST00000453594.1	-	3	610	c.265G>A	c.(265-267)Gat>Aat	p.D89N	PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.D28N|PTGES3L_ENST00000409446.3_Missense_Mutation_p.D51N|PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.D89N|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.D89N|RP11-376M2.2_ENST00000587526.1_RNA|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.D28N|RUNDC1_ENST00000361677.1_5'Flank	NM_001142653.1|NM_001261430.1	NP_001136125.1|NP_001248359.1	E9PB15	PTG3L_HUMAN	prostaglandin E synthase 3 (cytosolic)-like	89	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.																TCCACTCCATCGGCATTCTTG	0.512																																						ENST00000421990.2																			0											c.(265-267)Gat>Aat				C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	279.0	280.0	280.0		265,265,151,82	5.0	0.9	17	dbSNP_134	280	3,8597	3.7+/-12.6	0,3,4297	yes	missense,missense,missense,missense	AARSD1	NM_001136042.2,NM_001142653.1,NM_001142654.1,NM_025267.3	23,23,23,23	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	89/587,89/167,51/162,28/526	41131448	3,13003	2203	4300	6503	SO:0001583	missense	100885850							g.chr17:41131448C>T		CCDS45692.1	17q21.31	2012-10-05				ENSG00000267060			43943	protein-coding gene	gene with protein product							Standard	NM_001142653		Approved			E9PB15	OTTHUMG00000180906	ENST00000453594.1:c.265G>A	17.37:g.41131448C>T	ENSP00000394415:p.Asp89Asn					PTGES3L_ENST00000453594.1_Missense_Mutation_p.D89N|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.D89N|PTGES3L_ENST00000409446.3_Missense_Mutation_p.D51N|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.D28N|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.D28N	p.D89N	NM_001136042.2	NP_001129514.2					3	610	-									Missense_Mutation	SNP	ENST00000453594.1	37	c.265G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.023051|4.023051	0.75275|0.75275	0.0|0.0	3.49E-4|3.49E-4	ENSG00000108825|ENSG00000108825	ENST00000360221;ENST00000409399;ENST00000421990;ENST00000409103;ENST00000454303;ENST00000453594;ENST00000409446|ENST00000452752	T;T;T;T;T;T;T|.	0.30981|.	1.51;1.51;1.51;1.51;1.51;1.51;1.51|.	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	0.289671|.	0.34046|.	N|.	0.004304|.	T|T	0.74261|0.74261	0.3693|0.3693	M|M	0.65498|0.65498	2.005|2.005	.|.	.|.	.|.	D;D;P;P;P|.	0.56746|.	0.967;0.977;0.731;0.85;0.593|.	P;P;B;B;B|.	0.53224|.	0.721;0.599;0.255;0.165;0.134|.	T|T	0.73011|0.73011	-0.4117|-0.4117	9|4	0.59425|.	D|.	0.04|.	-15.4105|-15.4105	18.5256|18.5256	0.90971|0.90971	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	89;51;89;28;46|.	E9PB15;B9A003;B4DI73;C9J5N1;B3KSP9|.	.;.;.;.;.|.	N|Q	28;89;89;28;28;89;51|17	ENSP00000353355:D28N;ENSP00000386621:D89N;ENSP00000409924:D89N;ENSP00000386254:D28N;ENSP00000407951:D28N;ENSP00000394415:D89N;ENSP00000386902:D51N|.	ENSP00000353355:D28N|.	D|R	-|-	1|2	0|0	AARSD1|AARSD1	38384974|38384974	1.000000|1.000000	0.71417|0.71417	0.921000|0.921000	0.36526|0.36526	0.711000|0.711000	0.40976|0.40976	5.561000|5.561000	0.67339|0.67339	2.590000|2.590000	0.87494|0.87494	0.643000|0.643000	0.83706|0.83706	GAT|CGA		0.512	PTGES3L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001142653		43	435	0	0	0	1	0	43	435				
ITM2C	81618	broad.mit.edu	37	2	231738190	231738190	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:231738190A>G	ENST00000326427.6	+	2	305	c.179A>G	c.(178-180)tAc>tGc	p.Y60C	ITM2C_ENST00000326407.6_Missense_Mutation_p.Y60C|ITM2C_ENST00000492029.1_3'UTR|ITM2C_ENST00000335005.6_Intron|ITM2C_ENST00000409704.2_5'UTR	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	60					negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGCGTGTGCTACCTGTCGATG	0.637																																						ENST00000326427.6																			0				cervix(2)|lung(1)|ovary(1)|skin(1)	5						c.(178-180)tAc>tGc		integral membrane protein 2C							118.0	84.0	95.0					2																	231738190		2203	4300	6503	SO:0001583	missense	81618				negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding	g.chr2:231738190A>G	AF038953	CCDS2479.1, CCDS33395.1, CCDS33396.1, CCDS74665.1	2q37	2012-10-10			ENSG00000135916	ENSG00000135916		"""BRICHOS domain containing"""	6175	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2C"""	609554				9653160	Standard	NM_030926		Approved	BRI3, E25, hRPC.1050_D_4, ITM3, BRICD2C	uc002vqz.3	Q9NQX7	OTTHUMG00000133219	ENST00000326427.6:c.179A>G	2.37:g.231738190A>G	ENSP00000322730:p.Tyr60Cys					ITM2C_ENST00000409704.2_5'UTR|ITM2C_ENST00000335005.6_Intron|ITM2C_ENST00000326407.6_Missense_Mutation_p.Y60C|ITM2C_ENST00000492029.1_3'UTR	p.Y60C	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	2	305	+		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	60					B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8	Missense_Mutation	SNP	ENST00000326427.6	37	c.179A>G	CCDS2479.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.255524	0.22965	.	.	ENSG00000135916	ENST00000457215;ENST00000326427;ENST00000326407	T;T;T	0.27402	1.67;2.07;2.12	4.85	3.62	0.41486	.	0.195180	0.46758	D	0.000273	T	0.09202	0.0227	N	0.01668	-0.77	0.80722	D	1	B;B	0.15141	0.012;0.001	B;B	0.10450	0.005;0.001	T	0.19224	-1.0312	10	0.05959	T	0.93	-26.4932	9.1276	0.36826	0.8019:0.1981:0.0:0.0	.	60;60	Q9NQX7-3;Q9NQX7	.;ITM2C_HUMAN	C	60	ENSP00000390655:Y60C;ENSP00000322730:Y60C;ENSP00000322100:Y60C	ENSP00000322100:Y60C	Y	+	2	0	ITM2C	231446434	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.794000	0.62482	1.816000	0.52996	0.533000	0.62120	TAC		0.637	ITM2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256954.2	NM_030926		7	42	0	0	0	1	0	7	42				
PCDHB7	56129	broad.mit.edu	37	5	140554308	140554308	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140554308G>A	ENST00000231137.3	+	1	2066	c.1892G>A	c.(1891-1893)aGc>aAc	p.S631N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	631	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCTGCTGAGCGAGCGCGAC	0.687																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1891-1893)aGc>aAc									40.0	64.0	56.0					5																	140554308		2181	4278	6459	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554308G>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1892G>A	5.37:g.140554308G>A	ENSP00000231137:p.Ser631Asn						p.S631N	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2066	+			631			Cadherin 6.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1892G>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335531	0.41398	.	.	ENSG00000113212	ENST00000231137	T	0.50001	0.76	3.98	3.01	0.34805	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.49508	0.1561	L	0.49126	1.545	0.27123	N	0.962088	P	0.50156	0.932	P	0.53185	0.72	T	0.33445	-0.9868	9	0.39692	T	0.17	.	6.4056	0.21662	0.1111:0.3269:0.562:0.0	.	631	Q9Y5E2	PCDB7_HUMAN	N	631	ENSP00000231137:S631N	ENSP00000231137:S631N	S	+	2	0	PCDHB7	140534492	0.000000	0.05858	1.000000	0.80357	0.924000	0.55760	0.326000	0.19646	1.922000	0.55676	0.449000	0.29647	AGC		0.687	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		10	160	0	0	0	1	0	10	160				
RGS12	6002	broad.mit.edu	37	4	3432301	3432301	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:3432301A>C	ENST00000344733.5	+	17	4637	c.3733A>C	c.(3733-3735)Agc>Cgc	p.S1245R	RGS12_ENST00000306648.7_3'UTR|RGS12_ENST00000336727.3_Missense_Mutation_p.S1245R|RGS12_ENST00000538395.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.S1245R|RGS12_ENST00000338806.4_Missense_Mutation_p.S597R	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1245					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TAGCAAGAGAAGCGCCACAGG	0.652																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3733-3735)Agc>Cgc		regulator of G-protein signaling 12							54.0	39.0	44.0					4																	3432301		2201	4300	6501	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3432301A>C	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3733A>C	4.37:g.3432301A>C	ENSP00000339381:p.Ser1245Arg					RGS12_ENST00000382788.3_Missense_Mutation_p.S1245R|RGS12_ENST00000344733.5_Missense_Mutation_p.S1245R|RGS12_ENST00000338806.4_Missense_Mutation_p.S597R|RGS12_ENST00000306648.7_3'UTR|RGS12_ENST00000538395.1_3'UTR	p.S1245R	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	17	4637	+			1245					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.3733A>C	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.297429	0.23650	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000338806	T;T;T;T	0.35236	1.62;1.62;1.62;1.32	4.62	-8.8	0.00817	.	1.812950	0.02654	N	0.106793	T	0.22282	0.0537	N	0.14661	0.345	0.20764	N	0.999853	B;B;B;B	0.28605	0.009;0.016;0.138;0.217	B;B;B;B	0.31337	0.006;0.006;0.06;0.128	T	0.21690	-1.0238	10	0.44086	T	0.13	2.7201	11.7487	0.51837	0.1219:0.5218:0.3563:0.0	.	587;597;1245;1245	O14924-2;O14924-3;O14924;O14924-4	.;.;RGS12_HUMAN;.	R	1245;1245;1245;597	ENSP00000339381:S1245R;ENSP00000338509:S1245R;ENSP00000372238:S1245R;ENSP00000342133:S597R	ENSP00000338509:S1245R	S	+	1	0	RGS12	3402099	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.452000	0.06787	-1.898000	0.01100	-0.274000	0.10170	AGC		0.652	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		6	30	0	0	0	1	0	6	30				
TRIM67	440730	broad.mit.edu	37	1	231339746	231339746	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:231339746G>T	ENST00000366653.5	+	6	1668	c.1668G>T	c.(1666-1668)ggG>ggT	p.G556G	TRIM67_ENST00000449018.3_Silent_p.G494G|TRIM67_ENST00000444294.3_Silent_p.G554G|TRIM67_ENST00000366652.2_Silent_p.G556G			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	556	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				ACGGTGCCGGGGGACAGTTCC	0.642																																						ENST00000444294.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1660-1662)ggG>ggT		tripartite motif containing 67							53.0	68.0	63.0					1																	231339746		2034	4176	6210	SO:0001819	synonymous_variant	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231339746G>T	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1668G>T	1.37:g.231339746G>T						TRIM67_ENST00000366653.5_Silent_p.G556G|TRIM67_ENST00000366652.2_Silent_p.G556G|TRIM67_ENST00000449018.3_Silent_p.G494G	p.G554G	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			6	2520	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	556			Fibronectin type-III.		Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	ENST00000366653.5	37	c.1662G>T	CCDS44333.1																																																																																				0.642	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		5	59	1	0	2.0095e-06	1	2.50954e-06	5	59				
SETX	23064	broad.mit.edu	37	9	135206728	135206728	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:135206728G>C	ENST00000224140.5	-	8	1128	c.946C>G	c.(946-948)Caa>Gaa	p.Q316E	SETX_ENST00000393220.1_Missense_Mutation_p.Q316E|SETX_ENST00000372169.2_Missense_Mutation_p.Q316E	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	316					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATAATGGTTTGAAATGCCACA	0.423																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(946-948)Caa>Gaa		senataxin							158.0	141.0	146.0					9																	135206728		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135206728G>C	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.946C>G	9.37:g.135206728G>C	ENSP00000224140:p.Gln316Glu					SETX_ENST00000393220.1_Missense_Mutation_p.Q316E|SETX_ENST00000224140.5_Missense_Mutation_p.Q316E	p.Q316E			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	8	1128	-		Myeloproliferative disorder(178;0.204)	316					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.946C>G	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712853	0.89112	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	T;T;T	0.63580	-0.05;-0.05;-0.05	6.17	6.17	0.99709	.	0.150530	0.47455	D	0.000235	T	0.73024	0.3534	L	0.32530	0.975	0.41484	D	0.988188	D	0.69078	0.997	D	0.78314	0.991	T	0.73956	-0.3819	10	0.87932	D	0	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	316	Q7Z333	SETX_HUMAN	E	316	ENSP00000224140:Q316E;ENSP00000361242:Q316E;ENSP00000376913:Q316E	ENSP00000224140:Q316E	Q	-	1	0	SETX	134196549	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.562000	0.82300	2.941000	0.99782	0.655000	0.94253	CAA		0.423	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		6	86	0	0	0	1	0	6	86				
DEPDC1	55635	broad.mit.edu	37	1	68943583	68943583	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:68943583C>A	ENST00000456315.2	-	11	2299	c.2185G>T	c.(2185-2187)Gag>Tag	p.E729*	DEPDC1_ENST00000370966.5_Nonsense_Mutation_p.E445*|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	729					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TCATCAAACTCCTGAGCACTA	0.348																																						ENST00000456315.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(2185-2187)Gag>Tag		DEP domain containing 1							134.0	141.0	138.0					1																	68943583		2203	4299	6502	SO:0001587	stop_gained	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68943583C>A	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.2185G>T	1.37:g.68943583C>A	ENSP00000412292:p.Glu729*					DEPDC1_ENST00000370966.5_Nonsense_Mutation_p.E445*	p.E729*	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	11	2299	-			729					A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Nonsense_Mutation	SNP	ENST00000456315.2	37	c.2185G>T	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	C	41	8.595919	0.98877	.	.	ENSG00000024526	ENST00000456315;ENST00000370966	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-4.6238	19.8436	0.96701	0.0:1.0:0.0:0.0	.	.	.	.	X	729;445	.	ENSP00000360005:E445X	E	-	1	0	DEPDC1	68716171	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.299000	0.78831	2.695000	0.91970	0.650000	0.86243	GAG		0.348	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		25	143	1	0	4.72057e-08	1	6.26309e-08	25	143				
C1orf162	128346	broad.mit.edu	37	1	112020707	112020707	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:112020707G>T	ENST00000343534.5	+	6	680	c.430G>T	c.(430-432)Gac>Tac	p.D144Y	C1orf162_ENST00000369718.3_Missense_Mutation_p.D119Y|C1orf162_ENST00000464591.1_3'UTR	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	144						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		TGCAGACTTTGACCCCATTGT	0.423																																						ENST00000343534.5																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5						c.(430-432)Gac>Tac		chromosome 1 open reading frame 162							93.0	88.0	89.0					1																	112020707		2203	4300	6503	SO:0001583	missense	128346					integral to membrane		g.chr1:112020707G>T	BC017973	CCDS837.1, CCDS72837.1	1p13.2	2008-02-05			ENSG00000143110	ENSG00000143110			28344	protein-coding gene	gene with protein product						12477932	Standard	XM_005270475		Approved	MGC24133	uc001ebe.3	Q8NEQ5	OTTHUMG00000011750	ENST00000343534.5:c.430G>T	1.37:g.112020707G>T	ENSP00000344218:p.Asp144Tyr					C1orf162_ENST00000369718.3_Missense_Mutation_p.D119Y|C1orf162_ENST00000464591.1_3'UTR	p.D144Y	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)	6	680	+		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	144					Q5QNZ1	Missense_Mutation	SNP	ENST00000343534.5	37	c.430G>T	CCDS837.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123419	0.56613	.	.	ENSG00000143110	ENST00000343534;ENST00000369718	D;D	0.96587	-4.06;-4.06	5.34	4.43	0.53597	.	1.042350	0.07578	N	0.919785	D	0.94981	0.8376	L	0.32530	0.975	0.09310	N	1	D	0.89917	1.0	D	0.68483	0.958	D	0.88972	0.3401	10	0.87932	D	0	-5.6144	9.8194	0.40874	0.0923:0.0:0.9077:0.0	.	144	Q8NEQ5	CA162_HUMAN	Y	144;119	ENSP00000344218:D144Y;ENSP00000358732:D119Y	ENSP00000344218:D144Y	D	+	1	0	C1orf162	111822230	0.553000	0.26513	0.028000	0.17463	0.113000	0.19764	2.751000	0.47508	1.488000	0.48433	0.561000	0.74099	GAC		0.423	C1orf162-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032471.1	NM_174896		12	72	1	0	5.50884e-06	1	6.76465e-06	12	72				
GAGE1	2543	broad.mit.edu	37	X	49369621	49369621	+	Intron	SNP	G	G	A	rs201143227		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:49369621G>A	ENST00000381700.6	+	5	405					NM_001040663.2	NP_001035753.1	Q13065	GAGE1_HUMAN	G antigen 1						cellular defense response (GO:0006968)							Ovarian(276;0.236)					tcactatgttgcccagactgg	0.423																																						ENST00000381709.2																			0											c.(352-354)Gcc>Acc		G antigen 1							79.0	72.0	74.0					X																	49369621		2203	4300	6503	SO:0001627	intron_variant	2543				cellular defense response			g.chrX:49369621G>A	U19142	CCDS43950.1	Xp11.23	2010-08-09			ENSG00000205777	ENSG00000205777			4098	protein-coding gene	gene with protein product	"""cancer/testis antigen family 4, member 1"""	300594				7544395	Standard	NM_001040663		Approved	CT4.1	uc004dol.2	Q13065	OTTHUMG00000024150	ENST00000381700.6:c.332-975G>A	X.37:g.49369621G>A						GAGE1_ENST00000381700.6_Intron	p.A118T			Q13065	GAGE1_HUMAN			5	463	+	Ovarian(276;0.236)		118						Missense_Mutation	SNP	ENST00000381700.6	37	c.352G>A	CCDS43950.1	.	.	.	.	.	.	.	.	.	.	.	4.129	0.022275	0.08006	.	.	ENSG00000205777	ENST00000381709	T	0.16743	2.32	0.185	0.185	0.15096	.	.	.	.	.	T	0.06050	0.0157	N	0.08118	0	0.09310	N	1	B	0.28026	0.198	B	0.16289	0.015	T	0.41142	-0.9525	8	0.10377	T	0.69	.	.	.	.	.	118	Q13065	GAGE1_HUMAN	T	118	ENSP00000371128:A118T	ENSP00000347280:A118T	A	+	1	0	GAGE1	49256565	0.004000	0.15560	0.033000	0.17914	0.096000	0.18686	0.859000	0.27858	0.275000	0.22094	0.279000	0.19357	GCC		0.423	GAGE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469627.1	NM_001468		5	25	0	0	0	1	0	5	25				
AQR	9716	broad.mit.edu	37	15	35162966	35162966	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:35162966C>A	ENST00000156471.5	-	31	3980	c.3755G>T	c.(3754-3756)gGa>gTa	p.G1252V		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1252					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GTTTGGTCTTCCAATCAATGG	0.338																																						ENST00000156471.5																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(3754-3756)gGa>gTa		aquarius intron-binding spliceosomal factor							83.0	76.0	78.0					15																	35162966		1821	4080	5901	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35162966C>A	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3755G>T	15.37:g.35162966C>A	ENSP00000156471:p.Gly1252Val						p.G1252V	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	31	3980	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	1252					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.3755G>T	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.992964	0.74703	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.92149	-2.98	5.02	5.02	0.67125	.	0.095975	0.64402	D	0.000001	D	0.96722	0.8930	M	0.89214	3.015	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.97420	1.0008	10	0.87932	D	0	-22.2302	18.6874	0.91570	0.0:1.0:0.0:0.0	.	1252	O60306	AQR_HUMAN	V	1252	ENSP00000156471:G1252V	ENSP00000156471:G1252V	G	-	2	0	AQR	32950258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.026000	0.70873	2.486000	0.83907	0.655000	0.94253	GGA		0.338	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		4	35	1	0	0.150653	1	0.152925	4	35				
ST8SIA4	7903	broad.mit.edu	37	5	100191928	100191928	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:100191928G>A	ENST00000231461.5	-	4	986	c.676C>T	c.(676-678)Cct>Tct	p.P226S		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	226					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		ATGAAAGCAGGAATCCAAAGG	0.418																																						ENST00000231461.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(676-678)Cct>Tct		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4							199.0	178.0	185.0					5																	100191928		2203	4300	6503	SO:0001583	missense	7903				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr5:100191928G>A	L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.676C>T	5.37:g.100191928G>A	ENSP00000231461:p.Pro226Ser						p.P226S	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN		COAD - Colon adenocarcinoma(37;0.00402)	4	986	-		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)	226					A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	ENST00000231461.5	37	c.676C>T	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661903	0.88251	.	.	ENSG00000113532	ENST00000231461	T	0.32515	1.45	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.43700	0.1259	M	0.85197	2.74	0.80722	D	1	B	0.28584	0.216	B	0.29176	0.099	T	0.48281	-0.9049	10	0.62326	D	0.03	-4.054	18.1509	0.89674	0.0:0.0:1.0:0.0	.	226	Q92187	SIA8D_HUMAN	S	226	ENSP00000231461:P226S	ENSP00000231461:P226S	P	-	1	0	ST8SIA4	100219827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.615000	0.98356	2.751000	0.94390	0.591000	0.81541	CCT		0.418	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668		9	78	0	0	0	1	0	9	78				
ABCF1	23	broad.mit.edu	37	6	30545865	30545865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:30545865C>T	ENST00000326195.8	+	4	341	c.229C>T	c.(229-231)Cga>Tga	p.R77*	ABCF1_ENST00000376545.3_Nonsense_Mutation_p.R77*|ABCF1_ENST00000396515.4_Nonsense_Mutation_p.R77*	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	77					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AAAAAAAAAGCGAGATACCCG	0.493																																						ENST00000326195.8																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.(229-231)Cga>Tga		ATP-binding cassette, sub-family F (GCN20), member 1							73.0	79.0	77.0					6																	30545865		2203	4300	6503	SO:0001587	stop_gained	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30545865C>T	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.229C>T	6.37:g.30545865C>T	ENSP00000313603:p.Arg77*					ABCF1_ENST00000376545.3_Nonsense_Mutation_p.R77*|ABCF1_ENST00000396515.4_Nonsense_Mutation_p.R77*	p.R77*	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN			4	341	+			77					A2BF75|O14897|Q69YP6	Nonsense_Mutation	SNP	ENST00000326195.8	37	c.229C>T	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	C	37	6.466774	0.97590	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943;ENST00000441867;ENST00000396515	.	.	.	5.53	5.53	0.82687	.	0.344631	0.21527	N	0.073117	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5316	16.7375	0.85451	0.0:1.0:0.0:0.0	.	.	.	.	X	77;77;78;78;77	.	ENSP00000313603:R77X	R	+	1	2	ABCF1	30653844	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.374000	0.52402	2.766000	0.95052	0.557000	0.71058	CGA		0.493	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			16	77	0	0	0	1	0	16	77				
SLITRK5	26050	broad.mit.edu	37	13	88327745	88327745	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:88327745C>A	ENST00000325089.6	+	2	321	c.102C>A	c.(100-102)gtC>gtA	p.V34V	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	34					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CATCTCTCGTCCTTTCGTGTG	0.463																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(100-102)gtC>gtA		SLIT and NTRK-like family, member 5							164.0	138.0	147.0					13																	88327745		2203	4300	6503	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88327745C>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.102C>A	13.37:g.88327745C>A						SLITRK5_ENST00000400028.3_Intron	p.V34V	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	321	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		34					B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.102C>A	CCDS9465.1																																																																																				0.463	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			18	88	1	0	4.75885e-15	1	7.26871e-15	18	88				
EML2	24139	broad.mit.edu	37	19	46137675	46137675	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:46137675C>A	ENST00000245925.3	-	4	284	c.234G>T	c.(232-234)ggG>ggT	p.G78G	EML2_ENST00000587152.1_Silent_p.G279G|EML2_ENST00000586902.1_5'Flank|EML2_ENST00000536630.1_Silent_p.G225G|EML2_ENST00000589876.1_Silent_p.G78G	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	78	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		ACACTATCTCCCCGGTGGGCA	0.557																																						ENST00000536630.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.(673-675)ggG>ggT		echinoderm microtubule associated protein like 2							74.0	52.0	60.0					19																	46137675		2203	4300	6503	SO:0001819	synonymous_variant	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46137675C>A	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.234G>T	19.37:g.46137675C>A						EML2_ENST00000587152.1_Silent_p.G279G|EML2_ENST00000589876.1_Silent_p.G78G|EML2_ENST00000245925.3_Silent_p.G78G	p.G225G	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	7	813	-		Ovarian(192;0.179)|all_neural(266;0.224)	78					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Silent	SNP	ENST00000245925.3	37	c.675G>T	CCDS12670.1																																																																																				0.557	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		6	20	1	0	0.0215528	1	0.0223551	6	20				
DDX52	11056	broad.mit.edu	37	17	35992314	35992314	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:35992314C>A	ENST00000349699.2	-	4	475	c.432G>T	c.(430-432)cgG>cgT	p.R144R	DDX52_ENST00000394367.3_Silent_p.R36R	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	144						membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				TGTGTTTATTCCGCAAGAAGT	0.373																																						ENST00000349699.2																			0				biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17						c.(430-432)cgG>cgT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 52							117.0	117.0	117.0					17																	35992314		2203	4300	6503	SO:0001819	synonymous_variant	11056					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr17:35992314C>A	AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"""DEAD-boxes"""	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.432G>T	17.37:g.35992314C>A						DDX52_ENST00000394367.3_Silent_p.R36R	p.R144R	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN			4	475	-		Breast(25;0.00637)|Ovarian(249;0.15)	144					Q86YG1|Q8N213|Q9NVE0|Q9Y482	Silent	SNP	ENST00000349699.2	37	c.432G>T	CCDS11323.1																																																																																				0.373	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300		15	109	1	0	8.60227e-14	1	1.29676e-13	15	109				
MFSD9	84804	broad.mit.edu	37	2	103347528	103347528	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:103347528C>A	ENST00000258436.5	-	3	297		c.e3-1			NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						TAGGAGGAGCCTGTAAAAAAC	0.348																																						ENST00000258436.5																			0				breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						c.e3-1		major facilitator superfamily domain containing 9							94.0	99.0	97.0					2																	103347528		2203	4300	6503	SO:0001630	splice_region_variant	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103347528C>A		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.254-1G>T	2.37:g.103347528C>A								NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN			3	297	-								Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Splice_Site	SNP	ENST00000258436.5	37		CCDS2063.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363507	0.61513	.	.	ENSG00000135953	ENST00000258436	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8002	0.78447	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MFSD9	102713960	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	6.372000	0.73123	2.310000	0.77875	0.591000	0.81541	.		0.348	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718	Intron	9	61	1	0	2.17888e-05	1	2.58902e-05	9	61				
ZNF91	7644	broad.mit.edu	37	19	23544294	23544294	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:23544294C>T	ENST00000300619.7	-	4	1692	c.1487G>A	c.(1486-1488)gGc>gAc	p.G496D	ZNF91_ENST00000397082.2_Missense_Mutation_p.G464D|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	496					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AAAAGCTTTGCCACATTCTTC	0.368																																						ENST00000300619.7																			0											c.(1486-1488)gGc>gAc		zinc finger protein 91							60.0	65.0	63.0					19																	23544294		2169	4277	6446	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544294C>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1487G>A	19.37:g.23544294C>T	ENSP00000300619:p.Gly496Asp					ZNF91_ENST00000397082.2_Missense_Mutation_p.G464D|ZNF91_ENST00000599743.1_Intron	p.G496D	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1692	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	496					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.1487G>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.349330	0.41599	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.01430	4.9;4.9	1.71	1.71	0.24356	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04227	0.0117	L	0.41124	1.26	0.32739	N	0.507913	D;D	0.89917	1.0;0.999	D;D	0.72625	0.978;0.939	T	0.36696	-0.9737	9	0.59425	D	0.04	.	10.3697	0.44046	0.0:1.0:0.0:0.0	.	464;496	Q05481-2;Q05481	.;ZNF91_HUMAN	D	496;464	ENSP00000300619:G496D;ENSP00000380272:G464D	ENSP00000300619:G496D	G	-	2	0	ZNF91	23336134	0.041000	0.20044	0.099000	0.21106	0.264000	0.26372	0.570000	0.23653	0.921000	0.36994	0.205000	0.17691	GGC		0.368	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		7	45	0	0	0	1	0	7	45				
SPANXN2	494119	broad.mit.edu	37	X	142795316	142795316	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:142795316G>T	ENST00000370498.1	-	2	1115	c.362C>A	c.(361-363)tCt>tAt	p.S121Y		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	121								p.K49K(1)|p.S121F(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTGTGAAGATCCTTCAGA	0.522																																						ENST00000370498.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.K49K(1)|p.S121F(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(361-363)tCt>tAt		SPANX family, member N2							20.0	20.0	20.0					X																	142795316		2116	4094	6210	SO:0001583	missense	494119							g.chrX:142795316G>T		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.362C>A	X.37:g.142795316G>T	ENSP00000359529:p.Ser121Tyr						p.S121Y	NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN			2	1115	-	Acute lymphoblastic leukemia(192;6.56e-05)		121					Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	c.362C>A	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	N	4.491	0.090968	0.08632	.	.	ENSG00000203924	ENST00000370498	T	0.08546	3.08	0.441	-0.882	0.10604	.	.	.	.	.	T	0.11495	0.0280	L	0.31065	0.9	0.09310	N	1	D	0.59357	0.985	P	0.59643	0.861	T	0.21109	-1.0255	8	0.87932	D	0	.	.	.	.	.	121	Q5MJ10	SPXN2_HUMAN	Y	121	ENSP00000359529:S121Y	ENSP00000359529:S121Y	S	-	2	0	SPANXN2	142622982	0.058000	0.20735	0.000000	0.03702	0.019000	0.09904	-0.386000	0.07370	-0.585000	0.05905	0.263000	0.19301	TCT		0.522	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		19	211	1	0	1.67305e-13	1	2.50337e-13	19	211				
KCNQ3	3786	broad.mit.edu	37	8	133187702	133187702	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:133187702G>T	ENST00000388996.4	-	5	1351	c.931C>A	c.(931-933)Ctg>Atg	p.L311M	KCNQ3_ENST00000519445.1_Missense_Mutation_p.L311M|KCNQ3_ENST00000521134.1_Missense_Mutation_p.L191M	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	311					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TGACTCACCAGGCCCCACCAC	0.532																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(931-933)Ctg>Atg		potassium voltage-gated channel, KQT-like subfamily, member 3							152.0	133.0	139.0					8																	133187702		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133187702G>T	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.931C>A	8.37:g.133187702G>T	ENSP00000373648:p.Leu311Met					KCNQ3_ENST00000519445.1_Missense_Mutation_p.L311M|KCNQ3_ENST00000521134.1_Missense_Mutation_p.L191M	p.L311M	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		5	1351	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		311					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.931C>A	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302102	0.60195	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.98633	-5.04;-5.04;-5.04	5.51	2.73	0.32206	Ion transport (1);	0.076246	0.53938	D	0.000049	D	0.97813	0.9282	L	0.37697	1.125	0.49687	D	0.999814	D;D	0.62365	0.991;0.991	D;D	0.64877	0.93;0.93	D	0.96538	0.9398	10	0.62326	D	0.03	-12.922	8.2785	0.31887	0.1418:0.1291:0.729:0.0	.	311;311	E7ET42;O43525	.;KCNQ3_HUMAN	M	311;191;311;300;190	ENSP00000373648:L311M;ENSP00000429799:L191M;ENSP00000428790:L311M	ENSP00000373648:L311M	L	-	1	2	KCNQ3	133256884	1.000000	0.71417	0.993000	0.49108	0.866000	0.49608	4.039000	0.57325	0.375000	0.24679	-0.878000	0.02970	CTG		0.532	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		11	105	1	0	0.010729	1	0.0113173	11	105				
GPX6	257202	broad.mit.edu	37	6	28473480	28473480	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:28473480C>T	ENST00000361902.1	-	4	508	c.459G>A	c.(457-459)aaG>aaA	p.K153K	GPX6_ENST00000474923.1_Intron|GPX6_ENST00000483058.1_5'Flank	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	153					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	ACTCATGCACCTTCAGGAAAG	0.468																																						ENST00000361902.1																			0				NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e4+1		glutathione peroxidase 6 (olfactory)	Glutathione(DB00143)						81.0	84.0	83.0					6																	28473480		2104	4251	6355	SO:0001630	splice_region_variant	257202				response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28473480C>T		CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"""glutathione peroxidase pseudogene 3"""	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000361902.1:c.459+1G>A	6.37:g.28473480C>T						GPX6_ENST00000474923.1_Intron	p.K153_splice	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN			4	508	-			153					Q4PJ17	Splice_Site	SNP	ENST00000361902.1	37	c.459_splice	CCDS43432.1																																																																																				0.468	GPX6-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000104340.1		Silent	12	63	0	0	0	1	0	12	63				
RRN3	54700	broad.mit.edu	37	16	15170451	15170451	+	Silent	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:15170451A>G	ENST00000198767.6	-	10	905	c.822T>C	c.(820-822)tgT>tgC	p.C274C	RRN3_ENST00000327307.7_Silent_p.C241C|RRN3_ENST00000564131.1_Silent_p.C274C|RRN3_ENST00000429751.2_Silent_p.C244C|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000563559.1_Silent_p.C274C|RRN3_ENST00000540462.1_Silent_p.C92C	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	274					cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						CTGTCCCACCACAAGTTTGAG	0.368																																						ENST00000198767.6																			0				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						c.(820-822)tgT>tgC		RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)							85.0	77.0	79.0					16																	15170451		2197	4300	6497	SO:0001819	synonymous_variant	54700				regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm		g.chr16:15170451A>G	AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"""RRN3 RNA polymerase I transcription factor homolog (yeast)"""			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.822T>C	16.37:g.15170451A>G						RRN3_ENST00000563559.1_Silent_p.C274C|RRN3_ENST00000564131.1_Silent_p.C274C|RRN3_ENST00000429751.2_Silent_p.C244C|RRN3_ENST00000540462.1_Silent_p.C92C|RRN3_ENST00000327307.7_Silent_p.C241C|PDXDC1_ENST00000535621.2_Intron	p.C274C	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN			10	905	-			274					A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Silent	SNP	ENST00000198767.6	37	c.822T>C	CCDS10559.1																																																																																				0.368	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252087.2	NM_018427		9	55	0	0	0	1	0	9	55				
NXPE4	54827	broad.mit.edu	37	11	114441971	114441971	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:114441971A>T	ENST00000375478.3	-	6	1504	c.1324T>A	c.(1324-1326)Ttt>Att	p.F442I	NXPE4_ENST00000424261.2_Missense_Mutation_p.F158I	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	442						extracellular vesicular exosome (GO:0070062)											TCAATGGGAAAGGGTCTGAAA	0.448																																						ENST00000375478.3																			0											c.(1324-1326)Ttt>Att		neurexophilin and PC-esterase domain family, member 4							144.0	134.0	137.0					11																	114441971		1866	4089	5955	SO:0001583	missense	54827							g.chr11:114441971A>T	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.1324T>A	11.37:g.114441971A>T	ENSP00000364627:p.Phe442Ile					NXPE4_ENST00000424261.2_Missense_Mutation_p.F158I	p.F442I	NM_001077639.1	NP_001071107.1					6	1504	-								Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.1324T>A	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.530422	0.85706	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.28255	1.62;1.62	5.51	4.39	0.52855	.	0.088206	0.48286	D	0.000198	T	0.57888	0.2084	M	0.89214	3.015	0.38580	D	0.950155	D	0.71674	0.998	D	0.74023	0.982	T	0.64437	-0.6408	10	0.44086	T	0.13	.	10.5395	0.45024	0.9231:0.0:0.0769:0.0	.	442	Q6UWF7	FA55D_HUMAN	I	158;442	ENSP00000401503:F158I;ENSP00000364627:F442I	ENSP00000364627:F442I	F	-	1	0	FAM55D	113947181	0.998000	0.40836	0.995000	0.50966	0.973000	0.67179	3.131000	0.50515	1.037000	0.40024	0.533000	0.62120	TTT		0.448	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		15	111	0	0	0	1	0	15	111				
STOX2	56977	broad.mit.edu	37	4	184931158	184931158	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:184931158G>T	ENST00000308497.4	+	3	2602	c.1167G>T	c.(1165-1167)ctG>ctT	p.L389L	STOX2_ENST00000438269.1_Silent_p.L389L	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	389					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GTTCACATCTGGATATCCCAG	0.488																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(1165-1167)ctG>ctT		storkhead box 2							59.0	57.0	58.0					4																	184931158		1934	4145	6079	SO:0001819	synonymous_variant	56977				embryo development|maternal placenta development			g.chr4:184931158G>T	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1167G>T	4.37:g.184931158G>T						STOX2_ENST00000438269.1_Silent_p.L389L	p.L389L	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	2602	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	389					A6H8U4|Q9NPS8	Silent	SNP	ENST00000308497.4	37	c.1167G>T	CCDS47167.1																																																																																				0.488	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		4	24	1	0	0.00909568	1	0.00960694	4	24				
GOLGA3	2802	broad.mit.edu	37	12	133363311	133363311	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:133363311T>A	ENST00000450791.2	-	13	3057	c.2874A>T	c.(2872-2874)aaA>aaT	p.K958N	GOLGA3_ENST00000537452.1_Missense_Mutation_p.K958N|GOLGA3_ENST00000204726.3_Missense_Mutation_p.K958N|GOLGA3_ENST00000456883.2_Missense_Mutation_p.K958N|GOLGA3_ENST00000545875.1_Missense_Mutation_p.K958N			Q08378	GOGA3_HUMAN	golgin A3	958					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTTCGATTTGTTTCTTCAGCG	0.647																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2872-2874)aaA>aaT		golgin A3							151.0	144.0	146.0					12																	133363311		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133363311T>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2874A>T	12.37:g.133363311T>A	ENSP00000410378:p.Lys958Asn					GOLGA3_ENST00000450791.2_Missense_Mutation_p.K958N|GOLGA3_ENST00000537452.1_Missense_Mutation_p.K958N|GOLGA3_ENST00000456883.2_Missense_Mutation_p.K958N|GOLGA3_ENST00000545875.1_Missense_Mutation_p.K958N	p.K958N	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	14	3432	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	958					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.2874A>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	T	13.57	2.276397	0.40294	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.35048	1.8;1.8;1.8;1.33;1.33	5.01	-7.49	0.01355	.	0.443627	0.27240	N	0.020276	T	0.32224	0.0822	M	0.67953	2.075	0.80722	D	1	P;P;P	0.44195	0.646;0.496;0.828	B;B;B	0.42112	0.292;0.218;0.376	T	0.50329	-0.8841	10	0.49607	T	0.09	.	13.8393	0.63428	0.0:0.616:0.0979:0.2861	.	958;958;958	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	N	958	ENSP00000204726:K958N;ENSP00000410378:K958N;ENSP00000409303:K958N;ENSP00000442143:K958N;ENSP00000442603:K958N	ENSP00000204726:K958N	K	-	3	2	GOLGA3	131873384	0.264000	0.24093	0.006000	0.13384	0.120000	0.20174	-0.405000	0.07196	-1.623000	0.01558	0.377000	0.23210	AAA		0.647	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		27	108	0	0	0	1	0	27	108				
TONSL	4796	broad.mit.edu	37	8	145659042	145659042	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:145659042C>T	ENST00000409379.3	-	22	3517	c.3488G>A	c.(3487-3489)cGc>cAc	p.R1163H	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1163					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CGCCTGCAGGCGCAGGGTGCT	0.632																																						ENST00000409379.3																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(3487-3489)cGc>cAc		tonsoku-like, DNA repair protein							50.0	56.0	54.0					8																	145659042		2203	4300	6503	SO:0001583	missense	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145659042C>T		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3488G>A	8.37:g.145659042C>T	ENSP00000386239:p.Arg1163His						p.R1163H	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN			22	3517	-			1163					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	c.3488G>A	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	c	0.018	-1.472373	0.01044	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.54071	0.59	5.2	0.865	0.19074	.	0.346310	0.30989	N	0.008473	T	0.23846	0.0577	N	0.11255	0.115	0.26494	N	0.974882	B	0.12013	0.005	B	0.04013	0.001	T	0.29058	-1.0024	10	0.02654	T	1	-20.6508	8.2087	0.31471	0.0:0.3977:0.0:0.6023	.	1163	Q96HA7	TONSL_HUMAN	H	1163;1162	ENSP00000386239:R1163H	ENSP00000386239:R1163H	R	-	2	0	TONSL	145629850	0.008000	0.16893	0.689000	0.30133	0.044000	0.14063	-0.031000	0.12287	0.092000	0.17331	0.462000	0.41574	CGC		0.632	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		6	78	0	0	0	1	0	6	78				
SCN7A	6332	broad.mit.edu	37	2	167263029	167263029	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:167263029C>A	ENST00000409855.1	-	25	4236	c.4110G>T	c.(4108-4110)atG>atT	p.M1370I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1370					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TCAAAGGAAGCATCAGATTAT	0.428																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(4108-4110)atG>atT		sodium channel, voltage-gated, type VII, alpha subunit							102.0	99.0	100.0					2																	167263029		1977	4160	6137	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167263029C>A	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4110G>T	2.37:g.167263029C>A	ENSP00000386796:p.Met1370Ile						p.M1370I	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			25	4236	-			1370						Missense_Mutation	SNP	ENST00000409855.1	37	c.4110G>T	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	8.631	0.893635	0.17613	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.98221	-4.8	5.35	-1.09	0.09904	Ion transport (1);	0.221019	0.32593	N	0.005898	D	0.91862	0.7424	N	0.13327	0.33	0.31484	N	0.666802	B	0.15719	0.014	B	0.13407	0.009	D	0.84511	0.0622	10	0.87932	D	0	.	0.4782	0.00543	0.2573:0.3075:0.1257:0.3096	.	1370	Q01118	SCN7A_HUMAN	I	1370	ENSP00000386796:M1370I	ENSP00000259060:M1370I	M	-	3	0	SCN7A	166971275	0.448000	0.25681	0.920000	0.36463	0.234000	0.25298	-0.236000	0.09003	-0.031000	0.13781	-0.123000	0.14984	ATG		0.428	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			17	71	1	0	1.99824e-07	1	2.60836e-07	17	71				
SH3BP1	23616	broad.mit.edu	37	22	38046214	38046214	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr22:38046214G>T	ENST00000357436.4	+	15	1685	c.1372G>T	c.(1372-1374)Gtc>Ttc	p.V458F	SH3BP1_ENST00000599616.1_Missense_Mutation_p.V394F|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_Silent_p.S490S	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	458	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GGTGGGCGTCGTCGAGGCGCT	0.637																																						ENST00000599616.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1180-1182)Gtc>Ttc		SH3-domain binding protein 1							47.0	40.0	42.0					22																	38046214		2203	4300	6503	SO:0001583	missense	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38046214G>T		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.1372G>T	22.37:g.38046214G>T	ENSP00000350018:p.Val458Phe					Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_Silent_p.S490S|SH3BP1_ENST00000357436.4_Missense_Mutation_p.V458F	p.V394F			Q9Y3L3	3BP1_HUMAN			13	1180	+	Melanoma(58;0.0574)		458			Rho-GAP.		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	ENST00000357436.4	37	c.1180G>T	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687761	0.68157	.	.	ENSG00000100092	ENST00000357436;ENST00000397014	T	0.14022	2.54	5.65	5.65	0.86999	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.49305	D	0.000141	T	0.49423	0.1556	M	0.93375	3.41	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.75484	0.986;0.953;0.969;0.978	T	0.61763	-0.6996	10	0.87932	D	0	.	16.882	0.86065	0.0:0.0:1.0:0.0	.	372;394;458;372	E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;3BP1_HUMAN;.	F	458;372	ENSP00000350018:V458F	ENSP00000350018:V458F	V	+	1	0	SH3BP1	36376160	1.000000	0.71417	0.984000	0.44739	0.475000	0.33008	3.622000	0.54217	2.653000	0.90120	0.563000	0.77884	GTC		0.637	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		8	34	1	0	5.18039e-06	1	6.40024e-06	8	34				
GABRA2	2555	broad.mit.edu	37	4	46252339	46252339	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:46252339C>A	ENST00000510861.1	-	10	1515	c.1342G>T	c.(1342-1344)Ggg>Tgg	p.G448W	GABRA2_ENST00000507069.1_Missense_Mutation_p.G508W|GABRA2_ENST00000514090.1_Missense_Mutation_p.G448W|GABRA2_ENST00000540012.1_Missense_Mutation_p.G453W|GABRA2_ENST00000356504.1_Missense_Mutation_p.G448W|GABRA2_ENST00000381620.4_Missense_Mutation_p.G448W			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	448					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	GGACTGACCCCTAATACAGGT	0.338																																						ENST00000510861.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(1342-1344)Ggg>Tgg		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						74.0	79.0	77.0					4																	46252339		2201	4294	6495	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46252339C>A		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1342G>T	4.37:g.46252339C>A	ENSP00000421828:p.Gly448Trp					GABRA2_ENST00000507069.1_Missense_Mutation_p.G508W|GABRA2_ENST00000356504.1_Missense_Mutation_p.G448W|GABRA2_ENST00000381620.4_Missense_Mutation_p.G448W|GABRA2_ENST00000514090.1_Missense_Mutation_p.G448W|GABRA2_ENST00000540012.1_Missense_Mutation_p.G453W	p.G448W			P47869	GBRA2_HUMAN			10	1515	-			448					A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.1342G>T	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046326	0.55110	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	T;T;T;T;D;T	0.82526	-1.38;-1.38;-1.38;-1.38;-1.62;-1.49	5.85	5.85	0.93711	.	0.286677	0.37715	N	0.001977	T	0.81725	0.4883	N	0.08118	0	0.35776	D	0.821257	D;D	0.89917	1.0;0.97	D;P	0.85130	0.997;0.704	D	0.86580	0.1853	10	0.72032	D	0.01	.	12.4559	0.55704	0.0:0.924:0.0:0.076	.	453;448	B7Z1H8;P47869	.;GBRA2_HUMAN	W	448;448;448;448;453;508	ENSP00000421828:G448W;ENSP00000421300:G448W;ENSP00000371033:G448W;ENSP00000348897:G448W;ENSP00000444409:G453W;ENSP00000427603:G508W	ENSP00000348897:G448W	G	-	1	0	GABRA2	45947096	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.434000	0.59935	2.767000	0.95098	0.655000	0.94253	GGG		0.338	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			8	57	1	0	2.17888e-05	1	2.58902e-05	8	57				
PCDHB13	56123	broad.mit.edu	37	5	140596039	140596039	+	Nonsense_Mutation	SNP	G	G	T	rs138168445		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140596039G>T	ENST00000341948.4	+	1	2531	c.2344G>T	c.(2344-2346)Gaa>Taa	p.E782*		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	782					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGGGAAAGAAATACAAGG	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		18580	0.0		0.0	False		,,,				2504	0.001					ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(2344-2346)Gaa>Taa				G	stop/GLU	0,4406		0,0,2203	85.0	90.0	89.0		2344	2.3	0.0	5	dbSNP_134	89	6,8594		0,6,4294	yes	stop-gained	PCDHB13	NM_018933.2		0,6,6497	TT,TG,GG		0.0698,0.0,0.0461		782/799	140596039	6,13000	2203	4300	6503	SO:0001587	stop_gained	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140596039G>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2344G>T	5.37:g.140596039G>T	ENSP00000345491:p.Glu782*						p.E782*	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2531	+			782					A8K9V6	Nonsense_Mutation	SNP	ENST00000341948.4	37	c.2344G>T	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	35	5.436859	0.96168	0.0	6.98E-4	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	.	.	.	4.1	2.26	0.28386	.	.	.	.	.	.	.	.	.	.	.	0.31926	N	0.612808	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	6.5642	0.22503	0.0959:0.0:0.7245:0.1796	.	.	.	.	X	782;782;728	.	ENSP00000345491:E782X	E	+	1	0	PCDHB13	140576223	0.002000	0.14202	0.028000	0.17463	0.131000	0.20780	0.141000	0.16076	0.847000	0.35167	-0.678000	0.03780	GAA		0.438	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		26	61	1	0	1.64293e-13	1	2.46288e-13	26	61				
GC	2638	broad.mit.edu	37	4	72634065	72634065	+	Nonsense_Mutation	SNP	C	C	A	rs372964536		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:72634065C>A	ENST00000273951.8	-	3	557	c.214G>T	c.(214-216)Gaa>Taa	p.E72*	GC_ENST00000513476.1_Nonsense_Mutation_p.E72*|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Nonsense_Mutation_p.E91*	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	72	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	CAGCAGGCTTCGGTCAAGGAG	0.527																																						ENST00000273951.8																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45						c.(214-216)Gaa>Taa		group-specific component (vitamin D binding protein)	Cholecalciferol(DB00169)						62.0	54.0	56.0					4																	72634065		2203	4300	6503	SO:0001587	stop_gained	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72634065C>A	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.214G>T	4.37:g.72634065C>A	ENSP00000273951:p.Glu72*					GC_ENST00000513476.1_Nonsense_Mutation_p.E72*|GC_ENST00000504199.1_Nonsense_Mutation_p.E91*|GC_ENST00000503472.1_5'UTR	p.E72*	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	Lung(101;0.148)		3	557	-		all_hematologic(202;0.107)	72			Albumin 1.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Nonsense_Mutation	SNP	ENST00000273951.8	37	c.214G>T	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	C	36	5.842095	0.97016	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476;ENST00000506245	.	.	.	6.04	6.04	0.98038	.	0.055390	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.1899	0.98228	0.0:1.0:0.0:0.0	.	.	.	.	X	72;91;72;72	.	ENSP00000273951:E72X	E	-	1	0	GC	72852929	0.982000	0.34865	0.181000	0.23098	0.049000	0.14656	3.031000	0.49728	2.873000	0.98535	0.563000	0.77884	GAA		0.527	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			11	26	1	0	0.000673444	1	0.000750542	11	26				
CEACAM5	1048	broad.mit.edu	37	19	42224891	42224891	+	Silent	SNP	G	G	A	rs375165799		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:42224891G>A	ENST00000221992.6	+	8	1935	c.1821G>A	c.(1819-1821)tcG>tcA	p.S607S	CEACAM5_ENST00000405816.1_Silent_p.S607S|CEACAM5_ENST00000398599.4_Silent_p.S606S|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	607	Ig-like 7.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CTTACCTTTCGGGAGCGAACC	0.542																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1819-1821)tcG>tcA		carcinoembryonic antigen-related cell adhesion molecule 5							134.0	130.0	131.0					19																	42224891		2203	4300	6503	SO:0001819	synonymous_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42224891G>A	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1821G>A	19.37:g.42224891G>A						CEACAM5_ENST00000405816.1_Silent_p.S607S|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Silent_p.S606S	p.S607S	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	8	1935	+			607			Ig-like 7.		H9KVA7	Silent	SNP	ENST00000221992.6	37	c.1821G>A	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	G	1.886	-0.456566	0.04540	.	.	ENSG00000105388	ENST00000398599	.	.	.	2.17	0.996	0.19844	.	.	.	.	.	T	0.24044	0.0582	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.23691	-1.0181	4	.	.	.	.	3.9414	0.09329	0.8064:0.0:0.1936:0.0	.	.	.	.	R	603	.	.	G	+	1	0	CEACAM5	46916731	0.135000	0.22499	0.005000	0.12908	0.003000	0.03518	-0.019000	0.12546	0.259000	0.21709	-0.670000	0.03821	GGG		0.542	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		17	128	0	0	0	1	0	17	128				
T	6862	broad.mit.edu	37	6	166579304	166579304	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:166579304A>C	ENST00000296946.2	-	4	964	c.496T>G	c.(496-498)Tat>Gat	p.Y166D	T_ENST00000366871.3_Missense_Mutation_p.Y166D	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	166					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CGAGGCTCATACTTATGCAAG	0.498									Chordoma, Familial Clustering of																													ENST00000296946.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(496-498)Tat>Gat		T, brachyury homolog (mouse)							313.0	284.0	294.0					6																	166579304		2203	4300	6503	SO:0001583	missense	6862	Chordoma, Familial Clustering of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166579304A>C	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.496T>G	6.37:g.166579304A>C	ENSP00000296946:p.Tyr166Asp					T_ENST00000366871.3_Missense_Mutation_p.Y166D	p.Y166D	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	4	964	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	166					E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	c.496T>G	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	A	18.00	3.524354	0.64747	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D;D	0.90955	-2.76;-2.76;-2.76	4.94	4.94	0.65067	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97059	0.9039	H	0.98866	4.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98440	1.0586	10	0.87932	D	0	.	13.7955	0.63168	1.0:0.0:0.0:0.0	.	166;166;166	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	D	166	ENSP00000355841:Y166D;ENSP00000296946:Y166D;ENSP00000355836:Y166D	ENSP00000296946:Y166D	Y	-	1	0	T	166499294	1.000000	0.71417	0.998000	0.56505	0.551000	0.35334	8.685000	0.91246	1.850000	0.53721	0.459000	0.35465	TAT		0.498	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		42	250	0	0	0	1	0	42	250				
FAT3	120114	broad.mit.edu	37	11	92531674	92531674	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:92531674C>A	ENST00000298047.6	+	9	5512	c.5495C>A	c.(5494-5496)gCa>gAa	p.A1832E	FAT3_ENST00000409404.2_Missense_Mutation_p.A1832E|FAT3_ENST00000525166.1_Missense_Mutation_p.A1682E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1832	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTACAGGTGCAATCAGAACA	0.483										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(5494-5496)gCa>gAa		FAT atypical cadherin 3							58.0	55.0	56.0					11																	92531674		1964	4163	6127	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92531674C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5495C>A	11.37:g.92531674C>A	ENSP00000298047:p.Ala1832Glu	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.A1682E|FAT3_ENST00000409404.2_Missense_Mutation_p.A1832E	p.A1832E			Q8TDW7	FAT3_HUMAN			9	5512	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1832			Cadherin 16.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.5495C>A		.	.	.	.	.	.	.	.	.	.	C	18.49	3.636400	0.67130	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01821	4.62;4.62;4.62	5.93	5.93	0.95920	.	.	.	.	.	T	0.04003	0.0112	N	0.21324	0.655	0.80722	D	1	D	0.58268	0.982	P	0.52598	0.703	T	0.55055	-0.8200	9	0.66056	D	0.02	.	20.3334	0.98727	0.0:1.0:0.0:0.0	.	1832	Q8TDW7-3	.	E	1832;1832;1682	ENSP00000298047:A1832E;ENSP00000387040:A1832E;ENSP00000432586:A1682E	ENSP00000298047:A1832E	A	+	2	0	FAT3	92171322	1.000000	0.71417	0.937000	0.37676	0.782000	0.44232	7.755000	0.85180	2.818000	0.97014	0.591000	0.81541	GCA		0.483	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		9	30	1	0	5.4927e-09	1	7.57356e-09	9	30				
C9	735	broad.mit.edu	37	5	39364602	39364602	+	De_novo_Start_InFrame	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:39364602G>T	ENST00000263408.4	-	0	60				C9_ENST00000509186.1_Intron	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9						complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TGGGGTGGCAGGGCAGGTCTG	0.512																																						ENST00000263408.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32								complement component 9							48.0	41.0	43.0					5																	39364602		2203	4300	6503			735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39364602G>T		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767		5.37:g.39364602G>T						C9_ENST00000509186.1_Intron		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	Epithelial(62;0.158)		0	60	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)							Translation_Start_Site	SNP	ENST00000263408.4	37		CCDS3929.1																																																																																				0.512	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			8	29	1	0	0.0381472	1	0.0391651	8	29				
ASRGL1	80150	broad.mit.edu	37	11	62124476	62124476	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:62124476G>A	ENST00000415229.2	+	4	566	c.351G>A	c.(349-351)ctG>ctA	p.L117L	ASRGL1_ENST00000301776.5_Silent_p.L117L|ASRGL1_ENST00000535727.1_5'UTR	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	117					asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	ATTGCTTTCTGACTGACCAAG	0.398																																						ENST00000415229.2																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(349-351)ctG>ctA		asparaginase like 1	L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)						48.0	53.0	51.0					11																	62124476		2202	4299	6501	SO:0001819	synonymous_variant	80150				asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr11:62124476G>A		CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"""asparaginase-like 1 protein"""	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.351G>A	11.37:g.62124476G>A						ASRGL1_ENST00000535727.1_5'UTR|ASRGL1_ENST00000301776.5_Silent_p.L117L	p.L117L	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN			4	566	+			117					B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Silent	SNP	ENST00000415229.2	37	c.351G>A	CCDS8019.1																																																																																				0.398	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394865.1	NM_001083926		8	75	0	0	0	1	0	8	75				
SPATA31A6	389730	broad.mit.edu	37	9	43625427	43625427	+	Missense_Mutation	SNP	G	G	T	rs577486423		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:43625427G>T	ENST00000332857.6	-	4	3288	c.3260C>A	c.(3259-3261)cCa>cAa	p.P1087Q	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1087					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTGACAGTTTGGGTTTCTGGG	0.512																																						ENST00000332857.6																			0											c.(3259-3261)cCa>cAa		SPATA31 subfamily A, member 6							14.0	12.0	13.0					9																	43625427		608	1516	2124	SO:0001583	missense	389730							g.chr9:43625427G>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3260C>A	9.37:g.43625427G>T	ENSP00000329825:p.Pro1087Gln						p.P1087Q	NM_001145196.1	NP_001138668.1					4	3288	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.3260C>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	8.481	0.859881	0.17178	.	.	ENSG00000185775	ENST00000332857	T	0.04083	3.71	2.31	1.34	0.21922	.	0.991596	0.08180	N	0.985582	T	0.12263	0.0298	M	0.65975	2.015	0.09310	N	1	P	0.46277	0.875	P	0.53549	0.729	T	0.23797	-1.0178	10	0.48119	T	0.1	.	6.1258	0.20177	0.0:0.0:0.6983:0.3017	.	1087	Q5VVP1	F75A6_HUMAN	Q	1087	ENSP00000329825:P1087Q	ENSP00000329825:P1087Q	P	-	2	0	FAM75A6	43565423	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.621000	0.05559	0.508000	0.28173	0.121000	0.15741	CCA		0.512	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		83	244	1	0	7.15876e-41	1	1.11451e-40	83	244				
CALCRL	10203	broad.mit.edu	37	2	188247909	188247909	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:188247909G>A	ENST00000409998.1	-	6	956	c.175C>T	c.(175-177)Caa>Taa	p.Q59*	AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Nonsense_Mutation_p.Q59*|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Nonsense_Mutation_p.Q59*			Q16602	CALRL_HUMAN	calcitonin receptor-like	59					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)			CCTTCTGCTTGTTGAATGGGG	0.343																																						ENST00000409998.1																			0				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32						c.(175-177)Caa>Taa		calcitonin receptor-like							190.0	179.0	183.0					2																	188247909		2203	4300	6503	SO:0001587	stop_gained	10203					integral to plasma membrane		g.chr2:188247909G>A	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.175C>T	2.37:g.188247909G>A	ENSP00000386972:p.Gln59*					AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Nonsense_Mutation_p.Q59*|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Nonsense_Mutation_p.Q59*	p.Q59*			Q16602	CALRL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)		6	956	-			59					A8K6G5|A8KAD3|Q53S02|Q53TS5	Nonsense_Mutation	SNP	ENST00000409998.1	37	c.175C>T	CCDS2293.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061378	0.93846	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068;ENST00000447403	.	.	.	5.78	4.83	0.62350	.	0.380726	0.21831	N	0.068463	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	10.3642	0.44012	0.0:0.0:0.7587:0.2413	.	.	.	.	X	59	.	ENSP00000376177:Q59X	Q	-	1	0	CALCRL	187956154	0.977000	0.34250	1.000000	0.80357	0.807000	0.45602	2.410000	0.44592	2.736000	0.93811	0.557000	0.71058	CAA		0.343	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795		10	98	0	0	0	1	0	10	98				
PCDH20	64881	broad.mit.edu	37	13	61987495	61987495	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:61987495G>T	ENST00000409186.1	-	5	2842	c.737C>A	c.(736-738)aCc>aAc	p.T246N	PCDH20_ENST00000409204.4_Missense_Mutation_p.T246N			Q8N6Y1	PCD20_HUMAN	protocadherin 20	246	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TAAGCGATAGGTCTGTACCCC	0.537																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(736-738)aCc>aAc		protocadherin 20							110.0	94.0	99.0					13																	61987495		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61987495G>T	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.737C>A	13.37:g.61987495G>T	ENSP00000386653:p.Thr246Asn					PCDH20_ENST00000409204.4_Missense_Mutation_p.T246N	p.T246N			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	2842	-		Breast(118;0.195)|Prostate(109;0.229)	219			Cadherin 2.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.737C>A	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	G	9.427	1.084517	0.20309	.	.	ENSG00000197991	ENST00000409204;ENST00000409186	T;T	0.53206	0.63;0.63	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000002	T	0.45776	0.1359	N	0.25245	0.725	0.58432	D	0.999999	D	0.54397	0.966	P	0.55303	0.773	T	0.15925	-1.0420	10	0.15066	T	0.55	.	14.4482	0.67367	0.0699:0.0:0.9301:0.0	.	246	A8K1K9	.	N	246	ENSP00000387250:T246N;ENSP00000386653:T246N	ENSP00000386653:T246N	T	-	2	0	PCDH20	60885496	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.606000	0.74159	2.813000	0.96785	0.655000	0.94253	ACC		0.537	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		21	88	1	0	1.96292e-10	1	2.79725e-10	21	88				
DGKA	1606	broad.mit.edu	37	12	56333089	56333089	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:56333089G>T	ENST00000331886.5	+	8	1048	c.594G>T	c.(592-594)atG>atT	p.M198I	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Splice_Site_p.M198I|DGKA_ENST00000394147.1_Splice_Site_p.M198I	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	198					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GTCTGGAGATGGTGAGTAGGA	0.562																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.e8+1		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						102.0	102.0	102.0					12																	56333089		2203	4300	6503	SO:0001630	splice_region_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56333089G>T	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.594+1G>T	12.37:g.56333089G>T						DGKA_ENST00000394147.1_Splice_Site_p.M198_splice|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Splice_Site_p.M198_splice	p.M198_splice	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN			8	1048	+			198					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Splice_Site	SNP	ENST00000331886.5	37	c.594_splice	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	G	7.514	0.655315	0.14580	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156	D;T;D;D	0.83837	-1.77;-0.19;-1.77;-1.77	4.79	3.89	0.44902	.	0.000000	0.47093	D	0.000242	T	0.70657	0.3249	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.22003	0.063;0.002;0.047;0.003	B;B;B;B	0.14023	0.01;0.008;0.008;0.002	T	0.68573	-0.5373	10	0.59425	D	0.04	.	11.01	0.47657	0.0:0.0:0.5426:0.4574	.	198;117;198;198	Q3ZE25;G3V4E1;B4E0C6;P23743	.;.;.;DGKA_HUMAN	I	198;117;198;198	ENSP00000328405:M198I;ENSP00000451743:M117I;ENSP00000377703:M198I;ENSP00000450359:M198I	ENSP00000328405:M198I	M	+	3	0	DGKA	54619356	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	2.383000	0.44354	1.380000	0.46344	-0.282000	0.10007	ATG		0.562	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1		Missense_Mutation	21	87	1	0	2.4624e-09	1	3.42447e-09	21	87				
MTMR4	9110	broad.mit.edu	37	17	56584607	56584607	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:56584607C>A	ENST00000323456.5	-	9	863	c.739G>T	c.(739-741)Gat>Tat	p.D247Y	MTMR4_ENST00000579925.1_Missense_Mutation_p.D247Y	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	247	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TACTCATCATCAGCATTGCGC	0.592																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(739-741)Gat>Tat		myotubularin related protein 4							53.0	52.0	52.0					17																	56584607		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56584607C>A	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.739G>T	17.37:g.56584607C>A	ENSP00000325285:p.Asp247Tyr					MTMR4_ENST00000579925.1_Missense_Mutation_p.D247Y	p.D247Y	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			9	863	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		247			Myotubularin phosphatase.		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.739G>T	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122926	0.94429	.	.	ENSG00000108389	ENST00000323456	D	0.90504	-2.68	5.39	5.39	0.77823	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.95887	0.8661	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96171	0.9123	10	0.87932	D	0	.	18.5543	0.91077	0.0:1.0:0.0:0.0	.	247	Q9NYA4	MTMR4_HUMAN	Y	247	ENSP00000325285:D247Y	ENSP00000325285:D247Y	D	-	1	0	MTMR4	53939606	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.713000	0.92767	0.644000	0.83932	GAT		0.592	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		12	61	1	0	6.40141e-05	1	7.46369e-05	12	61				
SLC6A12	6539	broad.mit.edu	37	12	319115	319115	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:319115G>A	ENST00000428720.1	-	3	781	c.38C>T	c.(37-39)cCt>cTt	p.P13L	SLC6A12_ENST00000359674.4_Missense_Mutation_p.P13L|SLC6A12_ENST00000424061.2_Missense_Mutation_p.P13L|SLC6A12_ENST00000397296.2_Missense_Mutation_p.P13L|SLC6A12_ENST00000536824.1_Missense_Mutation_p.P13L	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	13					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GGAGACTGCAGGAGGCCCACA	0.622																																						ENST00000428720.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26						c.(37-39)cCt>cTt		solute carrier family 6 (neurotransmitter transporter), member 12							89.0	79.0	82.0					12																	319115		2203	4300	6503	SO:0001583	missense	6539				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:319115G>A	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.38C>T	12.37:g.319115G>A	ENSP00000388184:p.Pro13Leu					SLC6A12_ENST00000536824.1_Missense_Mutation_p.P13L|SLC6A12_ENST00000424061.2_Missense_Mutation_p.P13L|SLC6A12_ENST00000397296.2_Missense_Mutation_p.P13L|SLC6A12_ENST00000359674.4_Missense_Mutation_p.P13L	p.P13L	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		3	781	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		13					A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	ENST00000428720.1	37	c.38C>T	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042230	0.35989	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824;ENST00000537793;ENST00000535347	T;T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.5;-0.28	5.41	5.41	0.78517	.	0.317553	0.25236	N	0.032121	T	0.55752	0.1940	N	0.19112	0.55	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.51560	-0.8690	10	0.56958	D	0.05	.	11.694	0.51532	0.0:0.0:0.7238:0.2762	.	13	P48065	S6A12_HUMAN	L	13	ENSP00000352702:P13L;ENSP00000380464:P13L;ENSP00000388184:P13L;ENSP00000399136:P13L;ENSP00000444268:P13L;ENSP00000439351:P13L;ENSP00000446082:P13L	ENSP00000352702:P13L	P	-	2	0	SLC6A12	189376	0.924000	0.31332	0.020000	0.16555	0.069000	0.16628	2.155000	0.42301	2.531000	0.85337	0.563000	0.77884	CCT		0.622	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		10	65	0	0	0	1	0	10	65				
LRRC37A16P	651250	broad.mit.edu	37	17	66126605	66126605	+	RNA	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:66126605A>G	ENST00000590019.1	-	0	298									leucine rich repeat containing 37, member A16, pseudogene																		AGGAACCAGAAGGGCAATGGG	0.517																																						ENST00000590019.1																			0																																																			651250							g.chr17:66126605A>G			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66126605A>G														0	298	-									RNA	SNP	ENST00000590019.1	37																																																																																						0.517	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			6	21	0	0	0	1	0	6	21				
PLXNB3	5365	broad.mit.edu	37	X	153042340	153042340	+	Splice_Site	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:153042340A>T	ENST00000361971.5	+	29	4947		c.e29-1		SRPK3_ENST00000489426.1_Splice_Site|PLXNB3_ENST00000538966.1_Splice_Site|PLXNB3_ENST00000538776.1_Splice_Site	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3						axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCTCTGCCAGGTCCCAGAT	0.692																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.e30-1		plexin B3							28.0	27.0	27.0					X																	153042340		2193	4290	6483	SO:0001630	splice_region_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153042340A>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.4834-1A>T	X.37:g.153042340A>T						SRPK3_ENST00000489426.1_Splice_Site|PLXNB3_ENST00000538776.1_Splice_Site|PLXNB3_ENST00000361971.5_Splice_Site		NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			30	5173	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)							B7Z3E6|F5H773|Q9HDA4	Splice_Site	SNP	ENST00000361971.5	37		CCDS14729.1	.	.	.	.	.	.	.	.	.	.	A	14.33	2.501794	0.44455	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000411613;ENST00000455214	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8571	0.57892	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLXNB3	152695534	1.000000	0.71417	0.979000	0.43373	0.240000	0.25518	8.261000	0.89860	1.744000	0.51775	0.430000	0.28490	.		0.692	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1		Intron	3	5	0	0	0	1	0	3	5				
LRBA	987	broad.mit.edu	37	4	151388886	151388886	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:151388886G>T	ENST00000357115.3	-	45	6995	c.6752C>A	c.(6751-6753)aCt>aAt	p.T2251N	LRBA_ENST00000535741.1_Missense_Mutation_p.T2240N|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Missense_Mutation_p.T2240N|LRBA_ENST00000507224.1_Missense_Mutation_p.T2240N	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2251	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTCATAATTAGTGATGACCCA	0.333																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(6718-6720)aCt>aAt		LPS-responsive vesicle trafficking, beach and anchor containing							121.0	114.0	116.0					4																	151388886		2203	4299	6502	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151388886G>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6752C>A	4.37:g.151388886G>T	ENSP00000349629:p.Thr2251Asn					LRBA_ENST00000510413.1_Missense_Mutation_p.T2240N|LRBA_ENST00000507224.1_Missense_Mutation_p.T2240N|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000357115.3_Missense_Mutation_p.T2251N	p.T2240N			P50851	LRBA_HUMAN			44	7192	-	all_hematologic(180;0.151)		2251			BEACH.		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.6719C>A	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.4|28.4	4.921133|4.921133	0.92249|0.92249	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.|T;T;T;T	.|0.63255	.|-0.03;-0.03;-0.03;-0.03	5.16|5.16	5.16|5.16	0.70880|0.70880	.|BEACH domain (4);	.|0.240850	.|0.41712	.|D	.|0.000822	T|T	0.77458|0.77458	0.4133|0.4133	L|L	0.60845|0.60845	1.875|1.875	0.80722|0.80722	D|D	1|1	.|D;B;D	.|0.76494	.|0.999;0.447;0.977	.|D;P;D	.|0.87578	.|0.998;0.496;0.942	T|T	0.78949|0.78949	-0.2002|-0.2002	5|10	.|0.66056	.|D	.|0.02	.|.	19.0142|19.0142	0.92888|0.92888	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2251;2240;141	.|P50851;P50851-2;Q68D03	.|LRBA_HUMAN;.;.	I|N	893|2240;2240;2251;2240	.|ENSP00000446299:T2240N;ENSP00000421552:T2240N;ENSP00000349629:T2251N;ENSP00000422180:T2240N	.|ENSP00000349629:T2251N	L|T	-|-	1|2	2|0	LRBA|LRBA	151608336|151608336	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.789000|9.789000	0.99068|0.99068	2.549000|2.549000	0.85964|0.85964	0.585000|0.585000	0.79938|0.79938	CTA|ACT		0.333	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			8	61	1	0	0.00448238	1	0.00481618	8	61				
CEACAM18	729767	broad.mit.edu	37	19	51981922	51981922	+	Missense_Mutation	SNP	G	G	T	rs369954686		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:51981922G>T	ENST00000396477.4	+	1	47	c.26G>T	c.(25-27)aGc>aTc	p.S9I	CEACAM18_ENST00000451626.1_Missense_Mutation_p.S70I	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	9										breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCCAGATGGAGCCTGTGGAGG	0.622																																						ENST00000396477.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17						c.(25-27)aGc>aTc		carcinoembryonic antigen-related cell adhesion molecule 18							30.0	33.0	32.0					19																	51981922		1955	4157	6112	SO:0001583	missense	729767					integral to membrane		g.chr19:51981922G>T			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.26G>T	19.37:g.51981922G>T	ENSP00000379738:p.Ser9Ile					CEACAM18_ENST00000451626.1_Missense_Mutation_p.S70I	p.S9I	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	47	+		all_neural(266;0.0529)	70					C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37	c.26G>T		.	.	.	.	.	.	.	.	.	.	.	12.65	2.000644	0.35320	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.06142	3.34	2.8	0.664	0.17890	.	.	.	.	.	T	0.03434	0.0099	N	0.19112	0.55	0.09310	N	1	P	0.46020	0.871	B	0.39935	0.314	T	0.40961	-0.9535	9	0.17369	T	0.5	-0.3536	4.74	0.13008	0.3039:0.0:0.6961:0.0	.	70	A8MTB9	CEA18_HUMAN	I	70;9;9	ENSP00000402203:S70I	ENSP00000379738:S9I	S	+	2	0	CEACAM18	56673734	0.001000	0.12720	0.002000	0.10522	0.015000	0.08874	0.567000	0.23608	0.267000	0.21916	0.655000	0.94253	AGC		0.622	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			5	29	1	0	0.014758	1	0.0154462	5	29				
CHL1	10752	broad.mit.edu	37	3	424202	424202	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:424202G>T	ENST00000256509.2	+	18	2666	c.2024G>T	c.(2023-2025)tGg>tTg	p.W675L	CHL1_ENST00000397491.2_Missense_Mutation_p.W659L|CHL1-AS1_ENST00000417612.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CCTGGAAGGTGGGAGGAACTG	0.393																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(2023-2025)tGg>tTg		cell adhesion molecule L1-like							95.0	110.0	105.0					3																	424202		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:424202G>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2024G>T	3.37:g.424202G>T	ENSP00000256509:p.Trp675Leu					CHL1_ENST00000397491.2_Missense_Mutation_p.W659L|CHL1-AS1_ENST00000417612.1_RNA	p.W675L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	18	2666	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	659			Fibronectin type-III 1.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.2024G>T	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479754	0.84747	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.57907	0.37;0.37	4.86	4.86	0.63082	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78489	0.4291	M	0.90542	3.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;0.993;1.0	D	0.83710	0.0187	10	0.72032	D	0.01	.	18.3442	0.90315	0.0:0.0:1.0:0.0	.	659;659;675	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	L	675;659	ENSP00000256509:W675L;ENSP00000380628:W659L	ENSP00000256509:W675L	W	+	2	0	CHL1	399202	1.000000	0.71417	0.992000	0.48379	0.823000	0.46562	9.067000	0.93955	2.396000	0.81511	0.591000	0.81541	TGG		0.393	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		7	89	1	0	0.00307968	1	0.00332671	7	89				
RPLP0P6	220717	broad.mit.edu	37	2	38709678	38709678	+	lincRNA	SNP	C	C	T	rs372176824		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:38709678C>T	ENST00000417039.1	-	0	696																											TGTCTGCAGACTGGCTACCCA	0.512																																						ENST00000417039.1																			0																																																			220717							g.chr2:38709678C>T																													2.37:g.38709678C>T														0	696	-									RNA	SNP	ENST00000417039.1	37																																																																																						0.512	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			20	61	0	0	0	1	0	20	61				
EPAS1	2034	broad.mit.edu	37	2	46602956	46602956	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:46602956G>T	ENST00000263734.3	+	8	1524	c.1014G>T	c.(1012-1014)atG>atT	p.M338I		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	338	PAC.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AGTGCATCATGTGTGTCAACT	0.612																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1012-1014)atG>atT		endothelial PAS domain protein 1							130.0	105.0	114.0					2																	46602956		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46602956G>T	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1014G>T	2.37:g.46602956G>T	ENSP00000263734:p.Met338Ile						p.M338I	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		8	1524	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	338			PAC.		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.1014G>T	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.540558	0.45176	.	.	ENSG00000116016	ENST00000263734	T	0.21031	2.03	5.45	3.58	0.41010	PAS fold-3 (1);	0.112991	0.64402	D	0.000006	T	0.06416	0.0165	N	0.00313	-1.665	0.42809	D	0.993954	B	0.02656	0.0	B	0.04013	0.001	T	0.18808	-1.0325	10	0.49607	T	0.09	.	14.2679	0.66133	0.0:0.5896:0.4104:0.0	.	338	Q99814	EPAS1_HUMAN	I	338	ENSP00000263734:M338I	ENSP00000263734:M338I	M	+	3	0	EPAS1	46456460	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	1.701000	0.37825	1.292000	0.44672	0.655000	0.94253	ATG		0.612	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		11	86	1	0	1.61879e-10	1	2.31502e-10	11	86				
OTOL1	131149	broad.mit.edu	37	3	161217019	161217019	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:161217019A>T	ENST00000327928.4	+	2	425	c.425A>T	c.(424-426)cAa>cTa	p.Q142L		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	142	Collagen-like 1.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GTTGGGCCCCAAGGCCCTAGA	0.428																																						ENST00000327928.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						c.(424-426)cAa>cTa		otolin 1							42.0	45.0	44.0					3																	161217019		1828	4076	5904	SO:0001583	missense	131149					collagen		g.chr3:161217019A>T		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.425A>T	3.37:g.161217019A>T	ENSP00000330808:p.Gln142Leu						p.Q142L	NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN			2	425	+			142			Collagen-like 1.			Missense_Mutation	SNP	ENST00000327928.4	37	c.425A>T	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.378507	0.42207	.	.	ENSG00000182447	ENST00000327928	D	0.92545	-3.06	5.55	-0.152	0.13407	.	0.456739	0.23296	N	0.049733	D	0.87087	0.6090	L	0.50847	1.595	0.09310	N	0.999994	B	0.10296	0.003	B	0.15052	0.012	T	0.77429	-0.2591	10	0.41790	T	0.15	.	9.6933	0.40143	0.4016:0.4942:0.0:0.1042	.	142	A6NHN0	OTOL1_HUMAN	L	142	ENSP00000330808:Q142L	ENSP00000330808:Q142L	Q	+	2	0	OTOL1	162699713	0.637000	0.27216	0.970000	0.41538	0.946000	0.59487	0.877000	0.28106	0.362000	0.24319	-0.323000	0.08544	CAA		0.428	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		9	19	0	0	0	1	0	9	19				
FAM20B	9917	broad.mit.edu	37	1	179033207	179033207	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:179033207G>C	ENST00000263733.4	+	5	1056	c.720G>C	c.(718-720)agG>agC	p.R240S		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	240						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						CATGGGGCAGGACTTACCGAG	0.527																																						ENST00000263733.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						c.(718-720)agG>agC		family with sequence similarity 20, member B							109.0	103.0	105.0					1																	179033207		2203	4300	6503	SO:0001583	missense	9917					Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:179033207G>C	AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"""glycosaminoglycan xylosylkinase"""	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.720G>C	1.37:g.179033207G>C	ENSP00000263733:p.Arg240Ser						p.R240S	NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN			5	1056	+			240					Q5W0C3|Q5W0C4	Missense_Mutation	SNP	ENST00000263733.4	37	c.720G>C	CCDS1328.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835272	0.71373	.	.	ENSG00000116199	ENST00000263733	D	0.83419	-1.72	5.48	0.281	0.15687	.	0.000000	0.85682	D	0.000000	D	0.89986	0.6874	M	0.87900	2.915	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	D	0.88290	0.2942	10	0.87932	D	0	-55.7349	9.2142	0.37337	0.3697:0.0:0.6303:0.0	.	240	O75063	XYLK_HUMAN	S	240	ENSP00000263733:R240S	ENSP00000263733:R240S	R	+	3	2	FAM20B	177299830	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.068000	0.41471	0.005000	0.14708	0.655000	0.94253	AGG		0.527	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084922.1	NM_014864		16	92	0	0	0	1	0	16	92				
HS3ST4	9951	broad.mit.edu	37	16	25704371	25704371	+	Silent	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:25704371C>G	ENST00000331351.5	+	1	1025	c.633C>G	c.(631-633)cgC>cgG	p.R211R		NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	211					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GAGGGACCCGCGCGCTGCTGG	0.662																																						ENST00000331351.5																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15						c.(631-633)cgC>cgG		heparan sulfate (glucosamine) 3-O-sulfotransferase 4							17.0	21.0	20.0					16																	25704371		1968	4142	6110	SO:0001819	synonymous_variant	9951				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:25704371C>G	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.633C>G	16.37:g.25704371C>G							p.R211R	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	1	1025	+			211					Q5QI42|Q8NDC2	Silent	SNP	ENST00000331351.5	37	c.633C>G	CCDS53995.1																																																																																				0.662	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		4	21	0	0	0	1	0	4	21				
TRAV8-6	28680	broad.mit.edu	37	14	22446778	22446778	+	RNA	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:22446778A>T	ENST00000390443.3	+	0	80									T cell receptor alpha variable 8-6																		CTTAAGGGAAAGCCTCTTTCT	0.517											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000390443.3																			0																																																			28680							g.chr14:22446778A>T	X02850		14q11.2	2012-02-07			ENSG00000211795	ENSG00000211795		"""T cell receptors / TRA locus"""	12151	other	T cell receptor gene						8206523, 2993909	Standard	NG_001332		Approved				OTTHUMG00000170641		14.37:g.22446778A>T			OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	756									0	80	+									RNA	SNP	ENST00000390443.3	37																																																																																						0.517	TRAV8-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409889.1	NG_001332		5	27	0	0	0	1	0	5	27				
PAPPA2	60676	broad.mit.edu	37	1	176760565	176760565	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:176760565C>A	ENST00000367662.3	+	19	6131	c.4967C>A	c.(4966-4968)cCc>cAc	p.P1656H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1656	Poly-Pro.|Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGCCCACCACCCCCCTCAGAG	0.428																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(4966-4968)cCc>cAc		pappalysin 2							88.0	87.0	87.0					1																	176760565		1904	4111	6015	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176760565C>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4967C>A	1.37:g.176760565C>A	ENSP00000356634:p.Pro1656His						p.P1656H	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			19	6131	+			1656			Poly-Pro.|Sushi 5.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4967C>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339241	0.60963	.	.	ENSG00000116183	ENST00000367662	T	0.02258	4.37	4.78	2.81	0.32909	.	0.119316	0.64402	D	0.000020	T	0.09818	0.0241	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.00763	-1.1576	10	0.87932	D	0	-5.777	7.6103	0.28126	0.0:0.7422:0.1656:0.0922	.	1656	Q9BXP8	PAPP2_HUMAN	H	1656	ENSP00000356634:P1656H	ENSP00000356634:P1656H	P	+	2	0	PAPPA2	175027188	0.969000	0.33509	0.861000	0.33841	0.907000	0.53573	2.564000	0.45931	1.220000	0.43490	0.655000	0.94253	CCC		0.428	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			17	44	1	0	3.41278e-10	1	4.8548e-10	17	44				
KCNK4	50801	broad.mit.edu	37	11	64067024	64067024	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:64067024C>A	ENST00000539216.1	+	6	1368	c.1008C>A	c.(1006-1008)gcC>gcA	p.A336A	RP11-783K16.10_ENST00000539086.1_RNA|TEX40_ENST00000539943.1_5'Flank|KCNK4_ENST00000422670.2_Silent_p.A336A|KCNK4_ENST00000538767.1_Missense_Mutation_p.P221T|TEX40_ENST00000328404.6_5'Flank|KCNK4_ENST00000394525.2_Silent_p.A336A			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	336					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						CGGCCTCGGCCCTGGATTATC	0.736																																						ENST00000538767.1																			0				breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						c.(661-663)Cct>Act		potassium channel, subfamily K, member 4							24.0	30.0	28.0					11																	64067024		2183	4266	6449	SO:0001819	synonymous_variant	50801					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:64067024C>A	AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.1008C>A	11.37:g.64067024C>A						KCNK4_ENST00000539216.1_Silent_p.A336A|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000394525.2_Silent_p.A336A|KCNK4_ENST00000422670.2_Silent_p.A336A	p.P221T			Q9NYG8	KCNK4_HUMAN			6	913	+			316					B5TJL1|Q96T94	Missense_Mutation	SNP	ENST00000539216.1	37	c.661C>A	CCDS8067.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818045	0.50633	.	.	ENSG00000182450	ENST00000538767	.	.	.	4.28	1.31	0.21738	.	.	.	.	.	T	0.37210	0.0995	.	.	.	0.80722	D	1	B	0.33583	0.418	B	0.27796	0.083	T	0.16512	-1.0400	7	0.87932	D	0	.	5.1135	0.14821	0.0:0.3375:0.4286:0.234	.	221	F5GYE0	.	T	221	.	ENSP00000446454:P221T	P	+	1	0	KCNK4	63823600	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	0.960000	0.29253	0.095000	0.17434	0.561000	0.74099	CCT		0.736	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396430.1	NM_033311		10	60	1	0	2.80697e-09	1	3.89028e-09	10	60				
EEA1	8411	broad.mit.edu	37	12	93171788	93171788	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:93171788T>A	ENST00000322349.8	-	26	4086	c.3822A>T	c.(3820-3822)ttA>ttT	p.L1274F		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1274					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TTTCACCCCGTAAGTCATCCG	0.383																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(3820-3822)ttA>ttT		early endosome antigen 1							222.0	203.0	209.0					12																	93171788		2203	4300	6503	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93171788T>A	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.3822A>T	12.37:g.93171788T>A	ENSP00000317955:p.Leu1274Phe						p.L1274F	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN			26	4086	-			1274					Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.3822A>T	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	T	15.37	2.813067	0.50527	.	.	ENSG00000102189	ENST00000322349	T	0.70986	-0.53	5.61	-2.3	0.06785	.	0.000000	0.38326	N	0.001723	T	0.58104	0.2099	L	0.36672	1.1	0.58432	D	0.999992	P	0.47350	0.894	P	0.48304	0.573	T	0.54132	-0.8339	10	0.59425	D	0.04	.	3.7146	0.08433	0.1206:0.415:0.1245:0.3399	.	1274	Q15075	EEA1_HUMAN	F	1274	ENSP00000317955:L1274F	ENSP00000317955:L1274F	L	-	3	2	EEA1	91695919	1.000000	0.71417	0.987000	0.45799	0.052000	0.14988	0.773000	0.26661	-0.414000	0.07495	-0.361000	0.07541	TTA		0.383	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		18	124	0	0	0	1	0	18	124				
TTN	7273	broad.mit.edu	37	2	179599097	179599097	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:179599097C>A	ENST00000591111.1	-	50	14727	c.14503G>T	c.(14503-14505)Gaa>Taa	p.E4835*	TTN_ENST00000342992.6_Nonsense_Mutation_p.E3908*|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.E5152*|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12218	Ig-like 28.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGCCGACTTCATTAGCAACA	0.368																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(15454-15456)Gaa>Taa		titin							175.0	166.0	169.0					2																	179599097		1916	4120	6036	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179599097C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14503G>T	2.37:g.179599097C>A	ENSP00000465570:p.Glu4835*					TTN_ENST00000342992.6_Nonsense_Mutation_p.E3908*|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.E4835*|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA	p.E5152*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		52	15678	-			4835			Ig-like 32.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.15454G>T		.	.	.	.	.	.	.	.	.	.	C	54	22.294335	0.99947	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1931	0.98233	0.0:1.0:0.0:0.0	.	.	.	.	X	3908	.	ENSP00000343764:E3908X	E	-	1	0	TTN	179307342	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	7.487000	0.81328	2.771000	0.95319	0.563000	0.77884	GAA		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	139	1	0	3.6726e-16	1	5.64156e-16	25	139				
LRRIQ1	84125	broad.mit.edu	37	12	85518156	85518156	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:85518156G>T	ENST00000393217.2	+	17	3927	c.3866G>T	c.(3865-3867)aGa>aTa	p.R1289I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1289										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATGGAAGGAAGACATCAGGAA	0.428																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(3865-3867)aGa>aTa		leucine-rich repeats and IQ motif containing 1							143.0	151.0	148.0					12																	85518156		2203	4300	6503	SO:0001583	missense	84125							g.chr12:85518156G>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3866G>T	12.37:g.85518156G>T	ENSP00000376910:p.Arg1289Ile						p.R1289I	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	17	3927	+			1289					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.3866G>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358294	0.41801	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.54279	0.58	5.62	0.504	0.16946	.	0.759134	0.11604	N	0.547507	T	0.33206	0.0855	L	0.27053	0.805	0.09310	N	0.999998	P;P	0.51933	0.868;0.949	B;B	0.43331	0.289;0.416	T	0.22243	-1.0222	10	0.45353	T	0.12	.	0.612	0.00763	0.3565:0.1675:0.3048:0.1711	.	1289;1264	Q96JM4;C9JI57	LRIQ1_HUMAN;.	I	1289;1264;1289	ENSP00000376910:R1289I	ENSP00000256007:R1289I	R	+	2	0	LRRIQ1	84042287	0.000000	0.05858	0.399000	0.26333	0.405000	0.30901	0.006000	0.13152	0.733000	0.32492	0.585000	0.79938	AGA		0.428	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		29	173	1	0	7.26314e-15	1	1.1052e-14	29	173				
SEC16B	89866	broad.mit.edu	37	1	177928091	177928091	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:177928091C>T	ENST00000308284.6	-	9	1107	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.D341N	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	340					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GTCATAATATCCACCTTATGT	0.498																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(1018-1020)Gat>Aat		SEC16 homolog B (S. cerevisiae)							53.0	52.0	53.0					1																	177928091		1909	4129	6038	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177928091C>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1018G>A	1.37:g.177928091C>T	ENSP00000308339:p.Asp340Asn					SEC16B_ENST00000464631.1_Missense_Mutation_p.D341N|RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	p.D340N	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			9	1107	-			340					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.1018G>A	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635048	0.87760	.	.	ENSG00000120341	ENST00000308284;ENST00000239472;ENST00000464631	T;T	0.51817	0.69;0.69	5.08	5.08	0.68730	Sec16, central conserved domain (1);	0.000000	0.64402	D	0.000002	T	0.69324	0.3098	M	0.72118	2.19	0.51767	D	0.999932	D;D;P	0.89917	1.0;1.0;0.877	D;D;P	0.97110	1.0;1.0;0.809	T	0.72937	-0.4140	10	0.87932	D	0	-22.1794	18.4342	0.90638	0.0:1.0:0.0:0.0	.	341;341;340	E9PK14;B1AM08;Q96JE7	.;.;SC16B_HUMAN	N	340;55;341	ENSP00000308339:D340N;ENSP00000431727:D341N	ENSP00000239472:D55N	D	-	1	0	AL359075.1	176194714	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.671000	0.54576	2.517000	0.84864	0.655000	0.94253	GAT		0.498	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		5	17	0	0	0	1	0	5	17				
HNMT	3176	broad.mit.edu	37	2	138771667	138771667	+	Silent	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:138771667T>C	ENST00000280097.3	+	6	1028	c.846T>C	c.(844-846)aaT>aaC	p.N282N	HNMT_ENST00000410115.1_Silent_p.N282N	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	282					brain development (GO:0007420)|hyperosmotic response (GO:0006972)|respiratory gaseous exchange (GO:0007585)|response to amine (GO:0014075)|response to cocaine (GO:0042220)|response to glucocorticoid (GO:0051384)|response to interleukin-1 (GO:0070555)|response to tumor cell (GO:0002347)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	histamine N-methyltransferase activity (GO:0046539)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Chlorhexidine(DB00878)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	TTCTTTTTAATAATACTCTGA	0.348																																						ENST00000280097.3																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(844-846)aaT>aaC		histamine N-methyltransferase	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)						89.0	94.0	92.0					2																	138771667		2203	4300	6503	SO:0001819	synonymous_variant	3176				respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity	g.chr2:138771667T>C		CCDS2181.1, CCDS33296.1, CCDS33297.1	2q22.1	2008-02-05			ENSG00000150540	ENSG00000150540	2.1.1.8		5028	protein-coding gene	gene with protein product		605238					Standard	NM_001024074		Approved		uc002tvf.3	P50135	OTTHUMG00000131751	ENST00000280097.3:c.846T>C	2.37:g.138771667T>C						HNMT_ENST00000410115.1_Silent_p.N282N	p.N282N	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.125)	6	1028	+			282					B2R9J3|Q546Z6|Q7Z7I2|Q8IU56|Q8WW98|Q9BRW6	Silent	SNP	ENST00000280097.3	37	c.846T>C	CCDS2181.1																																																																																				0.348	HNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254673.1			27	89	0	0	0	1	0	27	89				
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1459	Whole gene deletion(1316)|Substitution - Nonsense(78)|Unknown(45)|Deletion - Frameshift(10)|Deletion - In frame(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Substitution - coding silent(1)|Complex - compound substitution(1)	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)	haematopoietic_and_lymphoid_tissue(284)|skin(201)|central_nervous_system(167)|lung(154)|urinary_tract(94)|upper_aerodigestive_tract(78)|bone(74)|oesophagus(65)|soft_tissue(58)|pleura(51)|ovary(38)|pancreas(37)|kidney(32)|breast(32)|stomach(14)|thyroid(13)|NS(12)|biliary_tract(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|endometrium(3)|vulva(2)|prostate(2)|cervix(1)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM940227	CDKN2A	M	rs121913387	c.(172-174)Cga>Tga		cyclin-dependent kinase inhibitor 2A							7.0	9.0	8.0					9																	21971186		2034	4092	6126	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971186G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.172C>T	9.37:g.21971186G>A	ENSP00000307101:p.Arg58*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*	p.R58*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	442	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	58		R -> Q (in dbSNP:rs36204273).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.172C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.893482|4.893482	0.91889|0.91889	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|.	0.75367|.	-0.93;-0.89|.	5.79|5.79	2.71|2.71	0.32032|0.32032	.|.	0.409080|.	0.18162|.	N|.	0.149742|.	T|.	0.29288|.	0.0729|.	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P|.	0.44006|.	0.824|.	B|.	0.33121|.	0.158|.	T|.	0.21381|.	-1.0247|.	10|.	0.72032|0.13470	D|T	0.01|0.59	-3.0019|-3.0019	9.6681|9.6681	0.39996|0.39996	0.0:0.1288:0.474:0.3972|0.0:0.1288:0.474:0.3972	.|.	113|.	Q8N726|.	CD2A2_HUMAN|.	L|X	113;72|58	ENSP00000355153:P113L;ENSP00000432664:P72L|.	ENSP00000355153:P113L|ENSP00000307101:R58X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961186|21961186	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.277000|0.277000	0.26821|0.26821	0.096000|0.096000	0.15147|0.15147	0.738000|0.738000	0.32606|0.32606	0.555000|0.555000	0.69702|0.69702	CCG|CGA		0.677	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		3	17	0	0	0	1	0	3	17				
ADD2	119	broad.mit.edu	37	2	70919654	70919654	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:70919654C>G	ENST00000264436.4	-	7	1030	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000430656.1_Missense_Mutation_p.E212Q|ADD2_ENST00000413157.2_Missense_Mutation_p.E196Q|ADD2_ENST00000355733.3_Missense_Mutation_p.E196Q|ADD2_ENST00000407644.2_Missense_Mutation_p.E196Q	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	196					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CTGCCCTTCTCCACCACCTCT	0.612																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(586-588)Gag>Cag		adducin 2 (beta)							92.0	75.0	81.0					2																	70919654		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70919654C>G	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.586G>C	2.37:g.70919654C>G	ENSP00000264436:p.Glu196Gln					ADD2_ENST00000355733.3_Missense_Mutation_p.E196Q|ADD2_ENST00000430656.1_Missense_Mutation_p.E212Q|ADD2_ENST00000413157.2_Missense_Mutation_p.E196Q|ADD2_ENST00000407644.2_Missense_Mutation_p.E196Q	p.E196Q	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			7	1030	-			196					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.586G>C	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	C	33	5.290164	0.95546	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656;ENST00000415348	T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71	4.97	4.97	0.65823	Class II aldolase/adducin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.46718	0.1407	L	0.55481	1.735	0.80722	D	1	P;P;P;D	0.76494	0.943;0.749;0.883;0.999	P;B;P;D	0.81914	0.74;0.406;0.688;0.995	T	0.42965	-0.9420	10	0.87932	D	0	-28.6883	15.7695	0.78157	0.0:1.0:0.0:0.0	.	212;196;196;196	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	Q	196;196;196;196;196;196;212;196	ENSP00000264436:E196Q;ENSP00000384677:E196Q;ENSP00000347972:E196Q;ENSP00000388072:E196Q;ENSP00000398112:E212Q;ENSP00000412357:E196Q	ENSP00000264436:E196Q	E	-	1	0	ADD2	70773162	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.488000	0.81441	2.567000	0.86603	0.563000	0.77884	GAG		0.612	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		5	29	0	0	0	1	0	5	29				
IL27RA	9466	broad.mit.edu	37	19	14150441	14150441	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:14150441C>G	ENST00000263379.2	+	3	465	c.340C>G	c.(340-342)Ctc>Gtc	p.L114V		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	114					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						AGGCCAGCCTCTCTGGCCCCC	0.622																																					Colon(164;1849 1896 4443 37792 47834)	ENST00000263379.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(340-342)Ctc>Gtc		interleukin 27 receptor, alpha							60.0	59.0	59.0					19																	14150441		2203	4300	6503	SO:0001583	missense	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14150441C>G	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.340C>G	19.37:g.14150441C>G	ENSP00000263379:p.Leu114Val						p.L114V	NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN			3	465	+			114					A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	c.340C>G	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	C	9.547	1.115001	0.20795	.	.	ENSG00000104998	ENST00000263379	T	0.62105	0.05	4.54	1.22	0.21188	.	0.216371	0.21818	N	0.068661	T	0.40979	0.1139	L	0.36672	1.1	0.09310	N	1	P	0.41673	0.759	B	0.35413	0.202	T	0.21177	-1.0253	10	0.31617	T	0.26	-17.8748	4.1598	0.10278	0.0:0.596:0.1951:0.209	.	114	Q6UWB1	I27RA_HUMAN	V	114	ENSP00000263379:L114V	ENSP00000263379:L114V	L	+	1	0	IL27RA	14011441	0.004000	0.15560	0.073000	0.20177	0.599000	0.36880	0.171000	0.16685	0.637000	0.30526	0.555000	0.69702	CTC		0.622	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		8	85	0	0	0	1	0	8	85				
RSAD2	91543	broad.mit.edu	37	2	7018191	7018191	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:7018191G>A	ENST00000382040.3	+	1	396	c.260G>A	c.(259-261)tGc>tAc	p.C87Y	RSAD2_ENST00000541728.1_5'Flank	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2											endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		AACTACAAATGCGGCTTCTGT	0.522																																						ENST00000382040.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20						c.(259-261)tGc>tAc		radical S-adenosyl methionine domain containing 2							144.0	125.0	131.0					2																	7018191		2203	4300	6503	SO:0001583	missense	91543				defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	g.chr2:7018191G>A	AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.260G>A	2.37:g.7018191G>A	ENSP00000371471:p.Cys87Tyr						p.C87Y	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.191)	1	396	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		87						Missense_Mutation	SNP	ENST00000382040.3	37	c.260G>A	CCDS1656.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687951	0.88639	.	.	ENSG00000134321	ENST00000382040	D	0.99982	-10.61	5.51	5.51	0.81932	Elongator protein 3/MiaB/NifB (1);Radical SAM (1);	0.120594	0.85682	D	0.000000	D	0.99984	0.9995	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.98559	1.0640	10	0.87932	D	0	-35.8589	19.7916	0.96461	0.0:0.0:1.0:0.0	.	87	Q8WXG1	RSAD2_HUMAN	Y	87	ENSP00000371471:C87Y	ENSP00000371471:C87Y	C	+	2	0	RSAD2	6935642	1.000000	0.71417	0.975000	0.42487	0.983000	0.72400	8.553000	0.90686	2.764000	0.94973	0.557000	0.71058	TGC		0.522	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		5	56	0	0	0	1	0	5	56				
MUC16	94025	broad.mit.edu	37	19	9069845	9069845	+	Silent	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:9069845A>G	ENST00000397910.4	-	3	17804	c.17601T>C	c.(17599-17601)ccT>ccC	p.P5867P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5869	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGTCCCTATAGGACCTGTTT	0.493																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(17599-17601)ccT>ccC		mucin 16, cell surface associated							197.0	182.0	187.0					19																	9069845		1941	4147	6088	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069845A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17601T>C	19.37:g.9069845A>G							p.P5867P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	17804	-			5869			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.17601T>C	CCDS54212.1																																																																																				0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		33	115	0	0	0	1	0	33	115				
IGHV3-33	28434	broad.mit.edu	37	14	106815887	106815887	+	RNA	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:106815887C>T	ENST00000390615.2	-	0	265									immunoglobulin heavy variable 3-33																		ACTCCAGCCCCTTGCCTGGAG	0.547																																						ENST00000390615.2																			0																				112.0	121.0	118.0					14																	106815887		1908	4076	5984			28434							g.chr14:106815887C>T	L06618		14q32.33	2012-02-10			ENSG00000211955	ENSG00000211955		"""Immunoglobulins / IGH locus"""	5596	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152077		14.37:g.106815887C>T														0	265	-									RNA	SNP	ENST00000390615.2	37																																																																																						0.547	IGHV3-33-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325171.1	NG_001019		8	158	0	0	0	1	0	8	158				
MUC16	94025	broad.mit.edu	37	19	9068843	9068843	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:9068843G>A	ENST00000397910.4	-	3	18806	c.18603C>T	c.(18601-18603)aaC>aaT	p.N6201N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6203	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAGATCATTGTTCATGACAC	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(18601-18603)aaC>aaT		mucin 16, cell surface associated							115.0	118.0	117.0					19																	9068843		2080	4192	6272	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9068843G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18603C>T	19.37:g.9068843G>A							p.N6201N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	18806	-			6203			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.18603C>T	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	84	0	0	0	1	0	15	84				
TBC1D17	79735	broad.mit.edu	37	19	50386922	50386922	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:50386922G>A	ENST00000221543.5	+	10	1345	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	TBC1D17_ENST00000535102.2_Missense_Mutation_p.R316H	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	349	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GAGTATTTCCGCATGAAGCTG	0.577																																						ENST00000221543.5																			0				NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1045-1047)cGc>cAc		TBC1 domain family, member 17							113.0	88.0	97.0					19																	50386922		2203	4300	6503	SO:0001583	missense	79735					intracellular	Rab GTPase activator activity	g.chr19:50386922G>A	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1046G>A	19.37:g.50386922G>A	ENSP00000221543:p.Arg349His					TBC1D17_ENST00000535102.2_Missense_Mutation_p.R316H	p.R349H	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	10	1345	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	349			Rab-GAP TBC.		B4DT12|B9A6L8|F5H1W7	Missense_Mutation	SNP	ENST00000221543.5	37	c.1046G>A	CCDS12785.1	.	.	.	.	.	.	.	.	.	.	G	35	5.440259	0.96168	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.11604	2.76;2.76	5.57	5.57	0.84162	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.37652	0.1011	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.67900	0.954;0.932	T	0.24764	-1.0151	10	0.72032	D	0.01	-19.4333	17.0326	0.86465	0.0:0.0:1.0:0.0	.	316;349	F5H1W7;Q9HA65	.;TBC17_HUMAN	H	349;316	ENSP00000221543:R349H;ENSP00000446323:R316H	ENSP00000221543:R349H	R	+	2	0	TBC1D17	55078734	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	9.116000	0.94341	2.623000	0.88846	0.561000	0.74099	CGC		0.577	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		6	43	0	0	0	1	0	6	43				
SLC12A1	6557	broad.mit.edu	37	15	48500287	48500287	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:48500287C>A	ENST00000558405.1	+	1	385	c.371C>A	c.(370-372)cCc>cAc	p.P124H	SLC12A1_ENST00000330289.6_Missense_Mutation_p.P124H|SLC12A1_ENST00000380993.3_Missense_Mutation_p.P124H|SLC12A1_ENST00000396577.3_Missense_Mutation_p.P124H|SLC12A1_ENST00000561031.1_Missense_Mutation_p.P124H			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	124					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ATCAGTGGGCCCAAGGTCAAC	0.478																																						ENST00000396577.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59						c.(370-372)cCc>cAc		solute carrier family 12 (sodium/potassium/chloride transporter), member 1	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						89.0	85.0	86.0					15																	48500287		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48500287C>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.371C>A	15.37:g.48500287C>A	ENSP00000453409:p.Pro124His					SLC12A1_ENST00000558405.1_Missense_Mutation_p.P124H|SLC12A1_ENST00000561031.1_Missense_Mutation_p.P124H|SLC12A1_ENST00000330289.6_Missense_Mutation_p.P124H|SLC12A1_ENST00000380993.3_Missense_Mutation_p.P124H	p.P124H	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	2	586	+		all_lung(180;0.00219)	124					A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.371C>A	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024341	0.35701	.	.	ENSG00000074803	ENST00000380993;ENST00000396577;ENST00000330289	D;D;D	0.95756	-3.8;-3.8;-3.8	5.58	5.58	0.84498	Amino acid permease, N-terminal (1);	0.450963	0.26019	N	0.026831	D	0.86514	0.5951	N	0.02539	-0.55	0.32795	N	0.50066	P;B	0.39071	0.658;0.0	B;B	0.41894	0.369;0.003	D	0.86476	0.1788	10	0.39692	T	0.17	.	5.6925	0.17837	0.1763:0.6718:0.0:0.1519	.	124;124	Q8IUN5;Q13621	.;S12A1_HUMAN	H	124	ENSP00000370381:P124H;ENSP00000379822:P124H;ENSP00000331550:P124H	ENSP00000331550:P124H	P	+	2	0	SLC12A1	46287579	0.988000	0.35896	1.000000	0.80357	0.939000	0.58152	1.453000	0.35167	2.624000	0.88883	0.655000	0.94253	CCC		0.478	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			12	88	1	0	0.000151284	1	0.000174376	12	88				
ROBO2	6092	broad.mit.edu	37	3	77614132	77614132	+	Silent	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:77614132C>G	ENST00000461745.1	+	12	2610	c.1710C>G	c.(1708-1710)acC>acG	p.T570T	ROBO2_ENST00000332191.8_Silent_p.T570T|ROBO2_ENST00000487694.3_Silent_p.T586T	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	570	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCTGGCAGACCGTGGCAAACC	0.448																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(1708-1710)acC>acG		roundabout, axon guidance receptor, homolog 2 (Drosophila)							70.0	68.0	69.0					3																	77614132		1978	4170	6148	SO:0001819	synonymous_variant	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77614132C>G	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1710C>G	3.37:g.77614132C>G						ROBO2_ENST00000487694.3_Silent_p.T586T|ROBO2_ENST00000332191.8_Silent_p.T570T	p.T570T	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	12	2610	+			570			Fibronectin type-III 1.		O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	37	c.1710C>G	CCDS43109.1																																																																																				0.448	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		12	54	0	0	0	1	0	12	54				
PC	5091	broad.mit.edu	37	11	66639214	66639214	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:66639214C>A	ENST00000393958.2	-	4	358	c.265G>T	c.(265-267)Ggc>Tgc	p.G89C	PC_ENST00000393960.1_Missense_Mutation_p.G89C|PC_ENST00000355677.3_Missense_Mutation_p.G89C|PC_ENST00000393955.2_Missense_Mutation_p.G89C|PC_ENST00000524491.1_Missense_Mutation_p.G49C	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	89	Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GGGGCCAGGCCGCGGCCGATG	0.652																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(265-267)Ggc>Tgc		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						29.0	31.0	30.0					11																	66639214		2188	4281	6469	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66639214C>A	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.265G>T	11.37:g.66639214C>A	ENSP00000377530:p.Gly89Cys					PC_ENST00000393958.2_Missense_Mutation_p.G89C|PC_ENST00000393955.2_Missense_Mutation_p.G89C|PC_ENST00000355677.3_Missense_Mutation_p.G89C|PC_ENST00000524491.1_Missense_Mutation_p.G49C	p.G89C	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	5	546	-		Melanoma(852;0.0525)	89			Biotin carboxylation.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.265G>T	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927839	0.92389	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13	4.45	4.45	0.53987	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96772	0.8946	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97614	1.0131	10	0.87932	D	0	-27.3602	14.6389	0.68708	0.0:1.0:0.0:0.0	.	89	P11498	PYC_HUMAN	C	89;89;89;49;89	ENSP00000377527:G89C;ENSP00000377530:G89C;ENSP00000377532:G89C;ENSP00000434192:G49C;ENSP00000347900:G89C	ENSP00000347900:G89C	G	-	1	0	PC	66395790	1.000000	0.71417	0.966000	0.40874	0.990000	0.78478	7.031000	0.76491	2.311000	0.77944	0.655000	0.94253	GGC		0.652	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		4	12	1	0	0.00024832	1	0.000283794	4	12				
RNF168	165918	broad.mit.edu	37	3	196215545	196215545	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:196215545T>C	ENST00000318037.3	-	2	905	c.311A>G	c.(310-312)tAt>tGt	p.Y104C		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	104					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		AACTGGCTGATAGTCATCAGC	0.313																																						ENST00000318037.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(310-312)tAt>tGt		ring finger protein 168, E3 ubiquitin protein ligase							69.0	72.0	71.0					3																	196215545		2203	4300	6503	SO:0001583	missense	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196215545T>C	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.311A>G	3.37:g.196215545T>C	ENSP00000320898:p.Tyr104Cys						p.Y104C	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	2	905	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		104					Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	c.311A>G	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	T	2.736	-0.263316	0.05754	.	.	ENSG00000163961	ENST00000318037	T	0.06933	3.24	5.75	-5.9	0.02275	.	0.877403	0.09786	N	0.756015	T	0.04318	0.0119	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38243	-0.9670	10	0.38643	T	0.18	1.4646	5.8854	0.18878	0.0789:0.436:0.1398:0.3453	.	104	Q8IYW5	RN168_HUMAN	C	104	ENSP00000320898:Y104C	ENSP00000320898:Y104C	Y	-	2	0	RNF168	197699942	0.880000	0.30214	0.009000	0.14445	0.217000	0.24651	-0.496000	0.06436	-1.620000	0.01564	-1.964000	0.00472	TAT		0.313	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		14	37	0	0	0	1	0	14	37				
WDR24	84219	broad.mit.edu	37	16	736745	736745	+	Splice_Site	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:736745T>A	ENST00000248142.6	-	7	1720	c.1721A>T	c.(1720-1722)cAg>cTg	p.Q574L	LA16c-313D11.12_ENST00000566927.1_RNA|WDR24_ENST00000293883.4_Splice_Site_p.Q444L|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000609261.1_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24	574										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CCTACCTACCTGGTTGCGGCC	0.652																																						ENST00000293883.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19						c.e3+1		WD repeat domain 24							58.0	52.0	54.0					16																	736745		2200	4299	6499	SO:0001630	splice_region_variant	84219							g.chr16:736745T>A	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.1722+1A>T	16.37:g.736745T>A						WDR24_ENST00000248142.6_Splice_Site_p.Q574_splice	p.Q444_splice	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN			3	2090	-		Hepatocellular(780;0.0218)	574					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Splice_Site	SNP	ENST00000248142.6	37	c.1332_splice		.	.	.	.	.	.	.	.	.	.	T	11.94	1.787819	0.31593	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.78246	-1.16;0.25	4.91	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.78027	0.4219	L	0.32530	0.975	0.54753	D	0.999987	D	0.61697	0.99	D	0.62955	0.909	T	0.77038	-0.2736	10	0.44086	T	0.13	-19.4332	9.5023	0.39026	0.0:0.0843:0.0:0.9157	.	444	Q96S15-2	.	L	574;444	ENSP00000248142:Q574L;ENSP00000293883:Q444L	ENSP00000248142:Q574L	Q	-	2	0	WDR24	676746	1.000000	0.71417	1.000000	0.80357	0.337000	0.28794	5.339000	0.65953	1.967000	0.57214	0.533000	0.62120	CAG		0.652	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259	Missense_Mutation	8	66	0	0	0	1	0	8	66				
SYNE1	23345	broad.mit.edu	37	6	152542132	152542132	+	Missense_Mutation	SNP	C	C	G	rs202121741		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:152542132C>G	ENST00000367255.5	-	119	22307	c.21706G>C	c.(21706-21708)Gcc>Ccc	p.A7236P	SYNE1_ENST00000423061.1_Missense_Mutation_p.A7165P|SYNE1_ENST00000356820.4_Missense_Mutation_p.A1760P|SYNE1_ENST00000341594.5_Missense_Mutation_p.A6848P|SYNE1_ENST00000265368.4_Missense_Mutation_p.A7236P|SYNE1_ENST00000448038.1_Missense_Mutation_p.A7165P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7236					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGAAGTAGGGCCTTGCTGGAC	0.473										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(21706-21708)Gcc>Ccc		spectrin repeat containing, nuclear envelope 1							145.0	128.0	134.0					6																	152542132		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152542132C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.21706G>C	6.37:g.152542132C>G	ENSP00000356224:p.Ala7236Pro	HNSCC(10;0.0054)				SYNE1_ENST00000356820.4_Missense_Mutation_p.A1760P|SYNE1_ENST00000423061.1_Missense_Mutation_p.A7165P|SYNE1_ENST00000341594.5_Missense_Mutation_p.A6848P|SYNE1_ENST00000448038.1_Missense_Mutation_p.A7165P|SYNE1_ENST00000265368.4_Missense_Mutation_p.A7236P	p.A7236P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	119	22307	-		Ovarian(120;0.0955)	7236					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.21706G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792476	0.90453	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T	0.55760	0.59;0.59;0.5;0.59;0.69;2.57;1.66	5.53	5.53	0.82687	.	0.105504	0.41938	D	0.000798	T	0.51041	0.1651	M	0.62723	1.935	0.47621	D	0.999475	P;P;D;P	0.55800	0.954;0.954;0.973;0.954	P;P;P;P	0.53809	0.548;0.548;0.735;0.548	T	0.46652	-0.9176	10	0.33141	T	0.24	.	13.0848	0.59133	0.0:0.9262:0.0:0.0738	.	7236;7236;7165;7165	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	P	7236;7165;7236;7165;6848;1760;158	ENSP00000356224:A7236P;ENSP00000396024:A7165P;ENSP00000265368:A7236P;ENSP00000390975:A7165P;ENSP00000341887:A6848P;ENSP00000349276:A1760P;ENSP00000356220:A158P	ENSP00000265368:A7236P	A	-	1	0	SYNE1	152583825	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.896000	0.63222	2.753000	0.94483	0.585000	0.79938	GCC		0.473	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		9	89	0	0	0	1	0	9	89				
NOX3	50508	broad.mit.edu	37	6	155743916	155743916	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:155743916G>T	ENST00000159060.2	-	10	1322	c.1220C>A	c.(1219-1221)gCg>gAg	p.A407E		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	407					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TCCGATCCCCGCGGCAACGCA	0.527																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(1219-1221)gCg>gAg		NADPH oxidase 3							139.0	135.0	137.0					6																	155743916		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155743916G>T	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1220C>A	6.37:g.155743916G>T	ENSP00000159060:p.Ala407Glu						p.A407E	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	10	1322	-		Breast(66;0.0183)	407					Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.1220C>A	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545949	0.65198	.	.	ENSG00000074771	ENST00000159060	T	0.66815	-0.23	5.81	5.81	0.92471	Ferric reductase, NAD binding (1);	0.166434	0.42821	D	0.000658	D	0.85026	0.5603	H	0.94771	3.58	0.39490	D	0.968032	D	0.62365	0.991	P	0.62649	0.905	D	0.88229	0.2902	10	0.66056	D	0.02	-4.856	20.0755	0.97742	0.0:0.0:1.0:0.0	.	407	Q9HBY0	NOX3_HUMAN	E	407	ENSP00000159060:A407E	ENSP00000159060:A407E	A	-	2	0	NOX3	155785608	1.000000	0.71417	0.007000	0.13788	0.022000	0.10575	9.476000	0.97823	2.747000	0.94245	0.643000	0.83706	GCG		0.527	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			14	119	1	0	3.27435e-08	1	4.37302e-08	14	119				
LINC01317	104355287	broad.mit.edu	37	2	33952399	33952399	+	lincRNA	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:33952399C>A	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							TGCAGTGCCCCAGGCTCAGCA	0.647																																						ENST00000366209.2																			0																																																			104355287							g.chr2:33952399C>A																													2.37:g.33952399C>A						MYADML_ENST00000474610.1_RNA								0	68	+									RNA	SNP	ENST00000366209.2	37																																																																																						0.647	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000325406.1			4	13	1	0	0.00909568	1	0.00960694	4	13				
MYO15A	51168	broad.mit.edu	37	17	18034650	18034650	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:18034650T>C	ENST00000205890.5	+	9	4474	c.4136T>C	c.(4135-4137)cTg>cCg	p.L1379P		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1379	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GAAATCTTTCTGGAAGGGTGA	0.567																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(4135-4137)cTg>cCg		myosin XVA							61.0	65.0	64.0					17																	18034650		1967	4190	6157	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18034650T>C	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.4136T>C	17.37:g.18034650T>C	ENSP00000205890:p.Leu1379Pro						p.L1379P	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			9	4474	+	all_neural(463;0.228)		1379			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.4136T>C	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.860198	0.51482	.	.	ENSG00000091536	ENST00000205890	D	0.95690	-3.78	5.22	4.13	0.48395	Myosin head, motor domain (3);	.	.	.	.	D	0.96756	0.8941	M	0.81112	2.525	0.80722	D	1	D	0.55385	0.971	P	0.58780	0.845	D	0.96091	0.9061	9	0.66056	D	0.02	.	11.038	0.47814	0.1397:0.0:0.0:0.8603	.	1379	Q9UKN7	MYO15_HUMAN	P	1379	ENSP00000205890:L1379P	ENSP00000205890:L1379P	L	+	2	0	MYO15A	17975375	1.000000	0.71417	0.999000	0.59377	0.890000	0.51754	5.033000	0.64146	0.802000	0.34089	0.402000	0.26972	CTG		0.567	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		9	42	0	0	0	1	0	9	42				
BVES	11149	broad.mit.edu	37	6	105577301	105577301	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:105577301C>A	ENST00000314641.5	-	3	520	c.304G>T	c.(304-306)Ggt>Tgt	p.G102C	BVES_ENST00000336775.5_Missense_Mutation_p.G102C|BVES_ENST00000446408.2_Missense_Mutation_p.G102C	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	102					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				ATGTTGACACCCAAGAACACA	0.358																																						ENST00000314641.5																			0				NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(304-306)Ggt>Tgt		blood vessel epicardial substance							93.0	86.0	88.0					6																	105577301		2203	4300	6503	SO:0001583	missense	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105577301C>A	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.304G>T	6.37:g.105577301C>A	ENSP00000313172:p.Gly102Cys					BVES_ENST00000446408.2_Missense_Mutation_p.G102C|BVES_ENST00000336775.5_Missense_Mutation_p.G102C	p.G102C	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN			3	520	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	102					A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.304G>T	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063227	0.55432	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.17370	2.28;2.28;2.28	5.4	1.28	0.21552	.	0.652399	0.15917	N	0.238310	T	0.05731	0.0150	L	0.40543	1.245	0.34156	D	0.668129	D	0.57571	0.98	B	0.43701	0.428	T	0.30937	-0.9961	10	0.59425	D	0.04	-14.1921	2.862	0.05590	0.1307:0.5297:0.127:0.2126	.	102	Q8NE79	POPD1_HUMAN	C	102	ENSP00000313172:G102C;ENSP00000337259:G102C;ENSP00000397310:G102C	ENSP00000313172:G102C	G	-	1	0	BVES	105683994	0.860000	0.29831	1.000000	0.80357	0.998000	0.95712	0.267000	0.18552	1.277000	0.44412	0.585000	0.79938	GGT		0.358	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147		7	49	1	0	8.12818e-05	1	9.40913e-05	7	49				
FAT3	120114	broad.mit.edu	37	11	92531676	92531676	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:92531676A>T	ENST00000298047.6	+	9	5514	c.5497A>T	c.(5497-5499)Atc>Ttc	p.I1833F	FAT3_ENST00000409404.2_Missense_Mutation_p.I1833F|FAT3_ENST00000525166.1_Missense_Mutation_p.I1683F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1833	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TACAGGTGCAATCAGAACAAT	0.483										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(5497-5499)Atc>Ttc		FAT atypical cadherin 3							60.0	56.0	57.0					11																	92531676		1967	4161	6128	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92531676A>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5497A>T	11.37:g.92531676A>T	ENSP00000298047:p.Ile1833Phe	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.I1683F|FAT3_ENST00000409404.2_Missense_Mutation_p.I1833F	p.I1833F			Q8TDW7	FAT3_HUMAN			9	5514	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1833			Cadherin 16.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.5497A>T		.	.	.	.	.	.	.	.	.	.	A	15.56	2.870722	0.51695	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.61392	0.11;0.11;0.11	5.93	4.79	0.61399	.	.	.	.	.	D	0.83022	0.5164	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85879	0.1421	9	0.31617	T	0.26	.	13.3594	0.60646	0.8684:0.1316:0.0:0.0	.	1833	Q8TDW7-3	.	F	1833;1833;1683	ENSP00000298047:I1833F;ENSP00000387040:I1833F;ENSP00000432586:I1683F	ENSP00000298047:I1833F	I	+	1	0	FAT3	92171324	1.000000	0.71417	0.920000	0.36463	0.752000	0.42762	7.406000	0.80017	1.052000	0.40392	0.482000	0.46254	ATC		0.483	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		9	31	0	0	0	1	0	9	31				
LMAN2L	81562	broad.mit.edu	37	2	97368984	97368984	+	IGR	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:97368984C>T	ENST00000264963.4	-	0	2397				FER1L5_ENST00000457909.1_RNA	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like						ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						CCAAGTGGCCCTATTTCATCC	0.582																																						ENST00000457909.1																			0				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38								fer-1-like 5 (C. elegans)							80.0	84.0	83.0					2																	97368984		1961	4143	6104	SO:0001628	intergenic_variant	90342					integral to membrane		g.chr2:97368984C>T	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453		2.37:g.97368984C>T										A0AVI2	FR1L5_HUMAN			0	5095	+								B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	RNA	SNP	ENST00000264963.4	37		CCDS2023.1																																																																																				0.582	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		19	114	0	0	0	1	0	19	114				
SLC13A3	64849	broad.mit.edu	37	20	45194884	45194884	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr20:45194884G>A	ENST00000279027.4	-	11	1496	c.1478C>T	c.(1477-1479)cCg>cTg	p.P493L	SLC13A3_ENST00000290317.5_Missense_Mutation_p.P446L|SLC13A3_ENST00000435032.1_Missense_Mutation_p.P78L|SLC13A3_ENST00000472148.1_Missense_Mutation_p.P411L|SLC13A3_ENST00000396360.1_Missense_Mutation_p.P411L|SLC13A3_ENST00000413164.2_Missense_Mutation_p.P443L|SLC13A3_ENST00000495082.1_Missense_Mutation_p.P446L	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	493					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TGCCAGGACCGGCAGGAAGAT	0.602																																						ENST00000279027.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1477-1479)cCg>cTg		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)						91.0	94.0	93.0					20																	45194884		2202	4299	6501	SO:0001583	missense	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45194884G>A	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1478C>T	20.37:g.45194884G>A	ENSP00000279027:p.Pro493Leu					SLC13A3_ENST00000413164.2_Missense_Mutation_p.P443L|SLC13A3_ENST00000495082.1_Missense_Mutation_p.P446L|SLC13A3_ENST00000472148.1_Missense_Mutation_p.P411L|SLC13A3_ENST00000435032.1_Missense_Mutation_p.P78L|SLC13A3_ENST00000290317.5_Missense_Mutation_p.P446L|SLC13A3_ENST00000396360.1_Missense_Mutation_p.P411L	p.P493L	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN			11	1496	-		Myeloproliferative disorder(115;0.0122)	493					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	c.1478C>T	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718325	0.89205	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000435032;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082	T;T;T;T;T;T;T	0.04862	3.54;3.54;3.54;3.54;3.54;3.54;3.54	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.41396	0.1157	H	0.96916	3.905	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.99;1.0;1.0;1.0;1.0;1.0	T	0.62459	-0.6850	10	0.87932	D	0	-23.561	18.8313	0.92141	0.0:0.0:1.0:0.0	.	443;78;411;446;395;493	B4DIR8;B4E181;Q8WWT9-3;F6WI18;B4DF27;Q8WWT9	.;.;.;.;.;S13A3_HUMAN	L	446;411;78;493;411;443;446	ENSP00000290317:P446L;ENSP00000379648:P411L;ENSP00000403394:P78L;ENSP00000279027:P493L;ENSP00000420177:P411L;ENSP00000415852:P443L;ENSP00000419621:P446L	ENSP00000279027:P493L	P	-	2	0	SLC13A3	44628291	1.000000	0.71417	0.970000	0.41538	0.724000	0.41520	9.671000	0.98627	2.443000	0.82685	0.561000	0.74099	CCG		0.602	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			10	135	0	0	0	1	0	10	135				
STEAP2	261729	broad.mit.edu	37	7	89859300	89859300	+	Missense_Mutation	SNP	A	A	G	rs140360438		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:89859300A>G	ENST00000287908.3	+	4	1528	c.1135A>G	c.(1135-1137)Atc>Gtc	p.I379V	STEAP2_ENST00000394621.2_Missense_Mutation_p.I379V|STEAP2_ENST00000394622.2_Missense_Mutation_p.I379V|STEAP2_ENST00000394629.2_Missense_Mutation_p.I379V|STEAP2_ENST00000394632.1_Missense_Mutation_p.I379V|STEAP2_ENST00000402625.2_Missense_Mutation_p.I379V|STEAP2_ENST00000394626.1_Missense_Mutation_p.I379V	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	379	Ferric oxidoreductase.				copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					AGTCACTTCTATCCCTTCAGT	0.408																																						ENST00000287908.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(1135-1137)Atc>Gtc		STEAP family member 2, metalloreductase		A	VAL/ILE,VAL/ILE,VAL/ILE	0,4406		0,0,2203	197.0	201.0	200.0		1135,1135,1135	5.9	1.0	7	dbSNP_134	200	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	STEAP2	NM_001040665.1,NM_001040666.1,NM_152999.3	29,29,29	0,2,6501	GG,GA,AA		0.0233,0.0,0.0154	benign,benign,benign	379/491,379/455,379/491	89859300	2,13004	2203	4300	6503	SO:0001583	missense	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89859300A>G	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.1135A>G	7.37:g.89859300A>G	ENSP00000287908:p.Ile379Val					STEAP2_ENST00000394632.1_Missense_Mutation_p.I379V|STEAP2_ENST00000394626.1_Missense_Mutation_p.I379V|STEAP2_ENST00000394621.2_Missense_Mutation_p.I379V|STEAP2_ENST00000402625.2_Missense_Mutation_p.I379V|STEAP2_ENST00000394622.2_Missense_Mutation_p.I379V|STEAP2_ENST00000394629.2_Missense_Mutation_p.I379V	p.I379V	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN			4	1528	+	all_hematologic(106;0.112)		379			Ferric oxidoreductase.		A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Missense_Mutation	SNP	ENST00000287908.3	37	c.1135A>G	CCDS5615.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.267828	0.59540	0.0	2.33E-4	ENSG00000157214	ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394632;ENST00000394624;ENST00000394621;ENST00000402625;ENST00000394629	D;D;D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;-2.78;-2.78;-2.78	5.93	5.93	0.95920	Flavoprotein transmembrane component (1);	0.047619	0.85682	D	0.000000	D	0.90048	0.6892	L	0.29908	0.895	0.44771	D	0.997772	P;P;P	0.36683	0.504;0.56;0.565	B;P;B	0.47891	0.425;0.56;0.401	D	0.90230	0.4278	10	0.54805	T	0.06	-19.5276	16.3839	0.83495	1.0:0.0:0.0:0.0	.	379;379;379	G5E9C6;Q6YPB2;Q8NFT2	.;.;STEA2_HUMAN	V	379	ENSP00000287908:I379V;ENSP00000378123:I379V;ENSP00000378120:I379V;ENSP00000378128:I379V;ENSP00000378119:I379V;ENSP00000384191:I379V;ENSP00000378125:I379V	ENSP00000287908:I379V	I	+	1	0	STEAP2	89697236	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	5.039000	0.64185	2.258000	0.74832	0.533000	0.62120	ATC		0.408	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		42	182	0	0	0	1	0	42	182				
PYGL	5836	broad.mit.edu	37	14	51411043	51411043	+	Missense_Mutation	SNP	C	C	G	rs376771385		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:51411043C>G	ENST00000216392.7	-	1	411	c.79G>C	c.(79-81)Gag>Cag	p.E27Q	PYGL_ENST00000532462.1_Missense_Mutation_p.E27Q|PYGL_ENST00000544180.2_Missense_Mutation_p.E27Q	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	27					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	TTCTTCAGCTCTGCCACGTTC	0.667																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(79-81)Gag>Cag		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	C	GLN/GLU,GLN/GLU	1,4405	2.1+/-5.4	0,1,2202	86.0	65.0	72.0		79,79	4.3	1.0	14		72	0,8600		0,0,4300	no	missense,missense	PYGL	NM_001163940.1,NM_002863.4	29,29	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	benign,benign	27/814,27/848	51411043	1,13005	2203	4300	6503	SO:0001583	missense	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51411043C>G		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.79G>C	14.37:g.51411043C>G	ENSP00000216392:p.Glu27Gln					PYGL_ENST00000532462.1_Missense_Mutation_p.E27Q|PYGL_ENST00000544180.2_Missense_Mutation_p.E27Q	p.E27Q	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			1	411	-	all_epithelial(31;0.00825)|Breast(41;0.148)		27					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.79G>C	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004183	0.74932	2.27E-4	0.0	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.88046	-2.33;-2.33;-2.33	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	D	0.88232	0.6381	L	0.58669	1.825	0.80722	D	1	P;B;P	0.48016	0.904;0.353;0.705	P;B;B	0.50490	0.642;0.056;0.291	D	0.86531	0.1822	10	0.27082	T	0.32	-2.4103	16.0212	0.80493	0.0:1.0:0.0:0.0	.	27;49;27	F5H816;Q6P1L4;P06737	.;.;PYGL_HUMAN	Q	27	ENSP00000431657:E27Q;ENSP00000443787:E27Q;ENSP00000216392:E27Q	ENSP00000216392:E27Q	E	-	1	0	PYGL	50480793	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.338000	0.79269	2.263000	0.75096	0.561000	0.74099	GAG		0.667	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		5	36	0	0	0	1	0	5	36				
CWF19L2	143884	broad.mit.edu	37	11	107263575	107263575	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:107263575C>A	ENST00000282251.5	-	11	1691	c.1664G>T	c.(1663-1665)gGa>gTa	p.G555V	CWF19L2_ENST00000433523.1_Missense_Mutation_p.G555V	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	555							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CCATACTCTTCCAGACTGATC	0.348																																						ENST00000282251.5																			0				endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40						c.(1663-1665)gGa>gTa		CWF19-like 2, cell cycle control (S. pombe)							116.0	111.0	113.0					11																	107263575		2201	4298	6499	SO:0001583	missense	143884						catalytic activity	g.chr11:107263575C>A	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1664G>T	11.37:g.107263575C>A	ENSP00000282251:p.Gly555Val					CWF19L2_ENST00000433523.1_Missense_Mutation_p.G555V	p.G555V	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	11	1691	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	555					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.1664G>T	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313689	0.81358	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.38240	1.15;1.15	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68930	-0.5279	10	0.72032	D	0.01	-29.5626	18.3537	0.90348	0.0:1.0:0.0:0.0	.	555	Q2TBE0	C19L2_HUMAN	V	555	ENSP00000282251:G555V;ENSP00000387533:G555V	ENSP00000282251:G555V	G	-	2	0	CWF19L2	106768785	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.636000	0.67848	2.937000	0.99478	0.650000	0.86243	GGA		0.348	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		7	37	1	0	5.18039e-06	1	6.40024e-06	7	37				
ULK4	54986	broad.mit.edu	37	3	41795981	41795981	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:41795981C>A	ENST00000301831.4	-	22	2656		c.e22-1			NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4						cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AGACAAAACCCTGTAGAAGAC	0.363																																						ENST00000301831.4																			0				breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.e22-1		unc-51 like kinase 4							69.0	66.0	67.0					3																	41795981		1813	4075	5888	SO:0001630	splice_region_variant	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41795981C>A	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2194-1G>T	3.37:g.41795981C>A								NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	22	2656	-								A6NF15|Q8IW79|Q9NWV6|Q9UF96	Splice_Site	SNP	ENST00000301831.4	37		CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717338	0.68844	.	.	ENSG00000168038	ENST00000301831	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7079	0.88313	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ULK4	41770985	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	5.711000	0.68400	2.466000	0.83321	0.591000	0.81541	.		0.363	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989	Intron	6	38	1	0	0.217242	1	0.218867	6	38				
NLRP12	91662	broad.mit.edu	37	19	54297342	54297342	+	Silent	SNP	C	C	A	rs148506660		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:54297342C>A	ENST00000324134.6	-	10	3315	c.3147G>T	c.(3145-3147)gcG>gcT	p.A1049A	NLRP12_ENST00000391775.3_Silent_p.A992A|NLRP12_ENST00000351894.4_Silent_p.A937A|NLRP12_ENST00000391773.1_Silent_p.A1050A|NLRP12_ENST00000391772.1_Silent_p.A880A|NLRP12_ENST00000354278.3_Silent_p.A880A|NLRP12_ENST00000535162.1_Silent_p.A992A|NLRP12_ENST00000345770.5_Silent_p.A994A	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1049					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.A1049A(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTACTCGAAGCGCTGCCAACC	0.463																																						ENST00000324134.6																			1	Substitution - coding silent(1)	p.A1049A(1)	large_intestine(1)	NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(3145-3147)gcG>gcT		NLR family, pyrin domain containing 12							176.0	140.0	152.0					19																	54297342		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54297342C>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.3147G>T	19.37:g.54297342C>A						NLRP12_ENST00000391775.3_Silent_p.A992A|NLRP12_ENST00000351894.4_Silent_p.A937A|NLRP12_ENST00000345770.5_Silent_p.A994A|NLRP12_ENST00000391772.1_Silent_p.A880A|NLRP12_ENST00000354278.3_Silent_p.A880A|NLRP12_ENST00000535162.1_Silent_p.A992A|NLRP12_ENST00000391773.1_Silent_p.A1050A	p.A1049A	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	10	3315	-	Ovarian(34;0.19)		1049					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.3147G>T	CCDS12864.1																																																																																				0.463	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		5	59	1	0	0.184627	1	0.186707	5	59				
POLN	353497	broad.mit.edu	37	4	2178012	2178012	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:2178012T>A	ENST00000511885.2	-	9	1582	c.1229A>T	c.(1228-1230)gAc>gTc	p.D410V	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Missense_Mutation_p.D410V			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	410					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			AGAGCAAAGGTCCATTGTAAG	0.403								DNA polymerases (catalytic subunits)																														ENST00000511885.2																			0				kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28						c.(1228-1230)gAc>gTc	DNA polymerases (catalytic subunits)	polymerase (DNA directed) nu							197.0	200.0	199.0					4																	2178012		2203	4300	6503	SO:0001583	missense	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2178012T>A	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1229A>T	4.37:g.2178012T>A	ENSP00000435506:p.Asp410Val					POLN_ENST00000382865.1_Missense_Mutation_p.D410V|POLN_ENST00000515357.1_5'UTR	p.D410V			Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		9	1582	-			410					A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	c.1229A>T	CCDS3360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.038|9.038	0.989021|0.989021	0.18966|0.18966	.|.	.|.	ENSG00000130997|ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313|ENST00000511098	T;T|.	0.04317|.	3.65;3.65|.	5.21|5.21	-1.61|-1.61	0.08399|0.08399	.|.	6.256780|.	0.00166|.	N|.	0.000001|.	T|T	0.13372|0.13372	0.0324|0.0324	N|N	0.02802|0.02802	-0.49|-0.49	0.34693|0.34693	D|D	0.725918|0.725918	B;B|.	0.14012|.	0.009;0.0|.	B;B|.	0.12837|.	0.008;0.001|.	T|T	0.25363|0.25363	-1.0134|-1.0134	10|5	0.12430|.	T|.	0.62|.	12.9842|12.9842	2.5682|2.5682	0.04788|0.04788	0.1321:0.1036:0.1355:0.6287|0.1321:0.1036:0.1355:0.6287	.|.	410;410|.	E7ERY2;Q7Z5Q5|.	.;DPOLN_HUMAN|.	V|S	410;410;101|44	ENSP00000435506:D410V;ENSP00000372316:D410V|.	ENSP00000253313:D101V|.	D|T	-|-	2|1	0|0	POLN|POLN	2147810|2147810	0.798000|0.798000	0.28890|0.28890	0.117000|0.117000	0.21633|0.21633	0.962000|0.962000	0.63368|0.63368	0.373000|0.373000	0.20484|0.20484	-0.522000|-0.522000	0.06417|0.06417	0.368000|0.368000	0.22195|0.22195	GAC|ACC		0.403	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		12	112	0	0	0	1	0	12	112				
HERC2P3	283755	broad.mit.edu	37	15	20588691	20588691	+	RNA	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:20588691A>T	ENST00000428453.1	-	0	4059							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CTCCAAAAACAACATCTGGAC	0.318																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															127.0	91.0	103.0					15																	20588691		2181	4242	6423			283755							g.chr15:20588691A>T	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20588691A>T														0	4059	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.318	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		6	79	0	0	0	1	0	6	79				
PTPRS	5802	broad.mit.edu	37	19	5244023	5244023	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:5244023T>G	ENST00000587303.1	-	10	1558	c.1459A>C	c.(1459-1461)Acc>Ccc	p.T487P	PTPRS_ENST00000592099.1_Missense_Mutation_p.T474P|PTPRS_ENST00000353284.2_Missense_Mutation_p.T474P|PTPRS_ENST00000357368.4_Missense_Mutation_p.T487P|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.T483P|PTPRS_ENST00000372412.4_Missense_Mutation_p.T488P|PTPRS_ENST00000348075.2_Missense_Mutation_p.T474P|PTPRS_ENST00000588012.1_Missense_Mutation_p.T474P			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	487	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CTGCCCACGGTGGTCAGCAGG	0.667																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(1462-1464)Acc>Ccc		protein tyrosine phosphatase, receptor type, S							86.0	71.0	76.0					19																	5244023		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5244023T>G	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1459A>C	19.37:g.5244023T>G	ENSP00000467537:p.Thr487Pro					PTPRS_ENST00000262963.6_Missense_Mutation_p.T483P|PTPRS_ENST00000353284.2_Missense_Mutation_p.T474P|PTPRS_ENST00000348075.2_Missense_Mutation_p.T474P|PTPRS_ENST00000587303.1_Missense_Mutation_p.T487P|PTPRS_ENST00000588012.1_Missense_Mutation_p.T474P|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.T474P|PTPRS_ENST00000357368.4_Missense_Mutation_p.T487P	p.T488P			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	11	1695	-			487			Fibronectin type-III 2.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.1462A>C	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.233293	0.79688	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09	3.51	3.51	0.40186	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000002	T	0.78502	0.4293	M	0.89534	3.04	0.54753	D	0.999988	B;B;B;D;D;B	0.89917	0.003;0.036;0.004;1.0;1.0;0.009	B;B;B;D;D;B	0.97110	0.012;0.067;0.013;0.997;1.0;0.022	T	0.83025	-0.0165	10	0.87932	D	0	.	12.2142	0.54396	0.0:0.0:0.0:1.0	.	487;474;478;474;487;500	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	P	500;488;487;487;487;483;474;487;478;474	ENSP00000361489:T488P;ENSP00000349932:T487P;ENSP00000262963:T483P;ENSP00000269907:T474P;ENSP00000327313:T474P	ENSP00000262963:T483P	T	-	1	0	PTPRS	5195023	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.722000	0.84778	1.485000	0.48380	0.379000	0.24179	ACC		0.667	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			19	53	0	0	0	1	0	19	53				
IGSF6	10261	broad.mit.edu	37	16	21652900	21652900	+	Missense_Mutation	SNP	G	G	T	rs562061536		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:21652900G>T	ENST00000268389.4	-	6	742	c.681C>A	c.(679-681)aaC>aaA	p.N227K	METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron|RNU6-1005P_ENST00000384519.1_RNA|RNU6-196P_ENST00000384315.1_RNA	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	227					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		TTTCATAAGTGTTGTTATCTT	0.373																																						ENST00000268389.4																			0				endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(679-681)aaC>aaA		immunoglobulin superfamily, member 6							127.0	114.0	119.0					16																	21652900		2198	4299	6497	SO:0001583	missense	10261				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr16:21652900G>T	AJ223183	CCDS10599.1	16p12.2	2013-01-11			ENSG00000140749	ENSG00000140749		"""Immunoglobulin superfamily / V-set domain containing"""	5953	protein-coding gene	gene with protein product		606222				9809579	Standard	NM_005849		Approved	DORA	uc002djg.2	O95976	OTTHUMG00000090709	ENST00000268389.4:c.681C>A	16.37:g.21652900G>T	ENSP00000268389:p.Asn227Lys					METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron	p.N227K	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN		GBM - Glioblastoma multiforme(48;0.066)	6	742	-			227					Q8WWD8	Missense_Mutation	SNP	ENST00000268389.4	37	c.681C>A	CCDS10599.1	.	.	.	.	.	.	.	.	.	.	G	1.659	-0.512047	0.04200	.	.	ENSG00000140749	ENST00000268389	T	0.21932	1.98	5.92	2.96	0.34315	.	0.807626	0.11675	N	0.540439	T	0.16128	0.0388	L	0.34521	1.04	0.09310	N	1	B	0.21606	0.058	B	0.20577	0.03	T	0.24548	-1.0157	10	0.39692	T	0.17	-11.8243	8.2037	0.31441	0.2454:0.0:0.7546:0.0	.	227	O95976	IGSF6_HUMAN	K	227	ENSP00000268389:N227K	ENSP00000268389:N227K	N	-	3	2	IGSF6	21560401	0.037000	0.19845	0.016000	0.15963	0.062000	0.15995	0.975000	0.29449	0.431000	0.26258	-0.140000	0.14226	AAC		0.373	IGSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207400.1			4	23	1	0	0.00909568	1	0.00960694	4	23				
MYO3B	140469	broad.mit.edu	37	2	171259392	171259392	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:171259392G>A	ENST00000408978.4	+	19	2307	c.2164G>A	c.(2164-2166)Gat>Aat	p.D722N	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Missense_Mutation_p.D731N|MYO3B_ENST00000409044.3_Missense_Mutation_p.D722N	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	722	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGGGATCTTGGATATCTTTGG	0.403																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(2191-2193)Gat>Aat		myosin IIIB							132.0	123.0	126.0					2																	171259392		1879	4111	5990	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171259392G>A		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2164G>A	2.37:g.171259392G>A	ENSP00000386213:p.Asp722Asn					MYO3B_ENST00000409044.3_Missense_Mutation_p.D722N|MYO3B_ENST00000408978.4_Missense_Mutation_p.D722N|MYO3B_ENST00000602629.1_3'UTR	p.D731N			Q8WXR4	MYO3B_HUMAN			19	2191	+			722			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.2191G>A	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	G	36	5.647029	0.96714	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33	6.02	6.02	0.97574	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.99278	0.9748	H	0.98786	4.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98519	1.0622	10	0.87932	D	0	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	722;722;722	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	N	722;722;721;731;731	ENSP00000386497:D722N;ENSP00000386213:D722N;ENSP00000446237:D731N;ENSP00000335100:D731N	ENSP00000314213:D721N	D	+	1	0	MYO3B	170967638	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.830000	0.99415	2.865000	0.98341	0.655000	0.94253	GAT		0.403	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			23	77	0	0	0	1	0	23	77				
CD1B	910	broad.mit.edu	37	1	158300693	158300693	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:158300693C>G	ENST00000368168.3	-	2	328	c.221G>C	c.(220-222)gGt>gCt	p.G74A		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	74					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ACTAAAGTTACCTTTAGACCA	0.473																																						ENST00000368168.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(220-222)gGt>gCt		CD1b molecule							273.0	268.0	270.0					1																	158300693		2203	4300	6503	SO:0001583	missense	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158300693C>G	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.221G>C	1.37:g.158300693C>G	ENSP00000357150:p.Gly74Ala						p.G74A	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			2	328	-	all_hematologic(112;0.0378)		74					Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.221G>C	CCDS1176.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.25|10.25	1.299736|1.299736	0.23650|0.23650	.|.	.|.	ENSG00000158485|ENSG00000158485	ENST00000368168|ENST00000451207	T|.	0.07800|.	3.16|.	4.01|4.01	3.01|3.01	0.34805|0.34805	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	0.166737|.	0.28847|.	N|.	0.013959|.	T|T	0.44582|0.44582	0.1300|0.1300	M|M	0.78801|0.78801	2.425|2.425	0.25165|0.25165	N|N	0.990323|0.990323	D;P|.	0.65815|.	0.995;0.904|.	D;P|.	0.77557|.	0.99;0.552|.	T|T	0.26292|0.26292	-1.0107|-1.0107	10|5	0.54805|.	T|.	0.06|.	-19.6164|-19.6164	9.0255|9.0255	0.36227|0.36227	0.0:0.7735:0.2265:0.0|0.0:0.7735:0.2265:0.0	.|.	74;74|.	B4E0D2;P29016|.	.;CD1B_HUMAN|.	A|S	74|41	ENSP00000357150:G74A|.	ENSP00000357150:G74A|.	G|R	-|-	2|3	0|2	CD1B|CD1B	156567317|156567317	0.314000|0.314000	0.24563|0.24563	0.942000|0.942000	0.38095|0.38095	0.194000|0.194000	0.23727|0.23727	1.486000|1.486000	0.35530|0.35530	2.218000|2.218000	0.71995|0.71995	0.655000|0.655000	0.94253|0.94253	GGT|AGG		0.473	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		49	324	0	0	0	1	0	49	324				
SDPR	8436	broad.mit.edu	37	2	192701247	192701247	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:192701247C>G	ENST00000304141.4	-	2	1009	c.680G>C	c.(679-681)aGg>aCg	p.R227T		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			TTTCTCTGCCCTACTTTCTTC	0.493																																						ENST00000304141.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(679-681)aGg>aCg		serum deprivation response	Phosphatidylserine(DB00144)						144.0	149.0	148.0					2																	192701247		2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192701247C>G	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.680G>C	2.37:g.192701247C>G	ENSP00000305675:p.Arg227Thr						p.R227T	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		2	1009	-			227						Missense_Mutation	SNP	ENST00000304141.4	37	c.680G>C	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445228	0.63178	.	.	ENSG00000168497	ENST00000304141	T	0.68025	-0.3	5.16	5.16	0.70880	.	0.051416	0.85682	D	0.000000	T	0.71409	0.3336	M	0.67625	2.065	0.58432	D	0.999999	P	0.51537	0.946	P	0.46585	0.521	T	0.74346	-0.3695	10	0.49607	T	0.09	-35.0511	18.8456	0.92205	0.0:1.0:0.0:0.0	.	227	O95810	SDPR_HUMAN	T	227	ENSP00000305675:R227T	ENSP00000305675:R227T	R	-	2	0	SDPR	192409492	1.000000	0.71417	0.917000	0.36280	0.009000	0.06853	7.651000	0.83577	2.698000	0.92095	0.563000	0.77884	AGG		0.493	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		14	153	0	0	0	1	0	14	153				
PSMA2	5683	broad.mit.edu	37	7	42957398	42957398	+	Silent	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:42957398A>G	ENST00000223321.4	-	7	631	c.567T>C	c.(565-567)caT>caC	p.H189H	PSMA2_ENST00000442788.1_Silent_p.H189H|PSMA2_ENST00000445517.1_Silent_p.H119H	NM_002787.4	NP_002778.1	P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	189					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to virus (GO:0009615)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						AGATGGCTGTATGAATGGCAT	0.279																																						ENST00000442788.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						c.(565-567)caT>caC		proteasome (prosome, macropain) subunit, alpha type, 2							85.0	88.0	87.0					7																	42957398		2203	4300	6503	SO:0001819	synonymous_variant	5683				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity	g.chr7:42957398A>G	D00760	CCDS5467.1	7p13	2005-10-11			ENSG00000106588	ENSG00000106588		"""Proteasome (prosome, macropain) subunits"""	9531	protein-coding gene	gene with protein product		176842				2025653, 1888762	Standard	NM_002787		Approved	MU, HC3, PMSA2	uc003thy.3	P25787	OTTHUMG00000023916	ENST00000223321.4:c.567T>C	7.37:g.42957398A>G						PSMA2_ENST00000223321.4_Silent_p.H189H|PSMA2_ENST00000445517.1_Silent_p.H119H	p.H189H			P25787	PSA2_HUMAN			7	582	-			189					Q6ICS6|Q9BU45	Silent	SNP	ENST00000223321.4	37	c.567T>C	CCDS5467.1																																																																																				0.279	PSMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250816.1	NM_002787		12	64	0	0	0	1	0	12	64				
SEC24C	9632	broad.mit.edu	37	10	75528771	75528771	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:75528771G>T	ENST00000339365.2	+	18	2447	c.2285G>T	c.(2284-2286)cGt>cTt	p.R762L	SEC24C_ENST00000540668.1_Missense_Mutation_p.R10L|SEC24C_ENST00000535742.1_Missense_Mutation_p.R10L|SEC24C_ENST00000345254.4_Missense_Mutation_p.R762L|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000411652.2_Missense_Mutation_p.R643L	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	762					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TCAGGTATCCGTGCTGTAGAT	0.507																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(2284-2286)cGt>cTt		SEC24 family member C							104.0	92.0	96.0					10																	75528771		2203	4300	6503	SO:0001583	missense	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75528771G>T	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2285G>T	10.37:g.75528771G>T	ENSP00000343405:p.Arg762Leu					SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000535742.1_Missense_Mutation_p.R10L|SEC24C_ENST00000345254.4_Missense_Mutation_p.R762L|SEC24C_ENST00000540668.1_Missense_Mutation_p.R10L|SEC24C_ENST00000411652.2_Missense_Mutation_p.R643L	p.R762L	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			18	2447	+	Prostate(51;0.0112)		762					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.2285G>T	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138571	0.94560	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87	5.72	5.72	0.89469	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	D	0.90356	0.6982	H	0.94462	3.54	0.80722	D	1	D;D;D	0.69078	0.967;0.99;0.997	P;P;D	0.69142	0.732;0.806;0.962	D	0.92411	0.5937	10	0.87932	D	0	-4.2886	19.8791	0.96888	0.0:0.0:1.0:0.0	.	643;762;762	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	L	10;762;10;762;643	ENSP00000446174:R10L;ENSP00000321845:R762L;ENSP00000445023:R10L;ENSP00000343405:R762L;ENSP00000402913:R643L	ENSP00000343405:R762L	R	+	2	0	SEC24C	75198777	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.706000	0.92434	0.467000	0.42956	CGT		0.507	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			4	29	1	0	0.184627	1	0.186707	4	29				
STK33	65975	broad.mit.edu	37	11	8494769	8494769	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:8494769C>A	ENST00000447869.1	-	2	1198	c.280G>T	c.(280-282)Ggc>Tgc	p.G94C	STK33_ENST00000358872.3_Intron|STK33_ENST00000396673.1_Missense_Mutation_p.G94C|STK33_ENST00000396672.1_Missense_Mutation_p.G94C|STK33_ENST00000534493.1_Missense_Mutation_p.G53C|STK33_ENST00000315204.1_Missense_Mutation_p.G94C			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	94					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GTAAAGTTGCCCCGACCCCAT	0.368																																						ENST00000447869.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23						c.(280-282)Ggc>Tgc		serine/threonine kinase 33							156.0	153.0	154.0					11																	8494769		2201	4296	6497	SO:0001583	missense	65975					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8494769C>A	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.280G>T	11.37:g.8494769C>A	ENSP00000416750:p.Gly94Cys					STK33_ENST00000396673.1_Missense_Mutation_p.G94C|STK33_ENST00000358872.3_Intron|STK33_ENST00000315204.1_Missense_Mutation_p.G94C|STK33_ENST00000396672.1_Missense_Mutation_p.G94C|STK33_ENST00000534493.1_Missense_Mutation_p.G53C	p.G94C			Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	2	1198	-			94					Q658S6|Q8NEF5	Missense_Mutation	SNP	ENST00000447869.1	37	c.280G>T	CCDS7789.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955311	0.53293	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000396673;ENST00000534493;ENST00000524760;ENST00000418597;ENST00000422559;ENST00000457885	T;T;T;T;T;T;T;T;T	0.76060	-0.6;-0.6;-0.6;-0.59;-0.56;-0.99;-0.37;0.29;1.35	5.41	-1.34	0.09143	.	0.753768	0.13197	N	0.406279	T	0.72366	0.3451	L	0.54323	1.7	0.09310	N	1	D	0.63880	0.993	P	0.53185	0.72	T	0.62964	-0.6742	10	0.52906	T	0.07	.	6.0787	0.19928	0.1251:0.4829:0.0:0.392	.	94	Q9BYT3	STK33_HUMAN	C	94;94;94;94;53;44;53;53;94	ENSP00000416750:G94C;ENSP00000320754:G94C;ENSP00000379905:G94C;ENSP00000379906:G94C;ENSP00000436418:G53C;ENSP00000436905:G44C;ENSP00000391362:G53C;ENSP00000411510:G53C;ENSP00000403599:G94C	ENSP00000320754:G94C	G	-	1	0	STK33	8451345	0.000000	0.05858	0.064000	0.19789	0.955000	0.61496	-1.448000	0.02394	-0.123000	0.11745	0.585000	0.79938	GGC		0.368	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		12	112	1	0	9.31168e-06	1	1.13653e-05	12	112				
ASB2	51676	broad.mit.edu	37	14	94423168	94423168	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:94423168C>A	ENST00000315988.4	-	1	599	c.111G>T	c.(109-111)ttG>ttT	p.L37F	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000555019.1_Missense_Mutation_p.L85F	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	37					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CCCCTTGGAACAAGCCCATTG	0.577																																						ENST00000555019.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(253-255)ttG>ttT		ankyrin repeat and SOCS box containing 2							73.0	74.0	74.0					14																	94423168		2203	4300	6503	SO:0001583	missense	51676				intracellular signal transduction			g.chr14:94423168C>A	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.111G>T	14.37:g.94423168C>A	ENSP00000320675:p.Leu37Phe					ASB2_ENST00000315988.4_Missense_Mutation_p.L37F|ASB2_ENST00000556337.1_Intron	p.L85F	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	3	685	-		all_cancers(154;0.13)	37					B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	c.255G>T	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.994382	0.35226	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000555287	T;T;T	0.69175	-0.38;-0.38;2.02	5.42	3.53	0.40419	.	0.467204	0.19027	N	0.124653	T	0.48390	0.1497	N	0.24115	0.695	0.30071	N	0.810063	B;P	0.49961	0.294;0.93	B;B	0.41571	0.084;0.36	T	0.54002	-0.8358	10	0.72032	D	0.01	-0.1124	5.4619	0.16622	0.0:0.642:0.1761:0.1819	.	85;37	B4E166;Q96Q27	.;ASB2_HUMAN	F	85;53;37;3	ENSP00000451575:L85F;ENSP00000320675:L37F;ENSP00000451654:L3F	ENSP00000320675:L37F	L	-	3	2	ASB2	93492921	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	1.601000	0.36773	1.241000	0.43820	0.655000	0.94253	TTG		0.577	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			8	97	1	0	1.26484e-09	1	1.77122e-09	8	97				
ZFHX4	79776	broad.mit.edu	37	8	77764186	77764186	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:77764186G>T	ENST00000521891.2	+	10	5477	c.5029G>T	c.(5029-5031)Gat>Tat	p.D1677Y	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D1632Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D1632Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D1651Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1632	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.D1677N(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCAAACTCCTGATTTAATCTC	0.433										HNSCC(33;0.089)																												ENST00000521891.2																			1	Substitution - Missense(1)	p.D1677N(1)	skin(1)	NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(5029-5031)Gat>Tat		zinc finger homeobox 4							95.0	95.0	95.0					8																	77764186		1982	4169	6151	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764186G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5029G>T	8.37:g.77764186G>T	ENSP00000430497:p.Asp1677Tyr	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Missense_Mutation_p.D1651Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D1632Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D1632Y	p.D1677Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5477	+			1632			Gln-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.5029G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	9.343	1.063453	0.20067	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52754	0.65;0.71;0.68;0.67	4.41	4.41	0.53225	.	0.298286	0.23476	U	0.047769	T	0.42494	0.1205	L	0.34521	1.04	0.41851	D	0.99017	P;P;P	0.39022	0.524;0.655;0.655	B;P;P	0.46049	0.305;0.502;0.502	T	0.19614	-1.0300	10	0.02654	T	1	.	17.537	0.87834	0.0:0.0:1.0:0.0	.	1632;1632;1677	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Y	1677;1677;1632;1632;1651	ENSP00000430497:D1677Y;ENSP00000399605:D1632Y;ENSP00000050961:D1632Y;ENSP00000430848:D1651Y	ENSP00000050961:D1632Y	D	+	1	0	ZFHX4	77926741	1.000000	0.71417	0.645000	0.29479	0.903000	0.53119	7.309000	0.78937	2.456000	0.83038	0.542000	0.68232	GAT		0.433	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		6	67	1	0	5.9392e-07	1	7.60519e-07	6	67				
RAB3GAP2	25782	broad.mit.edu	37	1	220364471	220364471	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:220364471C>T	ENST00000358951.2	-	14	1542	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	476					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CTCCACACTTCTAAAATTCCC	0.478																																						ENST00000358951.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(1426-1428)Gaa>Aaa		RAB3 GTPase activating protein subunit 2 (non-catalytic)							136.0	134.0	135.0					1																	220364471		2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220364471C>T	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.1426G>A	1.37:g.220364471C>T	ENSP00000351832:p.Glu476Lys						p.E476K	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	14	1542	-			476					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.1426G>A	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	C	36	5.730036	0.96856	.	.	ENSG00000118873	ENST00000358951	D	0.89681	-2.55	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.93468	0.7916	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93593	0.6923	10	0.72032	D	0.01	.	19.6981	0.96039	0.0:1.0:0.0:0.0	.	476	Q9H2M9	RBGPR_HUMAN	K	476	ENSP00000351832:E476K	ENSP00000351832:E476K	E	-	1	0	RAB3GAP2	218431094	1.000000	0.71417	0.955000	0.39395	0.992000	0.81027	7.187000	0.77730	2.665000	0.90641	0.558000	0.71614	GAA		0.478	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		8	116	0	0	0	1	0	8	116				
INTS10	55174	broad.mit.edu	37	8	19681556	19681556	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:19681556G>T	ENST00000397977.3	+	7	1234		c.e7+1			NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10						snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AAGGAAGACGGTAATAAATAG	0.353																																						ENST00000397977.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.e7+1		integrator complex subunit 10							113.0	107.0	109.0					8																	19681556		1855	4089	5944	SO:0001630	splice_region_variant	55174				snRNA processing	integrator complex	protein binding	g.chr8:19681556G>T	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.836+1G>T	8.37:g.19681556G>T								NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	7	1234	+								Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Splice_Site	SNP	ENST00000397977.3	37		CCDS6011.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100309	0.76983	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5013	0.90882	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	INTS10	19725836	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.149000	0.77396	2.717000	0.92951	0.650000	0.86243	.		0.353	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142	Intron	6	99	1	0	0.00198382	1	0.00216905	6	99				
IL21	59067	broad.mit.edu	37	4	123542011	123542011	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:123542011A>C	ENST00000264497.3	-	1	213	c.156T>G	c.(154-156)taT>taG	p.Y52*	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	45					cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						AGTCATTCACATAATTTTTCA	0.343																																						ENST00000264497.3																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						c.(154-156)taT>taG		interleukin 21							106.0	104.0	104.0					4																	123542011		2203	4300	6503	SO:0001587	stop_gained	59067				cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding	g.chr4:123542011A>C	AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684		"""Interleukins and interleukin receptors"""	6005	protein-coding gene	gene with protein product		605384				11081504, 17947662	Standard	NM_001207006		Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.156T>G	4.37:g.123542011A>C	ENSP00000264497:p.Tyr52*					IL21-AS1_ENST00000417927.1_RNA	p.Y52*	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN			1	213	-			45					A5J0L4	Nonsense_Mutation	SNP	ENST00000264497.3	37	c.156T>G	CCDS3727.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.795658	0.90453	.	.	ENSG00000138684	ENST00000264497	.	.	.	5.53	3.16	0.36331	.	0.604116	0.15130	N	0.278891	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5988	4.2911	0.10879	0.6961:0.0:0.1562:0.1476	.	.	.	.	X	52	.	ENSP00000264497:Y52X	Y	-	3	2	IL21	123761461	0.719000	0.27986	1.000000	0.80357	0.982000	0.71751	0.854000	0.27791	0.946000	0.37632	-0.250000	0.11733	TAT		0.343	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256713.1	NM_021803		6	63	0	0	0	1	0	6	63				
SPAG5	10615	broad.mit.edu	37	17	26905515	26905515	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:26905515C>A	ENST00000321765.5	-	21	3562	c.3230G>T	c.(3229-3231)cGc>cTc	p.R1077L	ALDOC_ENST00000226253.4_5'Flank|ALDOC_ENST00000395319.3_5'Flank|ALDOC_ENST00000395321.2_5'Flank	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	1077					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CCGAAGTGAGCGGGTAAGGTG	0.547																																						ENST00000321765.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(3229-3231)cGc>cTc		sperm associated antigen 5							72.0	74.0	73.0					17																	26905515		2203	4300	6503	SO:0001583	missense	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26905515C>A	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.3230G>T	17.37:g.26905515C>A	ENSP00000323300:p.Arg1077Leu						p.R1077L	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN			21	3562	-	Lung NSC(42;0.00431)		1077					O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	c.3230G>T	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	c	18.12	3.554230	0.65425	.	.	ENSG00000076382	ENST00000321765	T	0.28895	1.59	5.45	3.42	0.39159	.	0.246545	0.27504	N	0.019066	T	0.36054	0.0953	L	0.32530	0.975	0.19300	N	0.999978	D	0.69078	0.997	P	0.60345	0.873	T	0.06373	-1.0830	10	0.49607	T	0.09	-2.6024	9.2994	0.37835	0.0:0.8288:0.0:0.1712	.	1077	Q96R06	SPAG5_HUMAN	L	1077	ENSP00000323300:R1077L	ENSP00000323300:R1077L	R	-	2	0	SPAG5	23929642	0.553000	0.26513	1.000000	0.80357	0.978000	0.69477	0.396000	0.20867	1.278000	0.44430	0.651000	0.88453	CGC		0.547	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		18	95	1	0	1.01871e-10	1	1.45943e-10	18	95				
SLC26A7	115111	broad.mit.edu	37	8	92406494	92406494	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:92406494C>T	ENST00000309536.2	+	19	2204	c.1984C>T	c.(1984-1986)Ccg>Tcg	p.P662S	SLC26A7_ENST00000520249.1_Intron|SLC26A7_ENST00000523719.1_Intron|SLC26A7_ENST00000276609.3_Intron	NM_134266.1	NP_599028.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AACAATGCCACCGCTCTGAGG	0.413																																						ENST00000309536.2																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1984-1986)Ccg>Tcg		solute carrier family 26 (anion exchanger), member 7							88.0	87.0	88.0					8																	92406494		2203	4300	6503	SO:0001583	missense	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92406494C>T	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000309536.2:c.1984C>T	8.37:g.92406494C>T	ENSP00000309504:p.Pro662Ser					SLC26A7_ENST00000276609.3_Intron|SLC26A7_ENST00000520249.1_Intron|SLC26A7_ENST00000523719.1_Intron	p.P662S	NM_134266.1	NP_599028.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		19	2204	+			0						Missense_Mutation	SNP	ENST00000309536.2	37	c.1984C>T	CCDS6255.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244345	0.22796	.	.	ENSG00000147606	ENST00000309536	D	0.92199	-2.99	4.85	0.949	0.19566	.	1.028200	0.07842	N	0.963202	D	0.86896	0.6043	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.73777	-0.3876	9	0.49607	T	0.09	.	6.9517	0.24548	0.0:0.5961:0.0:0.4039	.	662	Q8TE54-2	.	S	662	ENSP00000309504:P662S	ENSP00000309504:P662S	P	+	1	0	SLC26A7	92475670	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.402000	0.07223	-0.039000	0.13602	0.563000	0.77884	CCG		0.413	SLC26A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377012.1			6	33	0	0	0	1	0	6	33				
CNTNAP5	129684	broad.mit.edu	37	2	125521323	125521323	+	Missense_Mutation	SNP	G	G	A	rs62171340		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:125521323G>A	ENST00000431078.1	+	15	2670	c.2306G>A	c.(2305-2307)aGa>aAa	p.R769K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	769	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GATACCGACAGATCAAACTCA	0.413																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2305-2307)aGa>aAa		contactin associated protein-like 5							84.0	79.0	81.0					2																	125521323		1853	4101	5954	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125521323G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2306G>A	2.37:g.125521323G>A	ENSP00000399013:p.Arg769Lys						p.R769K	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	15	2670	+			769			Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2306G>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	36	5.601885	0.96614	.	.	ENSG00000155052	ENST00000431078	T	0.17528	2.27	5.57	5.57	0.84162	.	0.000000	0.56097	D	0.000035	T	0.24967	0.0606	M	0.85373	2.75	0.80722	D	1	P	0.41313	0.745	B	0.34931	0.192	T	0.20672	-1.0268	10	0.15499	T	0.54	.	18.9255	0.92541	0.0:0.0:1.0:0.0	rs62171340	769	Q8WYK1	CNTP5_HUMAN	K	769	ENSP00000399013:R769K	ENSP00000399013:R769K	R	+	2	0	CNTNAP5	125237793	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.726000	0.98782	2.804000	0.96469	0.655000	0.94253	AGA		0.413	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			4	21	0	0	0	1	0	4	21				
ATP6V0A4	50617	broad.mit.edu	37	7	138432261	138432261	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:138432261C>A	ENST00000310018.2	-	13	1511	c.1229G>T	c.(1228-1230)gGa>gTa	p.G410V	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.G410V|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.G410V	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	410					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACCACAGTCTCCAAACATCAC	0.567																																						ENST00000310018.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1228-1230)gGa>gTa		ATPase, H+ transporting, lysosomal V0 subunit a4							118.0	92.0	101.0					7																	138432261		2203	4300	6503	SO:0001583	missense	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138432261C>A	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1229G>T	7.37:g.138432261C>A	ENSP00000308122:p.Gly410Val					ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.G410V|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.G410V	p.G410V	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN			13	1511	-			410					A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.1229G>T	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948136	0.73787	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.92249	-3.0;-3.0;-3.0	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.97732	0.9256	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99278	1.0895	10	0.87932	D	0	-20.2008	18.7224	0.91700	0.0:1.0:0.0:0.0	.	410	Q9HBG4	VPP4_HUMAN	V	410	ENSP00000308122:G410V;ENSP00000376774:G410V;ENSP00000253856:G410V	ENSP00000308122:G410V	G	-	2	0	ATP6V0A4	138082801	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	7.773000	0.85462	2.426000	0.82243	0.561000	0.74099	GGA		0.567	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		15	45	1	0	2.32078e-09	1	3.23309e-09	15	45				
SORCS1	114815	broad.mit.edu	37	10	108378007	108378007	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:108378007G>C	ENST00000263054.6	-	21	2827	c.2820C>G	c.(2818-2820)agC>agG	p.S940R	SORCS1_ENST00000369698.1_Missense_Mutation_p.S475R|SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000344440.6_Missense_Mutation_p.S940R	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	940					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGAAGGATATGCTTCCCTCCA	0.453																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(2818-2820)agC>agG		sortilin-related VPS10 domain containing receptor 1							155.0	125.0	135.0					10																	108378007		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108378007G>C	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2820C>G	10.37:g.108378007G>C	ENSP00000263054:p.Ser940Arg					SORCS1_ENST00000344440.6_Missense_Mutation_p.S940R|SORCS1_ENST00000369698.1_Missense_Mutation_p.S475R|SORCS1_ENST00000478809.2_5'UTR	p.S940R	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	21	2827	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	940					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2820C>G	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867513	0.51588	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.44881	0.91;0.91;0.91	5.35	3.43	0.39272	PKD/Chitinase domain (1);PKD domain (1);	0.149132	0.64402	D	0.000019	T	0.62245	0.2412	M	0.81341	2.54	0.37197	D	0.9042	D;D;D;D;D	0.71674	0.992;0.995;0.998;0.992;0.998	P;D;D;P;D	0.71656	0.84;0.923;0.974;0.84;0.974	T	0.67960	-0.5535	9	.	.	.	-21.028	10.6174	0.45458	0.1628:0.0:0.8372:0.0	.	940;940;940;940;940	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	R	475;940;940	ENSP00000358712:S475R;ENSP00000263054:S940R;ENSP00000345964:S940R	.	S	-	3	2	SORCS1	108367997	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	2.267000	0.43329	0.576000	0.29452	0.555000	0.69702	AGC		0.453	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		7	45	0	0	0	1	0	7	45				
RUSC2	9853	broad.mit.edu	37	9	35560590	35560590	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:35560590G>A	ENST00000455600.1	+	10	4522	c.3953G>A	c.(3952-3954)cGa>cAa	p.R1318Q	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1318						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCACCACCCCGAGAGGGAGTA	0.662																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3952-3954)cGa>cAa		RUN and SH3 domain containing 2							16.0	20.0	19.0					9																	35560590		2190	4281	6471	SO:0001583	missense	9853					cytosol		g.chr9:35560590G>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.3953G>A	9.37:g.35560590G>A	ENSP00000393922:p.Arg1318Gln						p.R1318Q	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		10	4522	+			1318					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.3953G>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664641	0.88251	.	.	ENSG00000198853	ENST00000361226;ENST00000455600	T;T	0.48836	0.8;0.8	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.59101	0.2169	L	0.34521	1.04	0.58432	D	0.999994	D	0.89917	1.0	D	0.80764	0.994	T	0.56721	-0.7932	10	0.38643	T	0.18	-9.3409	17.9925	0.89172	0.0:0.0:1.0:0.0	.	1318	Q8N2Y8	RUSC2_HUMAN	Q	1318	ENSP00000355177:R1318Q;ENSP00000393922:R1318Q	ENSP00000355177:R1318Q	R	+	2	0	RUSC2	35550590	1.000000	0.71417	0.596000	0.28811	0.990000	0.78478	9.646000	0.98474	2.492000	0.84095	0.561000	0.74099	CGA		0.662	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		8	32	0	0	0	1	0	8	32				
ONECUT2	9480	broad.mit.edu	37	18	55103312	55103312	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:55103312G>C	ENST00000491143.2	+	1	396	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	122					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CTACCGGCCCGAGCTCTCCAT	0.701																																						ENST00000491143.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15						c.(364-366)Gag>Cag		one cut homeobox 2							24.0	30.0	28.0					18																	55103312		2197	4293	6490	SO:0001583	missense	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55103312G>C	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.364G>C	18.37:g.55103312G>C	ENSP00000419185:p.Glu122Gln						p.E122Q	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	1	396	+		Colorectal(73;0.234)	122						Missense_Mutation	SNP	ENST00000491143.2	37	c.364G>C	CCDS42440.1	.	.	.	.	.	.	.	.	.	.	g	16.46	3.129817	0.56721	.	.	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	2.2	2.2	0.27929	.	0.000000	0.53938	U	0.000045	T	0.43897	0.1268	L	0.31926	0.97	0.43662	D	0.99608	D	0.63880	0.993	P	0.48654	0.585	T	0.21381	-1.0247	9	0.22109	T	0.4	.	11.1195	0.48281	0.0:0.0:1.0:0.0	.	122	O95948	ONEC2_HUMAN	Q	103;122	.	ENSP00000262095:E122Q	E	+	1	0	ONECUT2	53254310	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.734000	0.74801	1.062000	0.40625	0.298000	0.19748	GAG		0.701	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			7	21	0	0	0	1	0	7	21				
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	tumor protein p53							102.0	94.0	97.0					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	791	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	27	0	0	0	1	0	8	27				
ARHGEF10L	55160	broad.mit.edu	37	1	18023700	18023700	+	Missense_Mutation	SNP	G	G	C	rs200620479		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:18023700G>C	ENST00000361221.3	+	29	3824	c.3665G>C	c.(3664-3666)cGc>cCc	p.R1222P	ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.R995P|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.R1183P|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.R1183P|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.R925P|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1222						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ATCTGGGTGCGCAGCCGGCCC	0.682																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3664-3666)cGc>cCc		Rho guanine nucleotide exchange factor (GEF) 10-like							18.0	20.0	19.0					1																	18023700		2186	4264	6450	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:18023700G>C	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.3665G>C	1.37:g.18023700G>C	ENSP00000355060:p.Arg1222Pro					ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.R1183P|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.R995P|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.R1183P|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.R925P	p.R1222P	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	29	3824	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	1222					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.3665G>C	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053811	0.55218	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000375415;ENST00000375408;ENST00000167825	T;T;T;T;T	0.63744	0.17;0.24;0.24;-0.06;2.2	4.89	3.98	0.46160	.	0.170979	0.38381	N	0.001713	T	0.73575	0.3604	M	0.68593	2.085	0.48511	D	0.999667	B;D;B;B;D;D	0.76494	0.418;0.999;0.072;0.357;0.976;0.995	B;D;B;B;D;P	0.72625	0.116;0.978;0.072;0.29;0.927;0.847	T	0.72030	-0.4413	10	0.39692	T	0.17	-13.4323	10.2477	0.43352	0.094:0.0:0.906:0.0	.	995;925;983;1178;1183;1222	Q5VXI4;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;ARGAL_HUMAN	P	1222;1183;1183;995;925	ENSP00000355060:R1222P;ENSP00000399401:R1183P;ENSP00000364564:R1183P;ENSP00000364557:R995P;ENSP00000167825:R925P	ENSP00000167825:R925P	R	+	2	0	ARHGEF10L	17896287	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.970000	0.70431	1.037000	0.40024	0.655000	0.94253	CGC		0.682	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		6	41	0	0	0	1	0	6	41				
GRIN2A	2903	broad.mit.edu	37	16	9858458	9858458	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:9858458C>T	ENST00000396573.2	-	14	3252	c.2943G>A	c.(2941-2943)caG>caA	p.Q981Q	GRIN2A_ENST00000396575.2_Silent_p.Q981Q|GRIN2A_ENST00000535259.1_Silent_p.Q824Q|GRIN2A_ENST00000330684.3_Silent_p.Q981Q|GRIN2A_ENST00000404927.2_Silent_p.Q981Q|GRIN2A_ENST00000562109.1_Silent_p.Q981Q	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	981					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GATGTTGTCCCTGGAATACAT	0.493																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(2941-2943)caG>caA		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						135.0	117.0	123.0					16																	9858458		2197	4300	6497	SO:0001819	synonymous_variant	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858458C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2943G>A	16.37:g.9858458C>T						GRIN2A_ENST00000396575.2_Silent_p.Q981Q|GRIN2A_ENST00000404927.2_Silent_p.Q981Q|GRIN2A_ENST00000562109.1_Silent_p.Q981Q|GRIN2A_ENST00000330684.3_Silent_p.Q981Q|GRIN2A_ENST00000535259.1_Silent_p.Q824Q	p.Q981Q	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	3252	-			981					O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.2943G>A	CCDS10539.1																																																																																				0.493	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			13	96	0	0	0	1	0	13	96				
SEMA3D	223117	broad.mit.edu	37	7	84642107	84642107	+	Missense_Mutation	SNP	T	T	A	rs545463042		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:84642107T>A	ENST00000284136.6	-	15	1802	c.1759A>T	c.(1759-1761)Atc>Ttc	p.I587F	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	587					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CTGTCTTCGATGTCCCAGCAC	0.388																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(1759-1761)Atc>Ttc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							134.0	124.0	127.0					7																	84642107		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84642107T>A	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1759A>T	7.37:g.84642107T>A	ENSP00000284136:p.Ile587Phe					SEMA3D_ENST00000484038.1_5'UTR	p.I587F	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			15	1802	-			587					A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.1759A>T	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	T	5.302	0.241018	0.10077	.	.	ENSG00000153993	ENST00000284136	T	0.30448	1.53	5.93	1.96	0.26148	.	0.352724	0.32401	N	0.006155	T	0.08891	0.0220	N	0.02539	-0.55	0.80722	D	1	B	0.22346	0.068	B	0.17433	0.018	T	0.29852	-0.9998	10	0.02654	T	1	.	7.2244	0.26007	0.0:0.4415:0.0:0.5585	.	587	O95025	SEM3D_HUMAN	F	587	ENSP00000284136:I587F	ENSP00000284136:I587F	I	-	1	0	SEMA3D	84480043	1.000000	0.71417	0.971000	0.41717	0.951000	0.60555	1.084000	0.30828	0.516000	0.28340	0.533000	0.62120	ATC		0.388	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		11	55	0	0	0	1	0	11	55				
LDLRAD4	753	broad.mit.edu	37	18	13621215	13621215	+	Missense_Mutation	SNP	G	G	C	rs371734327		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:13621215G>C	ENST00000359446.5	+	4	749	c.281G>C	c.(280-282)cGg>cCg	p.R94P	LDLRAD4_ENST00000399848.3_Missense_Mutation_p.R94P|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.R94P|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.R57P|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.R57P|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.R17P	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	94					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										GTCTCCACGCGGTCCTTCATC	0.637																																						ENST00000361205.4																			0											c.(280-282)cGg>cCg		low density lipoprotein receptor class A domain containing 4							131.0	103.0	112.0					18																	13621215		2203	4300	6503	SO:0001583	missense	753							g.chr18:13621215G>C	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.281G>C	18.37:g.13621215G>C	ENSP00000352420:p.Arg94Pro					LDLRAD4_ENST00000359446.5_Missense_Mutation_p.R94P|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.R57P|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.R17P|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.R57P|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.R94P	p.R94P	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1					5	949	+								B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.281G>C	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483964	0.84854	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.33654	1.4;1.5	5.58	4.71	0.59529	.	0.060371	0.64402	D	0.000001	T	0.57533	0.2060	M	0.77103	2.36	0.40515	D	0.980779	D;D;D;D;D;D	0.71674	0.99;0.996;0.99;0.998;0.986;0.989	P;P;P;P;P;P	0.61800	0.706;0.838;0.706;0.838;0.894;0.838	T	0.65129	-0.6243	10	0.72032	D	0.01	-1.0E-4	13.8816	0.63686	0.0738:0.0:0.9262:0.0	.	36;36;57;57;94;94	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	P	94;94;57;57;36;36	ENSP00000354753:R94P;ENSP00000382741:R94P	ENSP00000352420:R57P	R	+	2	0	C18orf1	13611215	1.000000	0.71417	0.573000	0.28510	0.989000	0.77384	6.069000	0.71209	1.378000	0.46305	0.655000	0.94253	CGG		0.637	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		10	124	0	0	0	1	0	10	124				
UTRN	7402	broad.mit.edu	37	6	144757140	144757140	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:144757140A>G	ENST00000367545.3	+	9	925	c.925A>G	c.(925-927)Atg>Gtg	p.M309V		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	309	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGAGGTTGACATGGATCTGGA	0.498																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(925-927)Atg>Gtg		utrophin							139.0	117.0	125.0					6																	144757140		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144757140A>G	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.925A>G	6.37:g.144757140A>G	ENSP00000356515:p.Met309Val						p.M309V	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	9	925	+		Ovarian(120;0.218)	309			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.925A>G	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	0.091	-1.167665	0.01660	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.57273	0.41	5.77	2.06	0.26882	.	0.262193	0.33144	N	0.005221	T	0.07143	0.0181	N	0.01640	-0.785	0.80722	D	1	B	0.10296	0.003	B	0.12837	0.008	T	0.41787	-0.9489	10	0.02654	T	1	.	11.9042	0.52701	0.8187:0.0:0.1813:0.0	.	309	P46939	UTRO_HUMAN	V	309	ENSP00000356515:M309V	ENSP00000356499:M309V	M	+	1	0	UTRN	144798833	1.000000	0.71417	0.570000	0.28473	0.147000	0.21601	2.798000	0.47884	-0.047000	0.13423	-1.139000	0.01908	ATG		0.498	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			14	60	0	0	0	1	0	14	60				
ZNF208	7757	broad.mit.edu	37	19	22155727	22155727	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:22155727G>T	ENST00000397126.4	-	4	2257	c.2109C>A	c.(2107-2109)aaC>aaA	p.N703K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	703					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGAGGACCAGTTGAAAGCTT	0.378																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2107-2109)aaC>aaA		zinc finger protein 208							37.0	38.0	38.0					19																	22155727		2007	4196	6203	SO:0001583	missense	7757							g.chr19:22155727G>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2109C>A	19.37:g.22155727G>T	ENSP00000380315:p.Asn703Lys					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.N703K	NM_007153.3	NP_009084.2					4	2257	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2109C>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	0.123	-1.122867	0.01785	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07327	3.2	2.43	-3.82	0.04281	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04182	0.0116	.	.	.	0.09310	N	1	B	0.27997	0.197	B	0.28139	0.086	T	0.42327	-0.9458	8	0.32370	T	0.25	.	1.3496	0.02170	0.2913:0.1657:0.3789:0.1641	.	603	O43345	ZN208_HUMAN	K	703;603	ENSP00000380315:N703K	ENSP00000380315:N703K	N	-	3	2	ZNF208	21947567	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-5.769000	0.00099	-0.568000	0.06038	0.280000	0.19369	AAC		0.378	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		5	45	1	0	1.23904e-05	1	1.49648e-05	5	45				
EIF4G1	1981	broad.mit.edu	37	3	184041346	184041346	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:184041346C>T	ENST00000346169.2	+	15	2510	c.2239C>T	c.(2239-2241)Cga>Tga	p.R747*	EIF4G1_ENST00000435046.2_Nonsense_Mutation_p.R551*|EIF4G1_ENST00000350481.5_Nonsense_Mutation_p.R583*|EIF4G1_ENST00000434061.2_Nonsense_Mutation_p.R552*|EIF4G1_ENST00000392537.2_Nonsense_Mutation_p.R660*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.R754*|EIF4G1_ENST00000441154.1_Nonsense_Mutation_p.R584*|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.R754*|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.R708*|EIF4G1_ENST00000427845.1_Nonsense_Mutation_p.R661*|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.R707*|EIF4G1_ENST00000342981.4_Nonsense_Mutation_p.R748*|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.R754*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.R747*	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	747	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.|eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGATAAGGATCGAGGGGAAGA	0.502																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(2242-2244)Cga>Tga		eukaryotic translation initiation factor 4 gamma, 1							81.0	77.0	79.0					3																	184041346		2203	4300	6503	SO:0001587	stop_gained	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184041346C>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2239C>T	3.37:g.184041346C>T	ENSP00000316879:p.Arg747*					EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.R754*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.R754*|EIF4G1_ENST00000392537.2_Nonsense_Mutation_p.R660*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.R747*|EIF4G1_ENST00000346169.2_Nonsense_Mutation_p.R747*|EIF4G1_ENST00000441154.1_Nonsense_Mutation_p.R584*|EIF4G1_ENST00000435046.2_Nonsense_Mutation_p.R551*|EIF4G1_ENST00000434061.2_Nonsense_Mutation_p.R552*|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.R708*|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.R707*|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.R754*|EIF4G1_ENST00000350481.5_Nonsense_Mutation_p.R583*|EIF4G1_ENST00000427845.1_Nonsense_Mutation_p.R661*	p.R748*	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		14	2656	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		747			MIF4G.|eIF3/EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Nonsense_Mutation	SNP	ENST00000346169.2	37	c.2242C>T	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	36	5.716095	0.96830	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	.	.	.	5.86	4.97	0.65823	.	0.877603	0.10148	N	0.709957	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-6.1243	12.1738	0.54173	0.1709:0.8291:0.0:0.0	.	.	.	.	X	747;707;660;748;755;754;688;583;754;661;748;747;754;708;583;584;552;551	.	ENSP00000323737:R747X	R	+	1	2	EIF4G1	185524040	1.000000	0.71417	0.969000	0.41365	0.918000	0.54935	2.129000	0.42055	1.438000	0.47492	0.563000	0.77884	CGA		0.502	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		8	132	0	0	0	1	0	8	132				
CLUL1	27098	broad.mit.edu	37	18	641463	641463	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:641463G>A	ENST00000400606.2	+	7	1276	c.1131G>A	c.(1129-1131)aaG>aaA	p.K377K	CLUL1_ENST00000579494.1_Silent_p.K377K|CLUL1_ENST00000338387.7_Silent_p.K377K|CLUL1_ENST00000540035.1_Silent_p.K429K|CLUL1_ENST00000581619.1_Silent_p.K402K|C18orf56_ENST00000585033.1_Intron	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	377					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						TGGTGGAGAAGATGAGAGGGC	0.502																																						ENST00000581619.1																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						c.(1204-1206)aaG>aaA		clusterin-like 1 (retinal)							119.0	115.0	116.0					18																	641463		1943	4133	6076	SO:0001819	synonymous_variant	27098				cell death	extracellular region		g.chr18:641463G>A	D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.1131G>A	18.37:g.641463G>A						CLUL1_ENST00000338387.7_Silent_p.K377K|C18orf56_ENST00000585033.1_Intron|CLUL1_ENST00000400606.2_Silent_p.K377K|CLUL1_ENST00000579494.1_Silent_p.K377K|CLUL1_ENST00000540035.1_Silent_p.K429K	p.K402K			Q15846	CLUL1_HUMAN			7	2053	+			377					A0FDN7	Silent	SNP	ENST00000400606.2	37	c.1206G>A	CCDS42405.1																																																																																				0.502	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1			11	97	0	0	0	1	0	11	97				
EMR1	2015	broad.mit.edu	37	19	6903881	6903881	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:6903881G>T	ENST00000312053.4	+	7	759	c.722G>T	c.(721-723)aGc>aTc	p.S241I	EMR1_ENST00000381407.5_Missense_Mutation_p.S100I|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000250572.8_Missense_Mutation_p.S241I|EMR1_ENST00000381404.4_Missense_Mutation_p.S189I	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	241	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ACTCCTGGGAGCTACTTTTGC	0.488																																						ENST00000312053.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(721-723)aGc>aTc		egf-like module containing, mucin-like, hormone receptor-like 1							127.0	120.0	122.0					19																	6903881		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6903881G>T	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.722G>T	19.37:g.6903881G>T	ENSP00000311545:p.Ser241Ile					EMR1_ENST00000381407.5_Missense_Mutation_p.S100I|EMR1_ENST00000250572.8_Missense_Mutation_p.S241I|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000381404.4_Missense_Mutation_p.S189I	p.S241I	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN			7	759	+	all_hematologic(4;0.166)		241			EGF-like 5; calcium-binding (Potential).		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.722G>T	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130158	0.56721	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407	D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69	3.35	2.31	0.28768	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.97272	0.9108	M	0.92507	3.315	0.80722	D	1	D;D;D;D	0.67145	0.988;0.996;0.996;0.993	P;D;D;D	0.65773	0.828;0.919;0.938;0.914	D	0.95994	0.8988	9	0.49607	T	0.09	.	5.5712	0.17198	0.1496:0.0:0.8504:0.0	.	100;241;189;241	B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;EMR1_HUMAN	I	241;241;189;241;100	ENSP00000311545:S241I;ENSP00000370811:S189I;ENSP00000250572:S241I;ENSP00000370814:S100I	ENSP00000250572:S241I	S	+	2	0	EMR1	6854881	0.998000	0.40836	0.980000	0.43619	0.985000	0.73830	0.793000	0.26944	1.811000	0.52892	0.655000	0.94253	AGC		0.488	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			6	82	1	0	8.12818e-05	1	9.40913e-05	6	82				
ATP8A1	10396	broad.mit.edu	37	4	42445654	42445654	+	Silent	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:42445654G>C	ENST00000381668.5	-	33	3282	c.3051C>G	c.(3049-3051)ctC>ctG	p.L1017L	AC084010.1_ENST00000582816.1_RNA|ATP8A1_ENST00000264449.10_Silent_p.L1002L	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1017					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ACACCACCCAGAGTGCGATGC	0.448																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(3049-3051)ctC>ctG		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						122.0	109.0	113.0					4																	42445654		2203	4300	6503	SO:0001819	synonymous_variant	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42445654G>C	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.3051C>G	4.37:g.42445654G>C						ATP8A1_ENST00000264449.10_Silent_p.L1002L	p.L1017L	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			33	3282	-			1017					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Silent	SNP	ENST00000381668.5	37	c.3051C>G	CCDS3466.1																																																																																				0.448	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		4	33	0	0	0	1	0	4	33				
FSCB	84075	broad.mit.edu	37	14	44974106	44974106	+	Silent	SNP	G	G	T	rs567645072		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:44974106G>T	ENST00000340446.4	-	1	2376	c.2085C>A	c.(2083-2085)acC>acA	p.T695T	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	695						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGCAGCAAGGGTCTCTTCTA	0.567																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(2083-2085)acC>acA		fibrous sheath CABYR binding protein							41.0	48.0	46.0					14																	44974106		2202	4300	6502	SO:0001819	synonymous_variant	84075					cilium		g.chr14:44974106G>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2085C>A	14.37:g.44974106G>T							p.T695T	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2376	-			695					Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	ENST00000340446.4	37	c.2085C>A	CCDS9679.1																																																																																				0.567	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		8	35	1	0	1.06961e-07	1	1.40757e-07	8	35				
RPLP0P6	220717	broad.mit.edu	37	2	38709145	38709145	+	lincRNA	SNP	C	C	T	rs541901912	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:38709145C>T	ENST00000417039.1	-	0	696																											GCGGGAAGGTCGTGGTGCTGA	0.537													C|||	13	0.00259585	0.0091	0.0014	5008	,	,		20642	0.0		0.0	False		,,,				2504	0.0					ENST00000417039.1																			0																																																			220717							g.chr2:38709145C>T																													2.37:g.38709145C>T														0	696	-									RNA	SNP	ENST00000417039.1	37																																																																																						0.537	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			12	88	0	0	0	1	0	12	88				
KIAA1549	57670	broad.mit.edu	37	7	138597198	138597198	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:138597198T>C	ENST00000422774.1	-	3	2935	c.2887A>G	c.(2887-2889)Aga>Gga	p.R963G	KIAA1549_ENST00000440172.1_Missense_Mutation_p.R963G|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R913G			Q9HCM3	K1549_HUMAN	KIAA1549	963						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACAGCTCTTCTGGCCAGCACT	0.468			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(2887-2889)Aga>Gga		KIAA1549							121.0	114.0	116.0					7																	138597198		2014	4201	6215	SO:0001583	missense	57670					integral to membrane		g.chr7:138597198T>C		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.2887A>G	7.37:g.138597198T>C	ENSP00000416040:p.Arg963Gly					KIAA1549_ENST00000422774.1_Missense_Mutation_p.R963G|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R913G	p.R963G	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			3	2935	-			963					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.2887A>G	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	T	19.75	3.885333	0.72410	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.27256	1.68;1.68;1.68	5.38	-2.83	0.05769	.	0.084759	0.47455	D	0.000227	T	0.38692	0.1050	L	0.36672	1.1	0.37996	D	0.934066	D;D	0.89917	1.0;1.0	D;D	0.74348	0.963;0.983	T	0.43294	-0.9400	10	0.66056	D	0.02	.	19.655	0.95832	0.0:0.0:0.7246:0.2754	.	963;963	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	G	963;913;963	ENSP00000406661:R963G;ENSP00000242365:R913G;ENSP00000416040:R963G	ENSP00000242365:R913G	R	-	1	2	KIAA1549	138247738	0.225000	0.23685	0.726000	0.30738	0.995000	0.86356	0.026000	0.13599	-0.363000	0.08101	0.533000	0.62120	AGA		0.468	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			7	32	0	0	0	1	0	7	32				
MS4A13	503497	broad.mit.edu	37	11	60292741	60292741	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:60292741T>A	ENST00000378186.2	+	5	571	c.248T>A	c.(247-249)cTa>cAa	p.L83Q	MS4A13_ENST00000527948.1_Intron|MS4A13_ENST00000378185.2_Intron|MS4A13_ENST00000437058.2_Intron	NM_001012417.2	NP_001012417.2	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 13	127						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(1)|lung(2)|skin(2)	8						GCAGTAACTCTAACAATAATA	0.284																																						ENST00000378186.2																			0				endometrium(3)|large_intestine(1)|lung(2)|skin(2)	8						c.(247-249)cTa>cAa		membrane-spanning 4-domains, subfamily A, member 13							38.0	40.0	39.0					11																	60292741		2196	4270	6466	SO:0001583	missense	503497					integral to membrane		g.chr11:60292741T>A	AY324188	CCDS31571.1, CCDS41653.1, CCDS60801.1	11q12.2	2005-12-05	2005-12-05		ENSG00000204979	ENSG00000204979			16674	protein-coding gene	gene with protein product							Standard	NM_001012417		Approved		uc001nps.3	Q5J8X5	OTTHUMG00000167615	ENST00000378186.2:c.248T>A	11.37:g.60292741T>A	ENSP00000367428:p.Leu83Gln					MS4A13_ENST00000527948.1_Intron|MS4A13_ENST00000437058.2_Intron|MS4A13_ENST00000378185.2_Intron	p.L83Q	NM_001012417.2	NP_001012417.2	Q5J8X5	M4A13_HUMAN			5	571	+			83					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000378186.2	37	c.248T>A	CCDS31571.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744924	0.49151	.	.	ENSG00000204979	ENST00000378186	T	0.03607	3.87	4.55	4.55	0.56014	.	0.250701	0.20779	N	0.085825	T	0.16385	0.0394	M	0.78637	2.42	0.35423	D	0.793421	D	0.89917	1.0	D	0.79108	0.992	T	0.05920	-1.0856	10	0.87932	D	0	-1.9892	10.438	0.44448	0.0:0.0:0.0:1.0	.	83	Q5J8X5	M4A13_HUMAN	Q	83	ENSP00000367428:L83Q	ENSP00000367428:L83Q	L	+	2	0	MS4A13	60049317	0.048000	0.20356	0.042000	0.18584	0.069000	0.16628	3.161000	0.50747	2.023000	0.59567	0.477000	0.44152	CTA		0.284	MS4A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395408.1	NM_001012417		7	32	0	0	0	1	0	7	32				
PLEKHS1	79949	broad.mit.edu	37	10	115535551	115535551	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:115535551G>A	ENST00000369310.3	+	10	1519	c.957G>A	c.(955-957)gaG>gaA	p.E319E	PLEKHS1_ENST00000369312.4_Silent_p.E237E|PLEKHS1_ENST00000354462.3_Silent_p.E69E|PLEKHS1_ENST00000361048.1_Silent_p.E339E|PLEKHS1_ENST00000369309.1_Silent_p.E153E	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	333																	GCCAAGTGGAGAAACTGAACG	0.438																																						ENST00000354462.3																			0											c.(205-207)gaG>gaA		pleckstrin homology domain containing, family S member 1							157.0	142.0	147.0					10																	115535551		2203	4300	6503	SO:0001819	synonymous_variant	79949							g.chr10:115535551G>A	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.957G>A	10.37:g.115535551G>A						PLEKHS1_ENST00000361048.1_Silent_p.E339E|PLEKHS1_ENST00000369309.1_Silent_p.E153E|PLEKHS1_ENST00000369312.4_Silent_p.E237E|PLEKHS1_ENST00000369310.3_Silent_p.E319E	p.E69E							4	365	+								A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Silent	SNP	ENST00000369310.3	37	c.207G>A	CCDS53580.1	.	.	.	.	.	.	.	.	.	.	G	7.277	0.608294	0.14002	.	.	ENSG00000148735	ENST00000448805	T	0.29655	1.56	6.04	3.98	0.46160	.	0.165226	0.52532	N	0.000073	T	0.39145	0.1067	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29852	-0.9998	7	0.72032	D	0.01	-17.6838	6.2044	0.20593	0.2426:0.0:0.7574:0.0	.	.	.	.	K	50	ENSP00000390757:E50K	ENSP00000390757:E50K	E	+	1	0	C10orf81	115525541	1.000000	0.71417	0.979000	0.43373	0.707000	0.40811	2.063000	0.41423	1.568000	0.49683	0.561000	0.74099	GAA		0.438	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		7	72	0	0	0	1	0	7	72				
FAT3	120114	broad.mit.edu	37	11	92533905	92533905	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:92533905G>A	ENST00000298047.6	+	9	7743	c.7726G>A	c.(7726-7728)Gat>Aat	p.D2576N	FAT3_ENST00000409404.2_Missense_Mutation_p.D2576N|FAT3_ENST00000525166.1_Missense_Mutation_p.D2426N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2576	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAGGGCCCTTGATGGTGGAGG	0.473										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(7726-7728)Gat>Aat		FAT atypical cadherin 3							74.0	70.0	71.0					11																	92533905		1941	4154	6095	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533905G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7726G>A	11.37:g.92533905G>A	ENSP00000298047:p.Asp2576Asn	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.D2426N|FAT3_ENST00000409404.2_Missense_Mutation_p.D2576N	p.D2576N			Q8TDW7	FAT3_HUMAN			9	7743	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2576			Cadherin 23.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.7726G>A		.	.	.	.	.	.	.	.	.	.	G	21.9	4.215401	0.79352	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.65364	-0.15;-0.15;-0.15	6.17	5.26	0.73747	.	.	.	.	.	D	0.83769	0.5326	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87894	0.2686	9	0.66056	D	0.02	.	15.7563	0.78030	0.065:0.0:0.935:0.0	.	2576	Q8TDW7-3	.	N	2576;2576;2426	ENSP00000298047:D2576N;ENSP00000387040:D2576N;ENSP00000432586:D2426N	ENSP00000298047:D2576N	D	+	1	0	FAT3	92173553	1.000000	0.71417	0.885000	0.34714	0.844000	0.47949	9.787000	0.99055	1.626000	0.50381	0.655000	0.94253	GAT		0.473	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		11	44	0	0	0	1	0	11	44				
MIR377	494326	broad.mit.edu	37	14	101526152	101526152	+	RNA	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:101526152G>T	ENST00000362145.2	+	0	0				MIR154_ENST00000385243.1_RNA|MIR496_ENST00000385226.1_RNA	NR_029869.1				microRNA 377																		AATCATACACGGTTGACCTAT	0.507																																						ENST00000385243.1																			0																				216.0	198.0	203.0					14																	101526152		1568	3582	5150			406946							g.chr14:101526152G>T			14q32.31	2011-09-12		2008-12-18	ENSG00000199015	ENSG00000199015		"""ncRNAs / Micro RNAs"""	31870	non-coding RNA	RNA, micro				MIRN377			Standard	NR_029869		Approved	hsa-mir-377	uc010awh.1				14.37:g.101526152G>T								NR_029704.1						0	61	+									RNA	SNP	ENST00000362145.2	37																																																																																						0.507	MIR377-201	KNOWN	basic	miRNA	miRNA		NR_029869		13	102	1	0	4.3838e-07	1	5.63134e-07	13	102				
SNHG14	104472715	broad.mit.edu	37	15	25446281	25446281	+	RNA	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:25446281A>T	ENST00000424208.1	+	0	1857				SNORD115-16_ENST00000363887.1_RNA|SNORD115-17_ENST00000364612.1_RNA|SNORD115-18_ENST00000363293.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		CTGTTCCCCTAGACTGTGAAA	0.562																																						ENST00000424208.1																			0																																																			104472715							g.chr15:25446281A>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25446281A>T						SNHG14_ENST00000424333.1_RNA		NR_003305.1						0	1857	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.562	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			3	17	0	0	0	1	0	3	17				
WDPCP	51057	broad.mit.edu	37	2	63401895	63401895	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:63401895C>T	ENST00000272321.7	-	15	2515	c.1988G>A	c.(1987-1989)gGa>gAa	p.G663E	WDPCP_ENST00000398544.3_Missense_Mutation_p.G504E|WDPCP_ENST00000409199.1_Missense_Mutation_p.G471E|WDPCP_ENST00000409120.1_Missense_Mutation_p.G471E	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	663					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TGAGTCTTCTCCTTGAGGTGC	0.418																																						ENST00000409120.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						c.(1411-1413)gGa>gAa		WD repeat containing planar cell polarity effector							160.0	147.0	151.0					2																	63401895		1859	4092	5951	SO:0001583	missense	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63401895C>T		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1988G>A	2.37:g.63401895C>T	ENSP00000272321:p.Gly663Glu					WDPCP_ENST00000409199.1_Missense_Mutation_p.G471E|WDPCP_ENST00000398544.3_Missense_Mutation_p.G504E|WDPCP_ENST00000272321.7_Missense_Mutation_p.G663E	p.G471E			O95876	FRITZ_HUMAN			9	4962	-			663					Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	c.1412G>A	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752160	0.31046	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544	T;T;T;T	0.72505	-0.66;-0.08;-0.08;-0.08	5.51	1.29	0.21616	.	0.306550	0.22912	N	0.054126	T	0.50667	0.1629	L	0.29908	0.895	0.22034	N	0.999405	B;B	0.06786	0.001;0.0	B;B	0.08055	0.001;0.003	T	0.24657	-1.0154	10	0.21014	T	0.42	-1.6933	5.7207	0.17985	0.0:0.3929:0.4145:0.1925	.	663;504	O95876;O95876-3	FRITZ_HUMAN;.	E	663;471;471;504	ENSP00000272321:G663E;ENSP00000386592:G471E;ENSP00000386769:G471E;ENSP00000381552:G504E	ENSP00000272321:G663E	G	-	2	0	WDPCP	63255399	0.239000	0.23836	0.589000	0.28718	0.893000	0.52053	0.149000	0.16243	0.248000	0.21435	-0.428000	0.05917	GGA		0.418	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		11	88	0	0	0	1	0	11	88				
CD1A	909	broad.mit.edu	37	1	158225912	158225912	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:158225912G>A	ENST00000289429.5	+	3	977	c.444G>A	c.(442-444)tgG>tgA	p.W148*		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	148					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ACAATTCATGGTTGCCATATC	0.448																																						ENST00000289429.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(442-444)tgG>tgA		CD1a molecule	Antithymocyte globulin(DB00098)						100.0	92.0	95.0					1																	158225912		2203	4300	6503	SO:0001587	stop_gained	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158225912G>A	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.444G>A	1.37:g.158225912G>A	ENSP00000289429:p.Trp148*						p.W148*	NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN			3	977	+	all_hematologic(112;0.0378)		148					D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Nonsense_Mutation	SNP	ENST00000289429.5	37	c.444G>A	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	G	37	6.089475	0.97271	.	.	ENSG00000158477	ENST00000289429	.	.	.	4.2	2.27	0.28462	.	0.205357	0.24843	N	0.035150	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.775	7.005	0.24831	0.0:0.1925:0.6081:0.1994	.	.	.	.	X	148	.	ENSP00000289429:W148X	W	+	3	0	CD1A	156492536	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.347000	0.07750	0.408000	0.25621	-1.484000	0.00983	TGG		0.448	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		16	91	0	0	0	1	0	16	91				
TNR	7143	broad.mit.edu	37	1	175375691	175375691	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:175375691A>T	ENST00000367674.2	-	3	868	c.160T>A	c.(160-162)Tac>Aac	p.Y54N	TNR_ENST00000263525.2_Missense_Mutation_p.Y54N			Q92752	TENR_HUMAN	tenascin R	54					associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GATGTGTTGTAGTTGGCAATG	0.552																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(160-162)Tac>Aac		tenascin R							287.0	241.0	256.0					1																	175375691		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175375691A>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.160T>A	1.37:g.175375691A>T	ENSP00000356646:p.Tyr54Asn					TNR_ENST00000263525.2_Missense_Mutation_p.Y54N	p.Y54N	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			3	868	-	Renal(580;0.146)		54					C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.160T>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	A	4.076	0.011898	0.07912	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.28666	1.6;1.6	4.76	3.62	0.41486	.	0.290951	0.29355	N	0.012393	T	0.31949	0.0813	L	0.29908	0.895	0.09310	N	1	D;P	0.67145	0.996;0.454	P;B	0.57548	0.823;0.079	T	0.06516	-1.0822	10	0.32370	T	0.25	.	7.7106	0.28675	0.8346:0.0:0.1654:0.0	.	54;54	B4DIX8;Q92752	.;TENR_HUMAN	N	54	ENSP00000356646:Y54N;ENSP00000263525:Y54N	ENSP00000263525:Y54N	Y	-	1	0	TNR	173642314	1.000000	0.71417	0.019000	0.16419	0.095000	0.18619	3.356000	0.52269	0.841000	0.35020	0.459000	0.35465	TAC		0.552	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		15	188	0	0	0	1	0	15	188				
KIF21A	55605	broad.mit.edu	37	12	39745659	39745659	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:39745659G>A	ENST00000361418.5	-	11	1608	c.1593C>T	c.(1591-1593)gaC>gaT	p.D531D	KIF21A_ENST00000395670.3_Silent_p.D531D|KIF21A_ENST00000544797.2_Silent_p.D531D|KIF21A_ENST00000541463.2_Silent_p.D531D|KIF21A_ENST00000361961.3_Silent_p.D531D			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	531					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGGTTTCTTTGTCTGAGGATA	0.358																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(1591-1593)gaC>gaT		kinesin family member 21A							133.0	137.0	136.0					12																	39745659		2203	4300	6503	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39745659G>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1593C>T	12.37:g.39745659G>A						KIF21A_ENST00000544797.2_Silent_p.D531D|KIF21A_ENST00000361418.5_Silent_p.D531D|KIF21A_ENST00000361961.3_Silent_p.D531D|KIF21A_ENST00000541463.2_Silent_p.D531D	p.D531D			Q7Z4S6	KI21A_HUMAN			11	2012	-		Lung NSC(34;0.179)|all_lung(34;0.213)	531					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.1593C>T	CCDS53776.1																																																																																				0.358	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		9	90	0	0	0	1	0	9	90				
UBAP2L	9898	broad.mit.edu	37	1	154226498	154226498	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:154226498C>A	ENST00000361546.2	+	14	1829	c.1787C>A	c.(1786-1788)tCc>tAc	p.S596Y	UBAP2L_ENST00000428931.1_Missense_Mutation_p.S596Y|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S596Y|AL590431.1_ENST00000517008.1_RNA|UBAP2L_ENST00000271877.7_Missense_Mutation_p.S607Y			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	596					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAACAGAGATCCACACAGACT	0.502																																						ENST00000428931.1																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50						c.(1786-1788)tCc>tAc		ubiquitin associated protein 2-like							80.0	76.0	78.0					1																	154226498		2203	4300	6503	SO:0001583	missense	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154226498C>A	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1787C>A	1.37:g.154226498C>A	ENSP00000355343:p.Ser596Tyr					UBAP2L_ENST00000361546.2_Missense_Mutation_p.S596Y|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S596Y|UBAP2L_ENST00000271877.7_Missense_Mutation_p.S607Y	p.S596Y	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		15	1954	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		596					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	c.1787C>A	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123611	0.77436	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	T;T;T;T	0.16073	2.37;2.38;2.41;2.38	5.05	4.11	0.48088	.	0.264886	0.38605	N	0.001624	T	0.21674	0.0522	L	0.49126	1.545	0.39216	D	0.963416	B;D;B;B;B	0.64830	0.164;0.994;0.078;0.078;0.099	B;P;B;B;B	0.59825	0.037;0.864;0.04;0.04;0.037	T	0.00544	-1.1679	10	0.87932	D	0	-1.5609	13.1553	0.59514	0.0:0.921:0.0:0.079	.	510;607;589;596;596	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	Y	596;596;92;92;607;596	ENSP00000345308:S596Y;ENSP00000389445:S596Y;ENSP00000271877:S607Y;ENSP00000355343:S596Y	ENSP00000271877:S607Y	S	+	2	0	UBAP2L	152493122	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.532000	0.60608	2.623000	0.88846	0.655000	0.94253	TCC		0.502	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		6	61	1	0	0.0293803	1	0.0303184	6	61				
HEPH	9843	broad.mit.edu	37	X	65417576	65417576	+	Missense_Mutation	SNP	G	G	C	rs199768086		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:65417576G>C	ENST00000343002.2	+	9	2217	c.1553G>C	c.(1552-1554)cGc>cCc	p.R518P	HEPH_ENST00000374727.3_Missense_Mutation_p.R521P|HEPH_ENST00000441993.2_Missense_Mutation_p.R521P|HEPH_ENST00000519389.1_Missense_Mutation_p.R572P|HEPH_ENST00000336279.5_Missense_Mutation_p.R251P|HEPH_ENST00000419594.1_Intron			Q9BQS7	HEPH_HUMAN	hephaestin	518	Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GTAACATACCGCTGGACAGTC	0.473																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1714-1716)cGc>cCc		hephaestin							69.0	59.0	63.0					X																	65417576		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65417576G>C	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1553G>C	X.37:g.65417576G>C	ENSP00000343939:p.Arg518Pro					HEPH_ENST00000419594.1_Intron|HEPH_ENST00000336279.5_Missense_Mutation_p.R251P|HEPH_ENST00000343002.2_Missense_Mutation_p.R518P|HEPH_ENST00000441993.2_Missense_Mutation_p.R521P|HEPH_ENST00000374727.3_Missense_Mutation_p.R521P	p.R572P			Q9BQS7	HEPH_HUMAN			10	1894	+			518			Plastocyanin-like 4.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.1715G>C		.	.	.	.	.	.	.	.	.	.	G	13.97	2.395122	0.42512	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000343002	D;D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05;-5.05	5.1	1.71	0.24356	Cupredoxin (2);Multicopper oxidase, type 3 (1);	1.224670	0.05544	N	0.566269	D	0.98388	0.9464	M	0.75150	2.29	0.09310	N	0.999998	P;P	0.50943	0.939;0.94	P;P	0.55011	0.766;0.763	D	0.92059	0.5655	10	0.39692	T	0.17	.	4.5235	0.11971	0.3606:0.1557:0.4837:0.0	.	572;518	E9PHN8;Q9BQS7	.;HEPH_HUMAN	P	572;521;251;521;518	ENSP00000430620:R572P;ENSP00000363859:R521P;ENSP00000337418:R251P;ENSP00000411687:R521P;ENSP00000343939:R518P	ENSP00000337418:R251P	R	+	2	0	HEPH	65334301	0.000000	0.05858	0.141000	0.22245	0.895000	0.52256	-0.423000	0.07034	-0.010000	0.14271	-0.268000	0.10319	CGC		0.473	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		9	30	0	0	0	1	0	9	30				
WNK2	65268	broad.mit.edu	37	9	96051804	96051804	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:96051804G>A	ENST00000297954.4	+	20	4879	c.4879G>A	c.(4879-4881)Ggg>Agg	p.G1627R	WNK2_ENST00000427277.2_Missense_Mutation_p.G1202R|WNK2_ENST00000395477.2_Missense_Mutation_p.G1590R|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.G1239R|WNK2_ENST00000395475.2_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1627					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCCCCTGAGAGGGGACCAGCC	0.697																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(4879-4881)Ggg>Agg		WNK lysine deficient protein kinase 2							13.0	16.0	15.0					9																	96051804		2195	4294	6489	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96051804G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.4879G>A	9.37:g.96051804G>A	ENSP00000297954:p.Gly1627Arg					WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.G1590R|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.G1202R|WNK2_ENST00000349097.3_Missense_Mutation_p.G1239R	p.G1627R			Q9Y3S1	WNK2_HUMAN			20	4879	+			1627					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.4879G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.30|15.30	2.794127|2.794127	0.50102|0.50102	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000411624	T;T;T;T|T	0.26518|0.26067	1.73;1.73;1.73;1.73|1.76	4.13|4.13	4.13|4.13	0.48395|0.48395	.|.	0.834661|.	0.10302|.	N|.	0.690998|.	T|T	0.29423|0.29423	0.0733|0.0733	L|L	0.47716|0.47716	1.5|1.5	0.32339|0.32339	N|N	0.560049|0.560049	D;D;D;D;D|.	0.89917|.	0.999;1.0;0.965;1.0;1.0|.	D;D;P;D;D|.	0.91635|.	0.966;0.985;0.656;0.999;0.963|.	T|T	0.25950|0.25950	-1.0117|-1.0117	10|7	0.30078|0.23302	T|T	0.28|0.38	.|.	11.4841|11.4841	0.50344|0.50344	0.0:0.1817:0.8183:0.0|0.0:0.1817:0.8183:0.0	.|.	1590;1585;1193;1590;1627|.	Q9Y3S1-2;A6PVR3;A6PVR4;F8W9F9;Q9Y3S1|.	.;.;.;.;WNK2_HUMAN|.	R|K	1627;1590;1239;1202|1193	ENSP00000297954:G1627R;ENSP00000378860:G1590R;ENSP00000297876:G1239R;ENSP00000411181:G1202R|ENSP00000414622:R1193K	ENSP00000297954:G1627R|ENSP00000414622:R1193K	G|R	+|+	1|2	0|0	WNK2|WNK2	95091625|95091625	0.995000|0.995000	0.38212|0.38212	0.628000|0.628000	0.29241|0.29241	0.986000|0.986000	0.74619|0.74619	3.158000|3.158000	0.50723|0.50723	1.843000|1.843000	0.53566|0.53566	0.561000|0.561000	0.74099|0.74099	GGG|AGG		0.697	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		6	24	0	0	0	1	0	6	24				
USP31	57478	broad.mit.edu	37	16	23091305	23091305	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:23091305C>A	ENST00000219689.7	-	13	2137	c.2138G>T	c.(2137-2139)tGc>tTc	p.C713F		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	342	DUSP 3. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		ATGGTGATTGCACACAGCATA	0.587																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(2137-2139)tGc>tTc		ubiquitin specific peptidase 31							112.0	91.0	98.0					16																	23091305		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23091305C>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2138G>T	16.37:g.23091305C>A	ENSP00000219689:p.Cys713Phe						p.C713F	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	13	2137	-			713					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.2138G>T	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489069	0.84962	.	.	ENSG00000103404	ENST00000219689	T	0.02709	4.19	4.91	4.91	0.64330	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	U	0.000000	T	0.17704	0.0425	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00649	-1.1627	10	0.87932	D	0	-12.7319	17.0874	0.86614	0.0:1.0:0.0:0.0	.	713	Q70CQ4	UBP31_HUMAN	F	713	ENSP00000219689:C713F	ENSP00000219689:C713F	C	-	2	0	USP31	22998806	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.259000	0.74868	0.557000	0.71058	TGC		0.587	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		8	42	1	0	0.000442599	1	0.000500168	8	42				
SPTB	6710	broad.mit.edu	37	14	65241981	65241981	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:65241981C>G	ENST00000389721.5	-	22	4736	c.4704G>C	c.(4702-4704)agG>agC	p.R1568S	SPTB_ENST00000556626.1_Missense_Mutation_p.R1568S|SPTB_ENST00000542895.1_Missense_Mutation_p.R1568S|SPTB_ENST00000389720.3_Missense_Mutation_p.R1568S|SPTB_ENST00000389722.3_Missense_Mutation_p.R1568S	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1568					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTCCCGCAGCCTGTCCCAGG	0.677																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(4702-4704)agG>agC		spectrin, beta, erythrocytic							38.0	30.0	33.0					14																	65241981		2203	4298	6501	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65241981C>G		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4704G>C	14.37:g.65241981C>G	ENSP00000374371:p.Arg1568Ser					SPTB_ENST00000542895.1_Missense_Mutation_p.R1568S|SPTB_ENST00000389720.3_Missense_Mutation_p.R1568S|SPTB_ENST00000389721.5_Missense_Mutation_p.R1568S|SPTB_ENST00000556626.1_Missense_Mutation_p.R1568S	p.R1568S	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	22	4757	-		all_lung(585;4.15e-09)	1568					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.4704G>C	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	0.811	-0.752018	0.03041	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	5.13	-1.03	0.10102	.	0.925633	0.09392	N	0.808424	T	0.19327	0.0464	N	0.05259	-0.085	0.09310	N	1	B;B;B	0.17268	0.001;0.004;0.021	B;B;B	0.16722	0.004;0.016;0.016	T	0.24083	-1.0170	10	0.12430	T	0.62	.	2.6738	0.05075	0.1113:0.3832:0.3158:0.1896	.	352;1568;1572	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	S	1572;1568;352;233;1568;1568;1568;1568	ENSP00000374372:R1568S;ENSP00000451324:R233S;ENSP00000451752:R1568S;ENSP00000374371:R1568S;ENSP00000443882:R1568S;ENSP00000374370:R1568S	ENSP00000334218:R352S	R	-	3	2	SPTB	64311734	0.000000	0.05858	0.493000	0.27502	0.164000	0.22412	-4.686000	0.00198	-0.092000	0.12417	0.561000	0.74099	AGG		0.677	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			4	39	0	0	0	1	0	4	39				
ZNF518A	9849	broad.mit.edu	37	10	97917390	97917390	+	RNA	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:97917390C>T	ENST00000534948.1	+	0	2168							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TAGCAGTTTCCCCTAACTATA	0.368																																						ENST00000534948.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24								zinc finger protein 518A							73.0	73.0	73.0					10																	97917390		1866	4098	5964			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97917390C>T	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97917390C>T										Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	0	2168	+		Colorectal(252;0.0815)						A0PJI5|O15044|Q32MP4	RNA	SNP	ENST00000534948.1	37																																																																																						0.368	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		7	58	0	0	0	1	0	7	58				
VWA8	23078	broad.mit.edu	37	13	42486208	42486208	+	Missense_Mutation	SNP	C	C	A	rs376871431		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:42486208C>A	ENST00000379310.3	-	3	406	c.338G>T	c.(337-339)gGg>gTg	p.G113V	VWA8_ENST00000281496.6_Missense_Mutation_p.G113V	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	113						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TCGAAGAGGCCCAGGAGGTCC	0.388																																						ENST00000379310.3																			0											c.(337-339)gGg>gTg		von Willebrand factor A domain containing 8							109.0	113.0	111.0					13																	42486208		2203	4300	6503	SO:0001583	missense	23078							g.chr13:42486208C>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.338G>T	13.37:g.42486208C>A	ENSP00000368612:p.Gly113Val					VWA8_ENST00000281496.6_Missense_Mutation_p.G113V	p.G113V	NM_015058.1	NP_055873.1					3	406	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.338G>T	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182208	0.94885	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496;ENST00000398857	D;D	0.96885	-4.16;-4.16	5.97	5.97	0.96955	ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	D	0.98902	0.9628	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99094	1.0841	10	0.87932	D	0	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	113	A3KMH1	K0564_HUMAN	V	17;113;113;113	ENSP00000368612:G113V;ENSP00000281496:G113V	ENSP00000251030:G17V	G	-	2	0	KIAA0564	41384208	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.745000	0.85046	2.833000	0.97629	0.585000	0.79938	GGG		0.388	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		8	76	1	0	0.000274275	1	0.000311256	8	76				
SORBS1	10580	broad.mit.edu	37	10	97096645	97096645	+	Missense_Mutation	SNP	C	C	T	rs117449139	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:97096645C>T	ENST00000361941.3	-	28	3298	c.3272G>A	c.(3271-3273)aGc>aAc	p.S1091N	SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.S1045N|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.S1091N|SORBS1_ENST00000371246.2_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTGCAAGAAGCTATCTTGGTG	0.557													C|||	3	0.000599042	0.0	0.0014	5008	,	,		19600	0.0		0.002	False		,,,				2504	0.0					ENST00000371247.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3271-3273)aGc>aAc		sorbin and SH3 domain containing 1		C	ASN/SER,,,,,,	3,4403	9.9+/-24.2	0,3,2200	96.0	93.0	94.0		3272,,,,,,	4.3	1.0	10	dbSNP_132	94	26,8574	17.9+/-57.8	0,26,4274	yes	missense,intron,intron,intron,intron,intron,intron	SORBS1	NM_001034954.1,NM_001034955.1,NM_001034956.1,NM_001034957.1,NM_006434.2,NM_015385.2,NM_024991.1	46,,,,,,	0,29,6474	TT,TC,CC		0.3023,0.0681,0.223	benign,,,,,,	1091/1293,,,,,,	97096645	29,12977	2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97096645C>T	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.3272G>A	10.37:g.97096645C>T	ENSP00000355136:p.Ser1091Asn					SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.S1045N|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.S1091N|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000353505.5_Intron	p.S1091N			Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	30	3461	-		Colorectal(252;0.0429)	1091						Missense_Mutation	SNP	ENST00000361941.3	37	c.3272G>A	CCDS31255.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	9.814	1.184018	0.21870	6.81E-4	0.003023	ENSG00000095637	ENST00000371247;ENST00000371227;ENST00000361941	T;T;T	0.09630	3.1;2.96;3.1	5.25	4.29	0.51040	.	0.268679	0.27056	N	0.021152	T	0.05502	0.0145	N	0.14661	0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.38714	-0.9648	10	0.16420	T	0.52	-2.265	7.4272	0.27107	0.0:0.6488:0.2299:0.1213	.	1045;1091	Q9BX66-11;Q9BX66	.;SRBS1_HUMAN	N	1091;1045;1091	ENSP00000360293:S1091N;ENSP00000360271:S1045N;ENSP00000355136:S1091N	ENSP00000355136:S1091N	S	-	2	0	SORBS1	97086635	0.998000	0.40836	0.999000	0.59377	0.253000	0.25986	1.820000	0.39032	2.641000	0.89580	0.561000	0.74099	AGC		0.557	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			6	55	0	0	0	1	0	6	55				
PTPRS	5802	broad.mit.edu	37	19	5211644	5211644	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:5211644C>G	ENST00000587303.1	-	32	5290	c.5191G>C	c.(5191-5193)Gag>Cag	p.E1731Q	PTPRS_ENST00000592099.1_Missense_Mutation_p.E1284Q|PTPRS_ENST00000353284.2_Missense_Mutation_p.E1284Q|PTPRS_ENST00000357368.4_Missense_Mutation_p.E1731Q|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.E1711Q|PTPRS_ENST00000372412.4_Missense_Mutation_p.E1732Q|PTPRS_ENST00000348075.2_Missense_Mutation_p.E1693Q|PTPRS_ENST00000588012.1_Missense_Mutation_p.E1693Q			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1731	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TCAGAGCCCTCCACACCCCGG	0.552																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(5194-5196)Gag>Cag		protein tyrosine phosphatase, receptor type, S							120.0	99.0	106.0					19																	5211644		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5211644C>G	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5191G>C	19.37:g.5211644C>G	ENSP00000467537:p.Glu1731Gln					PTPRS_ENST00000262963.6_Missense_Mutation_p.E1711Q|PTPRS_ENST00000353284.2_Missense_Mutation_p.E1284Q|PTPRS_ENST00000348075.2_Missense_Mutation_p.E1693Q|PTPRS_ENST00000587303.1_Missense_Mutation_p.E1731Q|PTPRS_ENST00000588012.1_Missense_Mutation_p.E1693Q|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.E1284Q|PTPRS_ENST00000357368.4_Missense_Mutation_p.E1731Q	p.E1732Q			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	33	5427	-			1731			Tyrosine-protein phosphatase 2.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.5194G>C	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	c	17.12	3.308742	0.60305	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45	2.56	2.56	0.30785	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.185507	0.33572	U	0.004777	T	0.37073	0.0990	M	0.65320	2	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.998;1.0;0.998;0.999;0.999	D;D;D;D;D;D	0.83275	0.957;0.91;0.98;0.969;0.996;0.996	T	0.35599	-0.9782	10	0.87932	D	0	.	13.521	0.61568	0.0:1.0:0.0:0.0	.	1313;1284;1288;1693;1731;1326	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	Q	1326;1732;1731;1731;1722;1711;1693;1313;1288;1284	ENSP00000361489:E1732Q;ENSP00000349932:E1731Q;ENSP00000262963:E1711Q;ENSP00000269907:E1693Q;ENSP00000327313:E1284Q	ENSP00000262963:E1711Q	E	-	1	0	PTPRS	5162644	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	5.757000	0.68766	1.458000	0.47871	0.472000	0.43445	GAG		0.552	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			6	39	0	0	0	1	0	6	39				
CD163	9332	broad.mit.edu	37	12	7640477	7640477	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:7640477C>T	ENST00000359156.4	-	7	1829	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	CD163_ENST00000541972.1_Missense_Mutation_p.E531K|CD163_ENST00000432237.2_Missense_Mutation_p.E543K|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000396620.3_Missense_Mutation_p.E543K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	543	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TGGAATTCTTCAGCCCAGATC	0.537																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(1627-1629)Gaa>Aaa		CD163 molecule							102.0	90.0	94.0					12																	7640477		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7640477C>T	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1627G>A	12.37:g.7640477C>T	ENSP00000352071:p.Glu543Lys					CD163_ENST00000396620.3_Missense_Mutation_p.E543K|CD163_ENST00000541972.1_Missense_Mutation_p.E531K|CD163_ENST00000432237.2_Missense_Mutation_p.E543K	p.E543K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			7	1829	-			543			SRCR 5.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.1627G>A	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621582	0.87460	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.33	4.42	0.53409	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.460667	0.22616	N	0.057764	T	0.48040	0.1478	L	0.58810	1.83	0.42729	D	0.993708	P;P;P	0.52692	0.955;0.782;0.906	P;B;P	0.55577	0.779;0.255;0.714	T	0.42241	-0.9463	10	0.48119	T	0.1	.	12.6578	0.56797	0.0:0.9138:0.0:0.0862	.	543;543;543	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	K	543;531;543;543	ENSP00000352071:E543K;ENSP00000444071:E531K;ENSP00000379863:E543K;ENSP00000403885:E543K	ENSP00000352071:E543K	E	-	1	0	CD163	7531744	0.903000	0.30736	1.000000	0.80357	0.986000	0.74619	3.079000	0.50104	2.663000	0.90544	0.655000	0.94253	GAA		0.537	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		13	76	0	0	0	1	0	13	76				
AIRE	326	broad.mit.edu	37	21	45710865	45710865	+	Intron	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:45710865G>T	ENST00000291582.5	+	8	1006				AIRE_ENST00000329347.4_Missense_Mutation_p.G59V|AIRE_ENST00000355347.4_Missense_Mutation_p.G59V	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator						humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CAGAGACTGGGGAGTTCAGGT	0.627									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																													ENST00000355347.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14						c.(175-177)gGg>gTg		autoimmune regulator							103.0	118.0	113.0					21																	45710865		2203	4300	6503	SO:0001627	intron_variant	326	Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy	Familial Cancer Database	APECED	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	g.chr21:45710865G>T	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"""Zinc fingers, PHD-type"""	360	protein-coding gene	gene with protein product	"""autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"""	607358	"""autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"""	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.880-113G>T	21.37:g.45710865G>T						AIRE_ENST00000329347.4_Missense_Mutation_p.G59V|AIRE_ENST00000291582.5_Intron	p.G59V			O43918	AIRE_HUMAN		Colorectal(79;0.0806)	1	176	+			257			HSR.		B2RP50|O43922|O43932|O75745	Missense_Mutation	SNP	ENST00000291582.5	37	c.176G>T	CCDS13706.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113085	0.37339	.	.	ENSG00000160224	ENST00000337909;ENST00000397994;ENST00000355347;ENST00000329347	D;D	0.97066	-4.23;-4.16	2.65	1.72	0.24424	.	.	.	.	.	D	0.89448	0.6718	N	0.08118	0	0.09310	N	1	P	0.50943	0.94	B	0.37833	0.259	D	0.83522	0.0086	9	0.31617	T	0.26	.	7.8493	0.29444	0.0:0.2591:0.7409:0.0	.	59	B2RP50	.	V	59	ENSP00000347505:G59V;ENSP00000331055:G59V	ENSP00000331055:G59V	G	+	2	0	AIRE	44535293	0.022000	0.18835	0.001000	0.08648	0.009000	0.06853	0.716000	0.25836	0.393000	0.25203	0.462000	0.41574	GGG		0.627	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2			15	109	1	0	2.32078e-09	1	3.23309e-09	15	109				
CLYBL	171425	broad.mit.edu	37	13	100543602	100543602	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:100543602G>A	ENST00000376360.1	+	8	985	c.958G>A	c.(958-960)Gac>Aac	p.D320N	CLYBL_ENST00000339105.4_Missense_Mutation_p.D320N|CLYBL_ENST00000376354.1_Missense_Mutation_p.D286N|CLYBL_ENST00000376355.3_Missense_Mutation_p.D286N			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	320						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAGTATGATCGACATGCCATT	0.438																																						ENST00000376355.3																			0				NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25						c.(856-858)Gac>Aac		citrate lyase beta like							124.0	115.0	118.0					13																	100543602		2203	4300	6503	SO:0001583	missense	171425				cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	g.chr13:100543602G>A	AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.958G>A	13.37:g.100543602G>A	ENSP00000365538:p.Asp320Asn					CLYBL_ENST00000339105.4_Missense_Mutation_p.D320N|CLYBL_ENST00000376360.1_Missense_Mutation_p.D320N|CLYBL_ENST00000376354.1_Missense_Mutation_p.D286N	p.D286N	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN			7	887	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		320					Q5W0F7|Q8TDH8	Missense_Mutation	SNP	ENST00000376360.1	37	c.856G>A	CCDS32002.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624855	0.87560	.	.	ENSG00000125246	ENST00000376355;ENST00000376360;ENST00000376354;ENST00000339105;ENST00000419700;ENST00000425186	T;T;T;T;T	0.65916	0.4;0.21;0.4;0.21;-0.18	5.03	5.03	0.67393	.	0.090480	0.85682	D	0.000000	D	0.86674	0.5989	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91211	0.4999	10	0.72032	D	0.01	-12.4156	18.7527	0.91821	0.0:0.0:1.0:0.0	.	320	Q8N0X4	CLYBL_HUMAN	N	286;320;286;320;83;69	ENSP00000365533:D286N;ENSP00000365538:D320N;ENSP00000365532:D286N;ENSP00000342991:D320N;ENSP00000396574:D83N	ENSP00000342991:D320N	D	+	1	0	CLYBL	99341603	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.248000	0.95456	2.490000	0.84030	0.655000	0.94253	GAC		0.438	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1			7	56	0	0	0	1	0	7	56				
TTN	7273	broad.mit.edu	37	2	179449632	179449632	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:179449632A>T	ENST00000591111.1	-	260	60037	c.59813T>A	c.(59812-59814)cTg>cAg	p.L19938Q	TTN_ENST00000342992.6_Missense_Mutation_p.L19011Q|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L12639Q|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L12706Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L12514Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L21579Q|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19938	Fibronectin type-III 44. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGCCATGACAGGGAGCAAGC	0.507																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(64735-64737)cTg>cAg		titin							72.0	74.0	73.0					2																	179449632		1965	4159	6124	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179449632A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.59813T>A	2.37:g.179449632A>T	ENSP00000465570:p.Leu19938Gln					TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L19011Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L12514Q|TTN_ENST00000591111.1_Missense_Mutation_p.L19938Q|TTN_ENST00000342175.6_Missense_Mutation_p.L12706Q|TTN_ENST00000359218.5_Missense_Mutation_p.L12639Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	p.L21579Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		310	64960	-			19938			Fibronectin type-III 56.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.64736T>A		.	.	.	.	.	.	.	.	.	.	A	17.68	3.450580	0.63290	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89914	0.6853	H	0.99156	4.45	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77004	0.981;0.981;0.981;0.989	D	0.93995	0.7270	9	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	12514;12639;12706;19938	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	19011;12514;12706;12639;12512	ENSP00000343764:L19011Q;ENSP00000434586:L12514Q;ENSP00000340554:L12706Q;ENSP00000352154:L12639Q	ENSP00000340554:L12706Q	L	-	2	0	TTN	179157878	1.000000	0.71417	0.999000	0.59377	0.726000	0.41606	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	CTG		0.507	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	119	0	0	0	1	0	9	119				
LAMA2	3908	broad.mit.edu	37	6	129588365	129588365	+	Splice_Site	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:129588365G>A	ENST00000421865.2	+	16	2371		c.e16+1			NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGAATGCCTGGTAAGTGCTCT	0.498																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.e16+1		laminin, alpha 2							250.0	208.0	222.0					6																	129588365		2203	4300	6503	SO:0001630	splice_region_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129588365G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2322+1G>A	6.37:g.129588365G>A								NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	16	2371	+								Q14736|Q5VUM2|Q93022	Splice_Site	SNP	ENST00000421865.2	37		CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005899	0.93287	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9525	0.97208	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMA2	129630058	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.939000	0.92951	2.719000	0.93026	0.655000	0.94253	.		0.498	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		Intron	11	96	0	0	0	1	0	11	96				
ENPP1	5167	broad.mit.edu	37	6	132203611	132203611	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:132203611C>A	ENST00000360971.2	+	21	2247	c.2227C>A	c.(2227-2229)Cca>Aca	p.P743T		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	743	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CCTCTCCCCACCACGTAAGTT	0.353																																					Colon(104;336 1535 5856 11019 33782)	ENST00000360971.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2227-2229)Cca>Aca		ectonucleotide pyrophosphatase/phosphodiesterase 1	Amifostine(DB01143)|Ribavirin(DB00811)						108.0	113.0	111.0					6																	132203611		2203	4300	6503	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132203611C>A	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2227C>A	6.37:g.132203611C>A	ENSP00000354238:p.Pro743Thr						p.P743T	NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	21	2247	+	Breast(56;0.0505)		743			Nuclease.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.2227C>A	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396925	0.83120	.	.	ENSG00000197594	ENST00000360971	T	0.65732	-0.17	6.16	6.16	0.99307	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.000000	0.85682	D	0.000000	T	0.79118	0.4392	M	0.83774	2.66	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.80013	-0.1560	10	0.72032	D	0.01	-13.3337	18.6329	0.91366	0.0:1.0:0.0:0.0	.	743	P22413	ENPP1_HUMAN	T	743	ENSP00000354238:P743T	ENSP00000354238:P743T	P	+	1	0	ENPP1	132245304	1.000000	0.71417	0.997000	0.53966	0.895000	0.52256	5.046000	0.64226	2.937000	0.99478	0.650000	0.86243	CCA		0.353	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			13	87	1	0	7.93312e-07	1	1.00312e-06	13	87				
DNAH2	146754	broad.mit.edu	37	17	7702037	7702037	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:7702037G>T	ENST00000572933.1	+	55	10019		c.e55+1		DNAH2_ENST00000389173.2_Splice_Site			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATTTGAAGAGGTAGGATTCCT	0.537																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.e55+1		dynein, axonemal, heavy chain 2							103.0	100.0	101.0					17																	7702037		2203	4300	6503	SO:0001630	splice_region_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7702037G>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8559+1G>T	17.37:g.7702037G>T						DNAH2_ENST00000389173.2_Splice_Site				Q9P225	DYH2_HUMAN			55	10019	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)						A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Splice_Site	SNP	ENST00000572933.1	37		CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282967	0.80692	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5126	0.90923	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH2	7642762	1.000000	0.71417	0.999000	0.59377	0.905000	0.53344	7.039000	0.76544	2.682000	0.91365	0.555000	0.69702	.		0.537	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	Intron	8	71	1	0	0.000274275	1	0.000311256	8	71				
CEACAM5	1048	broad.mit.edu	37	19	42224010	42224010	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:42224010G>A	ENST00000221992.6	+	7	1768	c.1654G>A	c.(1654-1656)Ggc>Agc	p.G552S	CEACAM5_ENST00000405816.1_Missense_Mutation_p.G552S|CEACAM5_ENST00000398599.4_Missense_Mutation_p.G551S|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	552	Ig-like 6.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GCTGTCCAATGGCAACAGGAC	0.522																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1654-1656)Ggc>Agc		carcinoembryonic antigen-related cell adhesion molecule 5							187.0	166.0	173.0					19																	42224010		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42224010G>A	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1654G>A	19.37:g.42224010G>A	ENSP00000221992:p.Gly552Ser					CEACAM5_ENST00000405816.1_Missense_Mutation_p.G552S|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.G551S	p.G552S	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	7	1768	+			552			Ig-like 6.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.1654G>A	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.80|12.80	2.047926|2.047926	0.36085|0.36085	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181|ENST00000398599	T;T|.	0.02974|.	4.09;4.09|.	2.2|2.2	1.12|1.12	0.20585|0.20585	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|.	0.36082|.	0.0954|.	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	P;B|.	0.40332|.	0.713;0.186|.	P;B|.	0.55871|.	0.786;0.123|.	T|.	0.27157|.	-1.0082|.	9|.	0.22109|.	T|.	0.4|.	.|.	4.7673|4.7673	0.13139|0.13139	0.1901:0.0:0.8099:0.0|0.1901:0.0:0.8099:0.0	.|.	552;552|.	P06731;Q53G30|.	CEAM5_HUMAN;.|.	S|X	552;552;270|547	ENSP00000221992:G552S;ENSP00000385072:G552S|.	ENSP00000221992:G552S|.	G|W	+|+	1|2	0|0	CEACAM5|CEACAM5	46915850|46915850	0.000000|0.000000	0.05858|0.05858	0.061000|0.061000	0.19648|0.19648	0.071000|0.071000	0.16799|0.16799	0.412000|0.412000	0.21131|0.21131	0.454000|0.454000	0.26884|0.26884	0.404000|0.404000	0.27445|0.27445	GGC|TGG		0.522	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		15	154	0	0	0	1	0	15	154				
TTN	7273	broad.mit.edu	37	2	179579989	179579989	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:179579989G>T	ENST00000591111.1	-	88	25197	c.24973C>A	c.(24973-24975)Cca>Aca	p.P8325T	TTN_ENST00000342992.6_Missense_Mutation_p.P7398T|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P8642T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12502					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAATGGGTGGTTCTAAAATT	0.393																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(25924-25926)Cca>Aca		titin							88.0	79.0	82.0					2																	179579989		1837	4096	5933	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179579989G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24973C>A	2.37:g.179579989G>T	ENSP00000465570:p.Pro8325Thr					TTN_ENST00000342992.6_Missense_Mutation_p.P7398T|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P8325T|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	p.P8642T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		90	26148	-			8325			Ig-like 69.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.25924C>A		.	.	.	.	.	.	.	.	.	.	G	12.19	1.862383	0.32884	.	.	ENSG00000155657	ENST00000342992	T	0.47528	0.84	5.63	5.63	0.86233	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52613	0.1745	M	0.70595	2.14	0.80722	D	1	P	0.52692	0.955	B	0.43783	0.431	T	0.60855	-0.7180	9	0.87932	D	0	.	15.9768	0.80071	0.0:0.1347:0.8653:0.0	.	8325	Q8WZ42	TITIN_HUMAN	T	7398	ENSP00000343764:P7398T	ENSP00000343764:P7398T	P	-	1	0	TTN	179288234	.	.	1.000000	0.80357	0.608000	0.37181	.	.	2.654000	0.90174	0.655000	0.94253	CCA		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	62	1	0	7.48243e-07	1	9.52095e-07	10	62				
SPATA31E1	286234	broad.mit.edu	37	9	90502295	90502295	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:90502295A>T	ENST00000325643.5	+	4	2959	c.2893A>T	c.(2893-2895)Agc>Tgc	p.S965C		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	965					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCCAACATGCAGCCTTGTGGG	0.602																																						ENST00000325643.5																			0											c.(2893-2895)Agc>Tgc		SPATA31 subfamily E, member 1							41.0	42.0	41.0					9																	90502295		2203	4300	6503	SO:0001583	missense	286234							g.chr9:90502295A>T	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2893A>T	9.37:g.90502295A>T	ENSP00000322640:p.Ser965Cys						p.S965C	NM_178828.4	NP_849150.3					4	2959	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.2893A>T	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	a	12.52	1.962998	0.34659	.	.	ENSG00000177992	ENST00000325643	T	0.03951	3.75	2.16	-0.339	0.12647	.	1.845320	0.02783	N	0.121175	T	0.10766	0.0263	L	0.42686	1.345	0.09310	N	1	D	0.71674	0.998	D	0.63113	0.911	T	0.18650	-1.0330	10	0.33141	T	0.24	.	1.7067	0.02883	0.5325:0.0:0.1794:0.2881	.	965	Q6ZUB1	CI079_HUMAN	C	965	ENSP00000322640:S965C	ENSP00000322640:S965C	S	+	1	0	C9orf79	89692115	0.005000	0.15991	0.000000	0.03702	0.002000	0.02628	0.857000	0.27831	-0.084000	0.12595	-0.503000	0.04515	AGC		0.602	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		6	62	0	0	0	1	0	6	62				
CLCN1	1180	broad.mit.edu	37	7	143013433	143013433	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:143013433A>T	ENST00000343257.2	+	1	215	c.128A>T	c.(127-129)cAg>cTg	p.Q43L		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	43					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GGGGGCCTCCAGCACAGGCTC	0.607																																						ENST00000343257.2																			0				breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(127-129)cAg>cTg		chloride channel, voltage-sensitive 1							84.0	76.0	79.0					7																	143013433		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143013433A>T	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.128A>T	7.37:g.143013433A>T	ENSP00000339867:p.Gln43Leu						p.Q43L	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN			1	215	+	Melanoma(164;0.205)		43					A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.128A>T	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	.	16.43	3.122062	0.56613	.	.	ENSG00000188037	ENST00000343257	D	0.85339	-1.97	5.19	5.19	0.71726	.	0.409560	0.21792	N	0.069051	T	0.81697	0.4877	L	0.54323	1.7	0.32161	N	0.582961	B	0.27823	0.19	B	0.26864	0.074	T	0.82497	-0.0428	10	0.35671	T	0.21	.	13.359	0.60644	1.0:0.0:0.0:0.0	.	43	P35523	CLCN1_HUMAN	L	43	ENSP00000339867:Q43L	ENSP00000339867:Q43L	Q	+	2	0	CLCN1	142723555	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	5.191000	0.65110	1.966000	0.57179	0.529000	0.55759	CAG		0.607	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		19	89	0	0	0	1	0	19	89				
PLRG1	5356	broad.mit.edu	37	4	155458554	155458554	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:155458554C>A	ENST00000499023.2	-	14	1495	c.1369G>T	c.(1369-1371)Ggg>Tgg	p.G457W	PLRG1_ENST00000302078.5_Missense_Mutation_p.G448W|PLRG1_ENST00000393905.2_Missense_Mutation_p.G457W	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	457					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TCCAAAGACCCAGGTTGCACA	0.413																																						ENST00000499023.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22						c.(1369-1371)Ggg>Tgg		pleiotropic regulator 1							115.0	110.0	112.0					4																	155458554		2203	4300	6503	SO:0001583	missense	5356					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	g.chr4:155458554C>A	AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.1369G>T	4.37:g.155458554C>A	ENSP00000424417:p.Gly457Trp					PLRG1_ENST00000302078.5_Missense_Mutation_p.G448W|PLRG1_ENST00000393905.2_Missense_Mutation_p.G457W	p.G457W	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN			14	1495	-	all_hematologic(180;0.215)	Renal(120;0.0854)	457					B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	ENST00000499023.2	37	c.1369G>T	CCDS34083.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829149	0.90955	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078	T;T;T	0.66460	-0.21;-0.21;-0.2	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90366	0.6985	H	0.99169	4.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94181	0.7432	10	0.87932	D	0	-17.4888	19.5896	0.95503	0.0:1.0:0.0:0.0	.	448;457	O43660-2;O43660	.;PLRG1_HUMAN	W	457;457;448	ENSP00000424417:G457W;ENSP00000377483:G457W;ENSP00000303191:G448W	ENSP00000303191:G448W	G	-	1	0	PLRG1	155678004	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	7.818000	0.86416	2.632000	0.89209	0.585000	0.79938	GGG		0.413	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669		12	42	1	0	0.00010058	1	0.000116264	12	42				
CANX	821	broad.mit.edu	37	5	179143263	179143263	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:179143263C>G	ENST00000247461.4	+	8	1079	c.879C>G	c.(877-879)atC>atG	p.I293M	CANX_ENST00000512607.2_Missense_Mutation_p.I185M|CANX_ENST00000504734.1_Missense_Mutation_p.I293M|CANX_ENST00000415618.2_Missense_Mutation_p.I328M|CANX_ENST00000452673.2_Missense_Mutation_p.I293M	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	293	4 X approximate repeats.|P domain (Extended arm). {ECO:0000250}.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	GACCAAAAATCCCAGATCCAG	0.468																																						ENST00000247461.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22						c.(877-879)atC>atG		calnexin	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						71.0	70.0	70.0					5																	179143263		2203	4300	6503	SO:0001583	missense	821				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding	g.chr5:179143263C>G	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.879C>G	5.37:g.179143263C>G	ENSP00000247461:p.Ile293Met					CANX_ENST00000512607.2_Missense_Mutation_p.I185M|CANX_ENST00000452673.2_Missense_Mutation_p.I293M|CANX_ENST00000504734.1_Missense_Mutation_p.I293M|CANX_ENST00000415618.2_Missense_Mutation_p.I328M	p.I293M	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1079	+	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	293			4 X approximate repeats.|P domain (Extended arm) (By similarity).		B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	ENST00000247461.4	37	c.879C>G	CCDS4447.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446622	0.63178	.	.	ENSG00000127022	ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000502673;ENST00000512607;ENST00000354394;ENST00000376953	T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.13	-4.75	0.03239	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Calreticulin/calnexin, P (1);Calreticulin/calnexin, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.75903	0.3913	M	0.86651	2.83	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.85130	0.988;0.996;0.997	T	0.77590	-0.2531	10	0.66056	D	0.02	-19.8582	11.385	0.49780	0.2436:0.5877:0.0:0.1687	.	328;229;293	B4DGP8;Q6ZP56;P27824	.;.;CALX_HUMAN	M	293;328;293;293;229;185;273;229	ENSP00000424063:I293M;ENSP00000394817:I328M;ENSP00000391646:I293M;ENSP00000247461:I293M;ENSP00000421107:I229M;ENSP00000423588:I185M	ENSP00000247461:I293M	I	+	3	3	CANX	179075869	0.912000	0.30974	0.974000	0.42286	0.878000	0.50629	0.142000	0.16096	-0.696000	0.05098	-1.156000	0.01807	ATC		0.468	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649		12	36	0	0	0	1	0	12	36				
MAP2K3	5606	broad.mit.edu	37	17	21201752	21201752	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:21201752G>A	ENST00000342679.4	+	2	326	c.77G>A	c.(76-78)cGg>cAg	p.R26Q	MAP2K3_ENST00000316920.6_5'UTR|MAP2K3_ENST00000361818.5_5'UTR	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	26			R -> T. {ECO:0000269|PubMed:17344846}.		activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		AAGGATCTACGGATATCCTGC	0.557																																						ENST00000342679.4																			0											c.(76-78)cGg>cAg		mitogen-activated protein kinase kinase 3																																				SO:0001583	missense	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21201752G>A	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.77G>A	17.37:g.21201752G>A	ENSP00000345083:p.Arg26Gln					MAP2K3_ENST00000316920.6_5'UTR|MAP2K3_ENST00000361818.5_5'UTR	p.R26Q	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	2	326	+			26		R -> T.			B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	c.77G>A	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654548	0.29425	.	.	ENSG00000034152	ENST00000342679;ENST00000316920	T	0.72051	-0.62	5.67	3.33	0.38152	.	0.211286	0.32533	N	0.005966	T	0.45236	0.1332	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.36962	-0.9726	10	0.40728	T	0.16	-25.8898	5.5649	0.17165	0.2926:0.0:0.7074:0.0	.	26	P46734	MP2K3_HUMAN	Q	26;30	ENSP00000345083:R26Q	ENSP00000319139:R30Q	R	+	2	0	MAP2K3	21142345	0.009000	0.17119	0.781000	0.31783	0.169000	0.22640	1.570000	0.36439	1.542000	0.49330	0.655000	0.94253	CGG		0.557	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		19	184	0	0	0	1	0	19	184				
KRT71	112802	broad.mit.edu	37	12	52942485	52942485	+	Splice_Site	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:52942485G>A	ENST00000267119.5	-	4	882	c.813C>T	c.(811-813)gcC>gcT	p.A271A		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	271	Coil 1B.|Rod.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		ACAGACTTACGGCTTCAAAGA	0.532																																						ENST00000267119.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22						c.e4+1		keratin 71							152.0	131.0	138.0					12																	52942485		2203	4300	6503	SO:0001630	splice_region_variant	112802						structural molecule activity	g.chr12:52942485G>A	AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.813+1C>T	12.37:g.52942485G>A							p.A271_splice	NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.194)	4	882	-			271			Coil 1B.|Rod.		B3KVC1|Q3SY85|Q96DU2	Splice_Site	SNP	ENST00000267119.5	37	c.813_splice	CCDS8831.1																																																																																				0.532	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	NM_033448	Silent	10	87	0	0	0	1	0	10	87				
GRAMD1A	57655	broad.mit.edu	37	19	35517044	35517044	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:35517044G>C	ENST00000317991.5	+	20	2366	c.2174G>C	c.(2173-2175)tGa>tCa	p.*725S	GRAMD1A_ENST00000411896.2_Nonstop_Mutation_p.*714S|GRAMD1A_ENST00000504615.2_Nonstop_Mutation_p.*487S|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000599564.1_Nonstop_Mutation_p.*808S	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	0						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGCTTTTCCTGAGGACCCCGG	0.637																																						ENST00000599564.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(2422-2424)tGa>tCa		GRAM domain containing 1A							53.0	61.0	59.0					19																	35517044		2007	4161	6168	SO:0001578	stop_lost	57655					integral to membrane		g.chr19:35517044G>C	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.2174G>C	19.37:g.35517044G>C	ENSP00000441032:p.*725Serext*69					GRAMD1A_ENST00000317991.5_Nonstop_Mutation_p.*725S|GRAMD1A_ENST00000504615.2_Nonstop_Mutation_p.*487S|GRAMD1A_ENST00000411896.2_Nonstop_Mutation_p.*714S	p.*808S			Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		20	2494	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		0					A6NKY7|Q8NC77|Q9P1Z5	Nonstop_Mutation	SNP	ENST00000317991.5	37	c.2423G>C	CCDS42546.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652637	0.29336	.	.	ENSG00000089351	ENST00000453966;ENST00000504615;ENST00000317991;ENST00000411896	.	.	.	4.18	4.18	0.49190	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1782	0.54198	0.0:0.0:1.0:0.0	.	.	.	.	S	807;487;725;714	.	.	X	+	2	2	GRAMD1A	40208884	1.000000	0.71417	1.000000	0.80357	0.488000	0.33401	5.039000	0.64185	2.313000	0.78055	0.650000	0.86243	TGA		0.637	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		5	34	0	0	0	1	0	5	34				
PMPCA	23203	broad.mit.edu	37	9	139317557	139317557	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:139317557G>T	ENST00000371717.3	+	13	1428	c.1419G>T	c.(1417-1419)aaG>aaT	p.K473N	PMPCA_ENST00000399219.3_Missense_Mutation_p.K342N	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	473					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GCAACGTGAAGCCGGAAGATG	0.632																																						ENST00000371717.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14						c.(1417-1419)aaG>aaT		peptidase (mitochondrial processing) alpha							48.0	37.0	41.0					9																	139317557		2203	4299	6502	SO:0001583	missense	23203				proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139317557G>T	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.1419G>T	9.37:g.139317557G>T	ENSP00000360782:p.Lys473Asn					PMPCA_ENST00000399219.3_Missense_Mutation_p.K342N	p.K473N	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	13	1428	+		Myeloproliferative disorder(178;0.0821)	473					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	c.1419G>T	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	G	9.234	1.036563	0.19669	.	.	ENSG00000165688	ENST00000371717;ENST00000399219	T;T	0.28454	1.61;1.61	4.84	-0.448	0.12230	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.479677	0.24083	N	0.041708	T	0.13329	0.0323	N	0.14661	0.345	0.33849	D	0.632339	B;B;B	0.30584	0.061;0.286;0.286	B;B;B	0.28991	0.028;0.097;0.097	T	0.15780	-1.0425	10	0.30854	T	0.27	.	5.0406	0.14456	0.3881:0.2674:0.3446:0.0	.	342;473;473	B4DKL3;Q5SXM9;Q10713	.;.;MPPA_HUMAN	N	473;342	ENSP00000360782:K473N;ENSP00000416702:K342N	ENSP00000360782:K473N	K	+	3	2	PMPCA	138437378	1.000000	0.71417	0.002000	0.10522	0.008000	0.06430	0.875000	0.28079	-0.112000	0.11979	-0.304000	0.09214	AAG		0.632	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160		8	12	1	0	3.09899e-07	1	3.99997e-07	8	12				
CASKIN1	57524	broad.mit.edu	37	16	2235157	2235157	+	Silent	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:2235157C>G	ENST00000343516.6	-	12	1286	c.1194G>C	c.(1192-1194)cgG>cgC	p.R398R	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	398	CASK-binding. {ECO:0000250}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CCCCGCTGCCCCGGCCGCCAG	0.706																																						ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(1192-1194)cgG>cgC		CASK interacting protein 1							13.0	21.0	18.0					16																	2235157		2010	4142	6152	SO:0001819	synonymous_variant	57524				signal transduction	cytoplasm		g.chr16:2235157C>G	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.1194G>C	16.37:g.2235157C>G							p.R398R	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			12	1286	-			398			CASK-binding (By similarity).		Q9P2P0	Silent	SNP	ENST00000343516.6	37	c.1194G>C	CCDS42103.1																																																																																				0.706	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		6	19	0	0	0	1	0	6	19				
TCEB3B	51224	broad.mit.edu	37	18	44561303	44561303	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:44561303G>T	ENST00000332567.4	-	1	685	c.333C>A	c.(331-333)ggC>ggA	p.G111G	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	111					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTCTGGGAAGCCCCAGGCCT	0.657																																						ENST00000332567.4																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(331-333)ggC>ggA		transcription elongation factor B polypeptide 3B (elongin A2)							44.0	51.0	49.0					18																	44561303		2199	4299	6498	SO:0001819	synonymous_variant	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44561303G>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.333C>A	18.37:g.44561303G>T						KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	p.G111G	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	685	-			111					Q9P2V9	Silent	SNP	ENST00000332567.4	37	c.333C>A	CCDS11932.1																																																																																				0.657	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		12	80	1	0	1.5842e-08	1	2.14052e-08	12	80				
KSR1	8844	broad.mit.edu	37	17	25904583	25904583	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:25904583G>T	ENST00000319524.6	+	3	438	c.438G>T	c.(436-438)acG>acT	p.T146T	KSR1_ENST00000509603.2_Silent_p.T146T|KSR1_ENST00000398988.3_Silent_p.T9T|KSR1_ENST00000268763.6_Silent_p.T9T			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	146					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TGAAGGAGACGCTGCGGCGCT	0.657																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(25-27)acG>acT		kinase suppressor of ras 1							33.0	44.0	40.0					17																	25904583		2138	4237	6375	SO:0001819	synonymous_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25904583G>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.438G>T	17.37:g.25904583G>T						KSR1_ENST00000509603.2_Silent_p.T146T|KSR1_ENST00000319524.6_Silent_p.T146T|KSR1_ENST00000268763.6_Silent_p.T9T	p.T9T	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	4	472	+	Lung NSC(42;0.00836)		144					F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	37	c.27G>T																																																																																					0.657	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		3	16	1	0	1.024e-07	1	1.34974e-07	3	16				
MAGEB6	158809	broad.mit.edu	37	X	26212255	26212255	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:26212255C>A	ENST00000379034.1	+	2	441	c.292C>A	c.(292-294)Cgt>Agt	p.R98S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	98	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AAGCACCTCCCGTGATGCCTC	0.537																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(292-294)Cgt>Agt		melanoma antigen family B, 6							87.0	79.0	82.0					X																	26212255		2202	4298	6500	SO:0001583	missense	158809							g.chrX:26212255C>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.292C>A	X.37:g.26212255C>A	ENSP00000368320:p.Arg98Ser						p.R98S	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	441	+			98			Ser-rich.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.292C>A	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	C	1.230	-0.624287	0.03636	.	.	ENSG00000176746	ENST00000379034	T	0.01933	4.55	1.71	-0.332	0.12675	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.47548	-0.9109	9	0.49607	T	0.09	.	1.9508	0.03366	0.318:0.4608:0.0:0.2213	.	98	Q8N7X4	MAGB6_HUMAN	S	98	ENSP00000368320:R98S	ENSP00000368320:R98S	R	+	1	0	MAGEB6	26122176	0.004000	0.15560	0.000000	0.03702	0.016000	0.09150	0.311000	0.19380	-0.210000	0.10140	0.459000	0.35465	CGT		0.537	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		11	49	1	0	2.27111e-07	1	2.94552e-07	11	49				
OR4L1	122742	broad.mit.edu	37	14	20529067	20529067	+	Silent	SNP	C	C	A	rs182900000		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:20529067C>A	ENST00000315683.1	+	1	864	c.864C>A	c.(862-864)acC>acA	p.T288T		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTATTTATACCCTGAGAAATA	0.328																																						ENST00000315683.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(862-864)acC>acA		olfactory receptor, family 4, subfamily L, member 1							62.0	67.0	65.0					14																	20529067		2203	4300	6503	SO:0001819	synonymous_variant	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20529067C>A		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.864C>A	14.37:g.20529067C>A							p.T288T	NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	864	+	all_cancers(95;0.00108)		288					Q6IEZ5	Silent	SNP	ENST00000315683.1	37	c.864C>A	CCDS32029.1																																																																																				0.328	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			5	75	1	0	2.0095e-06	1	2.50954e-06	5	75				
SNRPE	6635	broad.mit.edu	37	1	203834232	203834232	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:203834232T>A	ENST00000414487.2	+	4	253	c.208T>A	c.(208-210)Tca>Aca	p.S70T	SNRPE_ENST00000483099.1_3'UTR|SNRPE_ENST00000367208.1_Missense_Mutation_p.S30T	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	70					gene expression (GO:0010467)|hair cycle (GO:0042633)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	RNA binding (GO:0003723)			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TAAAACAAAGTCAAGAAAACA	0.318																																					Ovarian(83;324 1318 17952 32395 39614)	ENST00000414487.2																			0				breast(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(208-210)Tca>Aca		small nuclear ribonucleoprotein polypeptide E							99.0	99.0	99.0					1																	203834232		2202	4297	6499	SO:0001583	missense	6635				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding	g.chr1:203834232T>A	M37716	CCDS30979.1	1q32	2011-10-11			ENSG00000182004	ENSG00000182004			11161	protein-coding gene	gene with protein product		128260				1835977, 2143747	Standard	NM_003094		Approved	Sm-E	uc001hai.3	P62304	OTTHUMG00000035985	ENST00000414487.2:c.208T>A	1.37:g.203834232T>A	ENSP00000400591:p.Ser70Thr					SNRPE_ENST00000483099.1_3'UTR|SNRPE_ENST00000367208.1_Missense_Mutation_p.S30T	p.S70T	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		4	253	+	all_cancers(21;0.103)		70					B2R5B9|P08578|Q15498|Q5BKT2	Missense_Mutation	SNP	ENST00000414487.2	37	c.208T>A	CCDS30979.1	.	.	.	.	.	.	.	.	.	.	T	5.601	0.295654	0.10622	.	.	ENSG00000182004	ENST00000414487;ENST00000367208	T;T	0.42900	0.96;0.96	5.41	5.41	0.78517	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.193386	0.44483	D	0.000445	T	0.24661	0.0598	.	.	.	0.48135	D	0.999591	B	0.02656	0.0	B	0.06405	0.002	T	0.09596	-1.0667	9	0.06236	T	0.91	.	15.1068	0.72326	0.0:0.0:0.0:1.0	.	70	P62304	RUXE_HUMAN	T	70;30	ENSP00000400591:S70T;ENSP00000356176:S30T	ENSP00000356176:S30T	S	+	1	0	SNRPE	202100855	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.942000	0.49018	2.048000	0.60808	0.533000	0.62120	TCA		0.318	SNRPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087703.1	NM_003094		15	86	0	0	0	1	0	15	86				
ZRANB1	54764	broad.mit.edu	37	10	126655286	126655286	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:126655286A>G	ENST00000359653.4	+	2	1309	c.938A>G	c.(937-939)tAt>tGt	p.Y313C		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	313					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GATGTTGGCTATACTCTTGTA	0.428																																						ENST00000359653.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(937-939)tAt>tGt		zinc finger, RAN-binding domain containing 1							275.0	201.0	226.0					10																	126655286		2203	4300	6503	SO:0001583	missense	54764				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr10:126655286A>G	AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.938A>G	10.37:g.126655286A>G	ENSP00000352676:p.Tyr313Cys						p.Y313C	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)	2	1309	+		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)	313					B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	ENST00000359653.4	37	c.938A>G	CCDS7642.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.984293	0.74474	.	.	ENSG00000019995	ENST00000359653	T	0.18960	2.18	5.9	5.9	0.94986	.	0.108921	0.64402	D	0.000005	T	0.23210	0.0561	L	0.34521	1.04	0.58432	D	0.999999	D	0.52996	0.957	P	0.45794	0.493	T	0.01045	-1.1470	10	0.72032	D	0.01	-13.15	16.3322	0.83039	1.0:0.0:0.0:0.0	.	313	Q9UGI0	ZRAN1_HUMAN	C	313	ENSP00000352676:Y313C	ENSP00000352676:Y313C	Y	+	2	0	ZRANB1	126645276	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	6.601000	0.74136	2.251000	0.74343	0.528000	0.53228	TAT		0.428	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		10	81	0	0	0	1	0	10	81				
SLC13A1	6561	broad.mit.edu	37	7	122811906	122811906	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:122811906C>T	ENST00000194130.2	-	3	320	c.281G>A	c.(280-282)tGt>tAt	p.C94Y	SLC13A1_ENST00000539873.1_Missense_Mutation_p.C30Y	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	94					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TGTTGCTAAACAGATAACTCC	0.353																																						ENST00000194130.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45						c.(280-282)tGt>tAt		solute carrier family 13 (sodium/sulfate symporter), member 1	Succinic acid(DB00139)						157.0	143.0	148.0					7																	122811906		2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122811906C>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.281G>A	7.37:g.122811906C>T	ENSP00000194130:p.Cys94Tyr					SLC13A1_ENST00000539873.1_Missense_Mutation_p.C30Y	p.C94Y	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN			3	320	-			94					Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.281G>A	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000286	0.74818	.	.	ENSG00000081800	ENST00000194130;ENST00000539873	T;T	0.02709	4.19;4.19	5.49	5.49	0.81192	.	0.041393	0.85682	D	0.000000	T	0.19167	0.0460	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.00141	-1.1999	10	0.87932	D	0	.	18.7118	0.91659	0.0:1.0:0.0:0.0	.	94	Q9BZW2	S13A1_HUMAN	Y	94;30	ENSP00000194130:C94Y;ENSP00000441309:C30Y	ENSP00000194130:C94Y	C	-	2	0	SLC13A1	122599142	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.943000	0.70211	2.739000	0.93911	0.563000	0.77884	TGT		0.353	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		15	87	0	0	0	1	0	15	87				
DCC	1630	broad.mit.edu	37	18	51052998	51052998	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:51052998C>A	ENST00000442544.2	+	28	4739	c.4123C>A	c.(4123-4125)Cct>Act	p.P1375T	DCC_ENST00000581580.1_Missense_Mutation_p.P1008T|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1375			P -> H (in a colorectal carcinoma). {ECO:0000269|PubMed:8188295}.		anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCCCACTCTTCCTAAGACCCA	0.458																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(4123-4125)Cct>Act		deleted in colorectal carcinoma							106.0	102.0	104.0					18																	51052998		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:51052998C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.4123C>A	18.37:g.51052998C>A	ENSP00000389140:p.Pro1375Thr					RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.P1008T	p.P1375T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	28	4739	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1375		P -> H (in a colorectal carcinoma).				Missense_Mutation	SNP	ENST00000442544.2	37	c.4123C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.462905	0.26248	.	.	ENSG00000187323	ENST00000442544	T	0.41065	1.01	5.53	3.66	0.41972	Neogenin, C-terminal (1);	0.163605	0.38663	N	0.001605	T	0.34135	0.0887	L	0.47716	1.5	0.37446	D	0.914604	B	0.13594	0.008	B	0.13407	0.009	T	0.22173	-1.0224	10	0.22109	T	0.4	-3.1301	12.6033	0.56509	0.1278:0.7479:0.1243:0.0	.	1375	P43146	DCC_HUMAN	T	1375	ENSP00000389140:P1375T	ENSP00000389140:P1375T	P	+	1	0	DCC	49306996	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.786000	0.38694	2.596000	0.87737	0.655000	0.94253	CCT		0.458	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		11	74	1	0	1.05317e-09	1	1.4851e-09	11	74				
RP1L1	94137	broad.mit.edu	37	8	10467442	10467442	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:10467442G>T	ENST00000382483.3	-	4	4389	c.4166C>A	c.(4165-4167)gCt>gAt	p.A1389D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1469	8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K.		Missing (in allele RP1L1-1).|Missing (in allele RP1L1-2).|Missing (in allele RP1L1-3).|Missing (in allele RP1L1-4).		cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCTTCAAGAGCCTCTCCTTG	0.532																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(4165-4167)gCt>gAt		retinitis pigmentosa 1-like 1							313.0	329.0	324.0					8																	10467442		1948	4134	6082	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10467442G>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4166C>A	8.37:g.10467442G>T	ENSP00000371923:p.Ala1389Asp						p.A1389D	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	4389	-			1389					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.4166C>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	5.622	0.299421	0.10622	.	.	ENSG00000183638	ENST00000382483	T	0.05447	3.44	2.28	-2.49	0.06403	.	.	.	.	.	T	0.02193	0.0068	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.46414	-0.9193	9	0.11794	T	0.64	.	1.0329	0.01542	0.1615:0.2196:0.1669:0.452	.	1389	A6NKC6	.	D	1389	ENSP00000371923:A1389D	ENSP00000371923:A1389D	A	-	2	0	RP1L1	10504852	0.002000	0.14202	0.001000	0.08648	0.051000	0.14879	-0.064000	0.11636	-0.860000	0.04099	-0.676000	0.03789	GCT		0.532	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			15	294	1	0	2.5808e-16	1	3.97955e-16	15	294				
TRIM69	140691	broad.mit.edu	37	15	45059955	45059955	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:45059955C>T	ENST00000559390.1	+	8	2416	c.1488C>T	c.(1486-1488)atC>atT	p.I496I	TRIM69_ENST00000561043.1_Silent_p.I259I|TRIM69_ENST00000338264.4_Silent_p.I337I|TRIM69_ENST00000558173.1_Silent_p.I292I|TRIM69_ENST00000558329.1_Silent_p.I275I|TRIM69_ENST00000560442.1_Silent_p.I292I|TRIM69_ENST00000329464.4_Silent_p.I496I			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	496	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CATTGCACATCTTACATCCAC	0.353																																					Pancreas(84;519 1450 1802 20427 34706)	ENST00000558173.1																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20						c.(874-876)atC>atT		tripartite motif containing 69							70.0	68.0	69.0					15																	45059955		2164	4279	6443	SO:0001819	synonymous_variant	140691				apoptosis	nuclear speck	zinc ion binding	g.chr15:45059955C>T	AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.1488C>T	15.37:g.45059955C>T						TRIM69_ENST00000559390.1_Silent_p.I496I|TRIM69_ENST00000329464.4_Silent_p.I496I|TRIM69_ENST00000338264.4_Silent_p.I337I|TRIM69_ENST00000560442.1_Silent_p.I292I|TRIM69_ENST00000561043.1_Silent_p.I259I|TRIM69_ENST00000558329.1_Silent_p.I275I	p.I292I			Q86WT6	TRI69_HUMAN		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)	5	5621	+		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	496					A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Silent	SNP	ENST00000559390.1	37	c.876C>T	CCDS32220.1																																																																																				0.353	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1			11	59	0	0	0	1	0	11	59				
ARHGAP44	9912	broad.mit.edu	37	17	12819313	12819313	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:12819313G>T	ENST00000379672.5	+	5	672	c.372G>T	c.(370-372)ctG>ctT	p.L124L	ARHGAP44_ENST00000262444.9_Silent_p.L124L|ARHGAP44_ENST00000340825.3_Silent_p.L124L|MIR1269B_ENST00000580405.1_RNA	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	124	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TTGAGCCCCTGTTTTTGCTGG	0.517																																						ENST00000379672.5																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						c.(370-372)ctG>ctT		Rho GTPase activating protein 44							80.0	80.0	80.0					17																	12819313		2079	4208	6287	SO:0001819	synonymous_variant	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12819313G>T		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.372G>T	17.37:g.12819313G>T						ARHGAP44_ENST00000262444.9_Silent_p.L124L|ARHGAP44_ENST00000340825.3_Silent_p.L124L	p.L124L	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN			5	672	+			124			BAR.		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Silent	SNP	ENST00000379672.5	37	c.372G>T	CCDS45616.1																																																																																				0.517	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		5	19	1	0	0.014758	1	0.0154462	5	19				
QTRTD1	79691	broad.mit.edu	37	3	113795705	113795705	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:113795705G>T	ENST00000493014.1	+	3	412	c.344G>T	c.(343-345)gGt>gTt	p.G115V	QTRTD1_ENST00000479882.1_Missense_Mutation_p.G98V|QTRTD1_ENST00000281273.4_Missense_Mutation_p.G221V|QTRTD1_ENST00000485050.1_Missense_Mutation_p.G233V	NM_001256836.1	NP_001243765.1			queuine tRNA-ribosyltransferase domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						CTTCTGGATGGTTTTCAAGGA	0.542																																						ENST00000281273.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						c.(661-663)gGt>gTt		queuine tRNA-ribosyltransferase domain containing 1							98.0	85.0	89.0					3																	113795705		2203	4300	6503	SO:0001583	missense	79691				queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr3:113795705G>T	AK023022	CCDS33828.1, CCDS58846.1, CCDS58845.1, CCDS58844.1	3q13.31	2010-11-16			ENSG00000151576	ENSG00000151576			25771	protein-coding gene	gene with protein product						12477932	Standard	NM_024638		Approved	FLJ12960	uc003eaz.4	Q9H974	OTTHUMG00000159336	ENST00000493014.1:c.344G>T	3.37:g.113795705G>T	ENSP00000419169:p.Gly115Val					QTRTD1_ENST00000485050.1_Missense_Mutation_p.G233V|QTRTD1_ENST00000493014.1_Missense_Mutation_p.G115V|QTRTD1_ENST00000479882.1_Missense_Mutation_p.G98V	p.G221V	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN			7	919	+			221						Missense_Mutation	SNP	ENST00000493014.1	37	c.662G>T	CCDS58845.1	.	.	.	.	.	.	.	.	.	.	G	32	5.147368	0.94603	.	.	ENSG00000151576	ENST00000485050;ENST00000281273;ENST00000479882;ENST00000493014	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.86948	0.6056	M	0.92459	3.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.991	D	0.89393	0.3690	9	0.87932	D	0	-10.3001	19.8525	0.96745	0.0:0.0:1.0:0.0	.	115;98;221	B7Z472;B7Z5R2;Q9H974	.;.;QTRD1_HUMAN	V	233;221;98;115	.	ENSP00000281273:G221V	G	+	2	0	QTRTD1	115278395	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.539000	0.82063	2.681000	0.91329	0.655000	0.94253	GGT		0.542	QTRTD1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000354711.1	NM_024638		8	91	1	0	0.00307968	1	0.00332671	8	91				
GPR39	2863	broad.mit.edu	37	2	133174975	133174975	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:133174975C>A	ENST00000329321.3	+	1	829	c.360C>A	c.(358-360)taC>taA	p.Y120*		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	120					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGCAGCTACGCTACGCTGC	0.577																																						ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(358-360)taC>taA		G protein-coupled receptor 39							137.0	123.0	128.0					2																	133174975		2203	4300	6503	SO:0001587	stop_gained	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133174975C>A	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.360C>A	2.37:g.133174975C>A	ENSP00000327417:p.Tyr120*						p.Y120*	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN			1	829	+			120					B2RC12|B6V9G4|Q08AS2|Q53R01	Nonsense_Mutation	SNP	ENST00000329321.3	37	c.360C>A	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	C	40	8.231464	0.98717	.	.	ENSG00000183840	ENST00000329321	.	.	.	4.97	-6.65	0.01795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7156	0.85397	0.0:0.2318:0.0:0.7682	.	.	.	.	X	120	.	ENSP00000327417:Y120X	Y	+	3	2	GPR39	132891445	0.000000	0.05858	0.748000	0.31131	0.939000	0.58152	-3.450000	0.00466	-1.424000	0.01999	-0.266000	0.10368	TAC		0.577	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			15	50	1	0	1.49906e-05	1	1.79976e-05	15	50				
PRR4	11272	broad.mit.edu	37	12	10999835	10999835	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:10999835C>A	ENST00000228811.4	-	3	269	c.232G>T	c.(232-234)Ggc>Tgc	p.G78C	PRR4_ENST00000540107.1_Intron|PRR4_ENST00000536668.1_5'UTR|PRR4_ENST00000544994.1_Intron	NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)	78	Pro-rich.				retina homeostasis (GO:0001895)|visual perception (GO:0007601)	extracellular space (GO:0005615)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						CGGTGATGGCCTCCTGGTTTT	0.567																																						ENST00000228811.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						c.(232-234)Ggc>Tgc		proline rich 4 (lacrimal)							233.0	247.0	243.0					12																	10999835		2032	4189	6221	SO:0001583	missense	11272				visual perception	extracellular space		g.chr12:10999835C>A		CCDS41756.1, CCDS55804.1	12p13	2008-02-05		2004-05-28		ENSG00000111215			18020	protein-coding gene	gene with protein product		605359		PROL4		7544782	Standard	NM_007244		Approved	LPRP	uc001qyz.4	Q16378		ENST00000228811.4:c.232G>T	12.37:g.10999835C>A	ENSP00000228811:p.Gly78Cys					PRR4_ENST00000540107.1_Intron|PRR4_ENST00000544994.1_Intron|PRR4_ENST00000536668.1_5'UTR	p.G78C	NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN			3	269	-			78			Pro-rich.		A8KA69|F5H0D7|Q8NFB3	Missense_Mutation	SNP	ENST00000228811.4	37	c.232G>T	CCDS41756.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.934|8.934	0.964264|0.964264	0.18583|0.18583	.|.	.|.	ENSG00000111215|ENSG00000111215	ENST00000431566|ENST00000228811	.|T	.|0.04275	.|3.66	1.59|1.59	0.649|0.649	0.17806|0.17806	.|.	.|0.302441	.|0.15804	.|U	.|0.243837	T|T	0.11537|0.11537	0.0281|0.0281	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.77004	.|0.989	T|T	0.12116|0.12116	-1.0560|-1.0560	6|10	0.87932|0.87932	D|D	0|0	.|.	4.0349|4.0349	0.09725|0.09725	0.0:0.7673:0.0:0.2327|0.0:0.7673:0.0:0.2327	.|.	.|78	.|Q16378	.|PROL4_HUMAN	D|C	61|78	.|ENSP00000228811:G78C	ENSP00000405056:E61D|ENSP00000228811:G78C	E|G	-|-	3|1	2|0	PRR4|PRR4	10891102|10891102	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.306000|0.306000	0.27790|0.27790	0.406000|0.406000	0.21032|0.21032	0.206000|0.206000	0.20587|0.20587	0.411000|0.411000	0.27672|0.27672	GAG|GGC		0.567	PRR4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400049.1	NM_007244		13	246	1	0	4.36969e-10	1	6.20511e-10	13	246				
ITGB3	3690	broad.mit.edu	37	17	45368460	45368460	+	Intron	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:45368460G>T	ENST00000559488.1	+	9	1276				ITGB3_ENST00000435993.2_Intron|ITGB3_ENST00000571680.1_Missense_Mutation_p.R422S|ITGB3_ENST00000560629.1_Intron	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)						activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	ACACGGTGAGGTGGGCTGGGC	0.517																																						ENST00000571680.1																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(1264-1266)agG>agT		integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	Abciximab(DB00054)|Tirofiban(DB00775)						91.0	79.0	83.0					17																	45368460		2203	4300	6503	SO:0001627	intron_variant	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45368460G>T		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1260+6G>T	17.37:g.45368460G>T						ITGB3_ENST00000559488.1_Intron|ITGB3_ENST00000560629.1_Intron|ITGB3_ENST00000435993.2_Intron	p.R422S			P05106	ITB3_HUMAN			9	1275	+			422					A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	c.1266G>T	CCDS11511.1																																																																																				0.517	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		20	85	1	0	4.96729e-08	1	6.56885e-08	20	85				
SLIT2	9353	broad.mit.edu	37	4	20618719	20618719	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:20618719C>A	ENST00000504154.1	+	35	4286	c.4034C>A	c.(4033-4035)aCa>aAa	p.T1345K	SLIT2_ENST00000503823.1_Missense_Mutation_p.T1337K|SLIT2_ENST00000273739.5_Missense_Mutation_p.T1358K|SLIT2_ENST00000503837.1_Missense_Mutation_p.T1341K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1345	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCCCATGGCACATGCCAGCCC	0.577																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(4033-4035)aCa>aAa		slit homolog 2 (Drosophila)							57.0	56.0	56.0					4																	20618719		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20618719C>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4034C>A	4.37:g.20618719C>A	ENSP00000422591:p.Thr1345Lys					SLIT2_ENST00000273739.5_Missense_Mutation_p.T1358K|SLIT2_ENST00000503837.1_Missense_Mutation_p.T1341K|SLIT2_ENST00000503823.1_Missense_Mutation_p.T1337K	p.T1345K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			35	4286	+			1345			EGF-like 7.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.4034C>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	1.884	-0.457072	0.04540	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.81247	-1.45;-1.47;-1.39;-1.43	5.94	1.2	0.21068	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.430371	0.29328	N	0.012472	T	0.73401	0.3582	M	0.74389	2.26	0.09310	N	0.999999	B;B	0.25609	0.13;0.044	B;B	0.29077	0.098;0.045	T	0.56438	-0.7979	10	0.05833	T	0.94	.	7.7891	0.29110	0.0:0.6026:0.2156:0.1818	.	1337;1345	O94813-3;O94813	.;SLIT2_HUMAN	K	1337;1345;1358;1341;1341	ENSP00000427548:T1337K;ENSP00000422591:T1345K;ENSP00000273739:T1358K;ENSP00000422261:T1341K	ENSP00000273739:T1358K	T	+	2	0	SLIT2	20227817	0.000000	0.05858	0.085000	0.20634	0.982000	0.71751	0.234000	0.17930	-0.093000	0.12396	0.650000	0.86243	ACA		0.577	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			7	57	1	0	0.248553	1	0.249789	7	57				
ZFYVE16	9765	broad.mit.edu	37	5	79743855	79743855	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:79743855C>T	ENST00000338008.5	+	7	2915	c.2735C>T	c.(2734-2736)aCa>aTa	p.T912I	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.T912I|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.T912I	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	912					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		ACAGTAAACACAGTGGATCAT	0.318																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2734-2736)aCa>aTa		zinc finger, FYVE domain containing 16							57.0	57.0	57.0					5																	79743855		2202	4300	6502	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79743855C>T	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.2735C>T	5.37:g.79743855C>T	ENSP00000337159:p.Thr912Ile					ZFYVE16_ENST00000505560.1_Missense_Mutation_p.T912I|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.T912I	p.T912I	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	7	2915	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	912					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.2735C>T	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590040	0.46214	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.40225	1.04;1.04;1.04	5.43	4.53	0.55603	.	0.572836	0.16959	N	0.192595	T	0.39886	0.1095	L	0.51422	1.61	0.27496	N	0.952134	B	0.33135	0.399	B	0.35039	0.194	T	0.28235	-1.0050	10	0.36615	T	0.2	-6.9785	13.43	0.61049	0.1625:0.8375:0.0:0.0	.	912	Q7Z3T8	ZFY16_HUMAN	I	912	ENSP00000337159:T912I;ENSP00000423663:T912I;ENSP00000426848:T912I	ENSP00000337159:T912I	T	+	2	0	ZFYVE16	79779611	0.968000	0.33430	0.904000	0.35570	0.969000	0.65631	2.134000	0.42102	1.373000	0.46208	0.650000	0.86243	ACA		0.318	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		5	37	0	0	0	1	0	5	37				
RBP3	5949	broad.mit.edu	37	10	48388265	48388265	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:48388265G>T	ENST00000224600.4	-	1	2726	c.2613C>A	c.(2611-2613)ccC>ccA	p.P871P	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	871	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CTCCGGCCGTGGGCTCCCCAA	0.637																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(2611-2613)ccC>ccA		retinol binding protein 3, interstitial	Vitamin A(DB00162)						21.0	22.0	22.0					10																	48388265		2200	4296	6496	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388265G>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2613C>A	10.37:g.48388265G>T							p.P871P	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	2726	-			871			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.2613C>A	CCDS7218.1																																																																																				0.637	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		14	29	1	0	4.93089e-13	1	7.35085e-13	14	29				
LDB3	11155	broad.mit.edu	37	10	88476291	88476291	+	Missense_Mutation	SNP	G	G	T	rs184240743		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:88476291G>T	ENST00000361373.4	+	9	1460	c.1439G>T	c.(1438-1440)gGc>gTc	p.G480V	LDB3_ENST00000429277.2_Missense_Mutation_p.G485V|LDB3_ENST00000263066.6_Missense_Mutation_p.G370V|LDB3_ENST00000352360.5_Missense_Mutation_p.G223V|LDB3_ENST00000458213.2_Missense_Mutation_p.G370V	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TACAGCGGGGGCCCTGCGGAG	0.642																																						ENST00000429277.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(1453-1455)gGc>gTc		LIM domain binding 3							70.0	77.0	74.0					10																	88476291		2203	4300	6503	SO:0001583	missense	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88476291G>T	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.1439G>T	10.37:g.88476291G>T	ENSP00000355296:p.Gly480Val					LDB3_ENST00000263066.6_Missense_Mutation_p.G370V|LDB3_ENST00000361373.4_Missense_Mutation_p.G480V|LDB3_ENST00000352360.5_Missense_Mutation_p.G223V|LDB3_ENST00000458213.2_Missense_Mutation_p.G370V	p.G485V	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN			10	1599	+			480						Missense_Mutation	SNP	ENST00000361373.4	37	c.1454G>T	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901934	0.33535	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000352360;ENST00000263066;ENST00000361373	T;T;T;T;T	0.53640	0.85;0.71;0.64;0.71;0.61	4.98	4.98	0.66077	.	0.000000	0.33057	N	0.005332	T	0.61961	0.2389	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D	0.89917	0.994;1.0;0.996;0.972;0.992	P;D;P;P;P	0.91635	0.808;0.999;0.876;0.632;0.801	T	0.57154	-0.7860	10	0.29301	T	0.29	.	14.1085	0.65107	0.0:0.0:1.0:0.0	.	485;401;223;480;370	B4E3K3;F5H0C2;O75112-3;O75112;O75112-2	.;.;.;LDB3_HUMAN;.	V	401;485;370;223;370;480	ENSP00000401437:G485V;ENSP00000409148:G370V;ENSP00000263067:G223V;ENSP00000263066:G370V;ENSP00000355296:G480V	ENSP00000263066:G370V	G	+	2	0	LDB3	88466271	.	.	0.513000	0.27749	0.095000	0.18619	.	.	2.458000	0.83093	0.650000	0.86243	GGC		0.642	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			6	72	1	0	3.59834e-05	1	4.23827e-05	6	72				
FCGBP	8857	broad.mit.edu	37	19	40419914	40419914	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:40419914G>A	ENST00000221347.6	-	6	3087	c.3080C>T	c.(3079-3081)gCc>gTc	p.A1027V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1027	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTTCCCAAAGGCCAGTGCATT	0.627																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(3079-3081)gCc>gTc		Fc fragment of IgG binding protein							70.0	60.0	63.0					19																	40419914		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40419914G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.3080C>T	19.37:g.40419914G>A	ENSP00000221347:p.Ala1027Val						p.A1027V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		6	3087	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1027			VWFD 2.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.3080C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104742	0.37145	.	.	ENSG00000090920	ENST00000221347	T	0.20598	2.06	5.18	-3.64	0.04515	von Willebrand factor, type D domain (1);	1.102120	0.07075	U	0.836015	T	0.24236	0.0587	L	0.42686	1.345	0.09310	N	1	D	0.57257	0.979	P	0.55222	0.771	T	0.26883	-1.0090	10	0.24483	T	0.36	.	6.3817	0.21538	0.0684:0.0931:0.261:0.5776	.	1027	Q9Y6R7	FCGBP_HUMAN	V	1027	ENSP00000221347:A1027V	ENSP00000221347:A1027V	A	-	2	0	FCGBP	45111754	0.010000	0.17322	0.006000	0.13384	0.595000	0.36748	0.099000	0.15210	-0.823000	0.04301	0.561000	0.74099	GCC		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		5	64	0	0	0	1	0	5	64				
NRXN1	9378	broad.mit.edu	37	2	50847190	50847190	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:50847190G>T	ENST00000406316.2	-	8	2766	c.1290C>A	c.(1288-1290)gtC>gtA	p.V430V	NRXN1_ENST00000406859.3_Silent_p.V430V|NRXN1_ENST00000402717.3_Silent_p.V422V|NRXN1_ENST00000404971.1_Silent_p.V470V|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Silent_p.V422V|NRXN1_ENST00000401669.2_Silent_p.V430V	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	430	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGTTGTTACTGACTGGTGACC	0.463																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(1408-1410)gtC>gtA		neurexin 1							64.0	64.0	64.0					2																	50847190		1967	4170	6137	SO:0001819	synonymous_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50847190G>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1290C>A	2.37:g.50847190G>T						NRXN1_ENST00000405472.3_Silent_p.V422V|NRXN1_ENST00000401669.2_Silent_p.V430V|NRXN1_ENST00000402717.3_Silent_p.V422V|NRXN1_ENST00000406316.2_Silent_p.V430V|NRXN1_ENST00000406859.3_Silent_p.V430V|NRXN1_ENST00000331040.5_5'UTR	p.V470V	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		9	2749	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	430			Laminin G-like 2.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.1410C>A	CCDS54360.1																																																																																				0.463	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			8	18	1	0	3.09899e-07	1	3.99997e-07	8	18				
SEC16B	89866	broad.mit.edu	37	1	177937011	177937011	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:177937011C>G	ENST00000308284.6	-	2	195	c.106G>C	c.(106-108)Gtc>Ctc	p.V36L	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.V36L	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	36	Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GAGTGAGGGACAGGCCGATGA	0.607																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(106-108)Gtc>Ctc		SEC16 homolog B (S. cerevisiae)							85.0	86.0	85.0					1																	177937011		2038	4208	6246	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177937011C>G	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.106G>C	1.37:g.177937011C>G	ENSP00000308339:p.Val36Leu					SEC16B_ENST00000464631.1_Missense_Mutation_p.V36L|RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.V36L|RP4-798P15.3_ENST00000354921.2_5'UTR	p.V36L	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			2	195	-			36			Required for endoplasmic reticulum localization.		A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.106G>C	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	C	5.205	0.223389	0.09863	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000464631	T;T	0.42513	2.57;0.97	5.58	-1.52	0.08637	.	1.347480	0.04639	N	0.404983	T	0.31638	0.0803	L	0.51422	1.61	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.13361	-1.0512	10	0.25751	T	0.34	0.0098	1.5182	0.02510	0.1256:0.3412:0.1825:0.3506	.	36;36;36	E9PK14;B1AM08;Q96JE7	.;.;SC16B_HUMAN	L	36	ENSP00000308339:V36L;ENSP00000431727:V36L	ENSP00000308339:V36L	V	-	1	0	AL359075.1	176203634	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.353000	0.07691	-0.135000	0.11495	0.557000	0.71058	GTC		0.607	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		8	60	0	0	0	1	0	8	60				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	24	0	0	0	1	0	3	24				
GHRHR	2692	broad.mit.edu	37	7	31013752	31013752	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:31013752G>T	ENST00000326139.2	+	7	796	c.750G>T	c.(748-750)tgG>tgT	p.W250C	GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409904.3_Splice_Site_p.W186C	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	250					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	TCGCTGGCTGGGGTGAGCACT	0.627																																						ENST00000409904.3																			0				biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.e4+1		growth hormone releasing hormone receptor	Sermorelin(DB00010)						47.0	50.0	49.0					7																	31013752		2203	4300	6503	SO:0001630	splice_region_variant	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31013752G>T		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.751+1G>T	7.37:g.31013752G>T						GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000326139.2_Splice_Site_p.W250_splice	p.W186_splice			Q02643	GHRHR_HUMAN			4	816	+			250					Q99863	Splice_Site	SNP	ENST00000326139.2	37	c.559_splice	CCDS5432.1	.	.	.	.	.	.	.	.	.	.	g	19.18	3.776889	0.70107	.	.	ENSG00000106128	ENST00000326139;ENST00000409904	T;T	0.62788	0.0;0.0	4.93	4.93	0.64822	GPCR, family 2-like (1);	.	.	.	.	D	0.83036	0.5167	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86917	0.2064	9	0.87932	D	0	.	15.7254	0.77751	0.0:0.0:1.0:0.0	.	186;250	Q9HB45;Q02643	.;GHRHR_HUMAN	C	250;186	ENSP00000320180:W250C;ENSP00000387113:W186C	ENSP00000320180:W250C	W	+	3	0	GHRHR	30980277	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	8.799000	0.91895	2.556000	0.86216	0.552000	0.68991	TGG		0.627	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2		Missense_Mutation	15	71	1	0	7.93312e-07	1	1.00312e-06	15	71				
TASP1	55617	broad.mit.edu	37	20	13463984	13463984	+	Splice_Site	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr20:13463984C>G	ENST00000337743.4	-	11	995	c.875G>C	c.(874-876)gGa>gCa	p.G292A	TASP1_ENST00000539805.1_Splice_Site_p.D95H|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	292					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						CTCTCCACATCCTAGAAATCC	0.438																																						ENST00000337743.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						c.e11-1		taspase, threonine aspartase, 1							127.0	116.0	120.0					20																	13463984		2203	4300	6503	SO:0001630	splice_region_variant	55617				asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	g.chr20:13463984C>G	AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.875-1G>C	20.37:g.13463984C>G						TASP1_ENST00000539805.1_Splice_Site_p.D95_splice|TASP1_ENST00000480436.1_5'UTR	p.G292_splice	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN			11	995	-			292					B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Splice_Site	SNP	ENST00000337743.4	37	c.874_splice	CCDS13116.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.0|28.0	4.882916|4.882916	0.91740|0.91740	.|.	.|.	ENSG00000089123|ENSG00000089123	ENST00000539805|ENST00000378157;ENST00000337743;ENST00000455532	.|D;D	.|0.97455	.|-4.39;-4.39	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99190|0.99190	0.9719|0.9719	H|H	0.97829|0.97829	4.085|4.085	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.98853|0.98853	1.0759|1.0759	6|10	0.72032|0.87932	D|D	0.01|0	.|.	19.8454|19.8454	0.96706|0.96706	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|292;269	.|Q9H6P5;Q5JWM4	.|TASP1_HUMAN;.	H|A	95|269;292;269	.|ENSP00000338624:G292A;ENSP00000400580:G269A	ENSP00000444062:D95H|ENSP00000338624:G292A	D|G	-|-	1|2	0|0	TASP1|TASP1	13411984|13411984	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.899000|0.899000	0.52679|0.52679	6.966000|6.966000	0.76073|0.76073	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	GAT|GGA		0.438	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714	Missense_Mutation	15	91	0	0	0	1	0	15	91				
TTN	7273	broad.mit.edu	37	2	179659889	179659889	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:179659889C>A	ENST00000591111.1	-	7	1229	c.1005G>T	c.(1003-1005)gtG>gtT	p.V335V	TTN_ENST00000342992.6_Silent_p.V335V|TTN_ENST00000359218.5_Silent_p.V335V|TTN_ENST00000342175.6_Silent_p.V335V|TTN_ENST00000360870.5_Silent_p.V335V|TTN_ENST00000460472.2_Silent_p.V335V|TTN_ENST00000589042.1_Silent_p.V335V			Q8WZ42	TITIN_HUMAN	titin	0	ZIS1.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACCTGTGGCCACGGTGGATG	0.557																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(1003-1005)gtG>gtT		titin							104.0	95.0	98.0					2																	179659889		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179659889C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.1005G>T	2.37:g.179659889C>A						TTN_ENST00000342992.6_Silent_p.V335V|TTN_ENST00000460472.2_Silent_p.V335V|TTN_ENST00000591111.1_Silent_p.V335V|TTN_ENST00000360870.5_Silent_p.V335V|TTN_ENST00000342175.6_Silent_p.V335V|TTN_ENST00000359218.5_Silent_p.V335V	p.V335V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		7	1229	-			335			ZIS1.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.1005G>T																																																																																					0.557	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	68	1	0	0.0381472	1	0.0391651	8	68				
ENTPD6	955	broad.mit.edu	37	20	25203553	25203553	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr20:25203553G>A	ENST00000376652.4	+	12	1288	c.1125G>A	c.(1123-1125)aaG>aaA	p.K375K	ENTPD6_ENST00000360031.2_Silent_p.K374K|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000354989.5_Silent_p.K358K|ENTPD6_ENST00000433259.2_Silent_p.K341K			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	375					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						AGGAAGTGAAGCATGTGGACT	0.577																																						ENST00000360031.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						c.(1120-1122)aaG>aaA		ectonucleoside triphosphate diphosphohydrolase 6 (putative)							194.0	163.0	173.0					20																	25203553		2203	4300	6503	SO:0001819	synonymous_variant	955					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25203553G>A	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.1125G>A	20.37:g.25203553G>A						ENTPD6_ENST00000376652.4_Silent_p.K375K|ENTPD6_ENST00000433259.2_Silent_p.K341K|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000354989.5_Silent_p.K358K	p.K374K	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN			12	1304	+			375					A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Silent	SNP	ENST00000376652.4	37	c.1122G>A	CCDS13170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.308|6.308	0.424979|0.424979	0.11987|0.11987	.|.	.|.	ENSG00000197586|ENSG00000197586	ENST00000376666|ENST00000433417;ENST00000447877	.|.	.|.	.|.	5.67|5.67	3.72|3.72	0.42706|0.42706	.|.	.|.	.|.	.|.	.|.	T|T	0.36082|0.36082	0.0954|0.0954	.|.	.|.	.|.	0.19945|0.19945	N|N	0.999948|0.999948	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.19712|0.19712	-1.0297|-1.0297	4|4	.|.	.|.	.|.	-7.7797|-7.7797	8.4892|8.4892	0.33089|0.33089	0.2378:0.0:0.7622:0.0|0.2378:0.0:0.7622:0.0	.|.	.|.	.|.	.|.	T|N	199|296;234	.|.	.|.	A|S	+|+	1|2	0|0	ENTPD6|ENTPD6	25151553|25151553	0.863000|0.863000	0.29885|0.29885	0.232000|0.232000	0.24009|0.24009	0.792000|0.792000	0.44763|0.44763	1.324000|1.324000	0.33712|0.33712	0.754000|0.754000	0.32968|0.32968	0.462000|0.462000	0.41574|0.41574	GCA|AGC		0.577	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			20	110	0	0	0	1	0	20	110				
ZNF202	7753	broad.mit.edu	37	11	123596941	123596941	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:123596941C>A	ENST00000529691.1	-	7	1930	c.1711G>T	c.(1711-1713)Ggg>Tgg	p.G571W	ZNF202_ENST00000530393.1_Missense_Mutation_p.G571W|ZNF202_ENST00000336139.4_Missense_Mutation_p.G571W			O95125	ZN202_HUMAN	zinc finger protein 202	571					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		AAGCAGCGCCCGCACTCGCTG	0.612																																						ENST00000336139.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(1711-1713)Ggg>Tgg		zinc finger protein 202							80.0	71.0	74.0					11																	123596941		2202	4299	6501	SO:0001583	missense	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123596941C>A	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.1711G>T	11.37:g.123596941C>A	ENSP00000433881:p.Gly571Trp					ZNF202_ENST00000529691.1_Missense_Mutation_p.G571W|ZNF202_ENST00000530393.1_Missense_Mutation_p.G571W	p.G571W			O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	8	2073	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	571					B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	c.1711G>T	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.572850	0.65765	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.60040	0.22;0.22;0.22	4.21	3.3	0.37823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000272	T	0.78848	0.4348	M	0.93016	3.37	0.44862	D	0.997875	D	0.89917	1.0	D	0.87578	0.998	T	0.81468	-0.0919	10	0.87932	D	0	-21.1221	9.8056	0.40791	0.0:0.8983:0.0:0.1017	.	571	O95125	ZN202_HUMAN	W	571	ENSP00000337724:G571W;ENSP00000432504:G571W;ENSP00000433881:G571W	ENSP00000337724:G571W	G	-	1	0	ZNF202	123102151	0.732000	0.28121	0.954000	0.39281	0.834000	0.47266	3.138000	0.50570	0.984000	0.38629	0.563000	0.77884	GGG		0.612	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		10	61	1	0	0.000442599	1	0.000500168	10	61				
CBLB	868	broad.mit.edu	37	3	105456029	105456029	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:105456029T>C	ENST00000264122.4	-	8	1378	c.1057A>G	c.(1057-1059)Ata>Gta	p.I353V	CBLB_ENST00000403724.1_Missense_Mutation_p.I353V|CBLB_ENST00000405772.1_Missense_Mutation_p.I353V|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000394027.3_Missense_Mutation_p.I375V	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	353	Linker.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GTAACTTTTATATGGTCATGA	0.299			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(1057-1059)Ata>Gta		Cbl proto-oncogene B, E3 ubiquitin protein ligase							106.0	111.0	109.0					3																	105456029		2201	4282	6483	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105456029T>C	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1057A>G	3.37:g.105456029T>C	ENSP00000264122:p.Ile353Val					CBLB_ENST00000405772.1_Missense_Mutation_p.I353V|CBLB_ENST00000394027.3_Missense_Mutation_p.I375V|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000403724.1_Missense_Mutation_p.I353V	p.I353V	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			8	1378	-			353			Linker.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.1057A>G	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	T	19.21	3.783037	0.70222	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48	5.26	5.26	0.73747	SH2 motif (2);	0.000000	0.85682	D	0.000000	D	0.92123	0.7503	N	0.25890	0.77	0.80722	D	1	B;B;P	0.41420	0.171;0.262;0.749	B;P;B	0.45794	0.298;0.493;0.314	D	0.93296	0.6672	10	0.87932	D	0	-19.2109	15.1431	0.72626	0.0:0.0:0.0:1.0	.	375;353;353	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	V	353;375;353;353	ENSP00000264122:I353V;ENSP00000377595:I375V;ENSP00000384816:I353V;ENSP00000384938:I353V	ENSP00000264122:I353V	I	-	1	0	CBLB	106938719	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.646000	0.83445	2.106000	0.64143	0.477000	0.44152	ATA		0.299	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		6	75	0	0	0	1	0	6	75				
MINK1	50488	broad.mit.edu	37	17	4797380	4797380	+	Missense_Mutation	SNP	G	G	A	rs559273719		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:4797380G>A	ENST00000355280.6	+	22	2858	c.2662G>A	c.(2662-2664)Gtc>Atc	p.V888I	MINK1_ENST00000453408.3_Missense_Mutation_p.V868I|MINK1_ENST00000347992.7_Missense_Mutation_p.V859I	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CACCATGGTGGTCCAGCGCGT	0.657																																						ENST00000355280.6																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(2662-2664)Gtc>Atc		misshapen-like kinase 1							36.0	43.0	41.0					17																	4797380		2075	4211	6286	SO:0001583	missense	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4797380G>A	AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"""misshapen/NIK-related kinase"""	609426	"""misshapen-like kinase 1 (zebrafish)"""			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.2662G>A	17.37:g.4797380G>A	ENSP00000347427:p.Val888Ile					MINK1_ENST00000347992.7_Missense_Mutation_p.V859I|MINK1_ENST00000453408.3_Missense_Mutation_p.V868I	p.V888I	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN			22	2858	+			888			Mediates interaction with RAP2A.			Missense_Mutation	SNP	ENST00000355280.6	37	c.2662G>A	CCDS45588.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138149	0.56936	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	T;T;T	0.73258	-0.73;-0.73;-0.73	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.60728	0.2291	L	0.39326	1.205	0.38005	D	0.934343	B;B;B;B	0.32101	0.356;0.356;0.243;0.356	B;B;B;B	0.30401	0.115;0.115;0.054;0.115	T	0.59989	-0.7350	10	0.13470	T	0.59	.	16.3669	0.83335	0.0:0.0:1.0:0.0	.	851;868;888;859	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	I	888;868;859	ENSP00000347427:V888I;ENSP00000406487:V868I;ENSP00000269296:V859I	ENSP00000269296:V859I	V	+	1	0	MINK1	4738156	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.045000	0.57368	2.723000	0.93209	0.655000	0.94253	GTC		0.657	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1	NM_015716		10	34	0	0	0	1	0	10	34				
DCHS2	54798	broad.mit.edu	37	4	155156083	155156083	+	Missense_Mutation	SNP	C	C	T	rs375321525		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:155156083C>T	ENST00000357232.4	-	25	8355	c.8356G>A	c.(8356-8358)Gag>Aag	p.E2786K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2786					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AATTTGGGCTCCCAACTAAGA	0.393																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(8356-8358)Gag>Aag		dachsous cadherin-related 2		C	LYS/GLU	0,4406		0,0,2203	116.0	116.0	116.0		8356	5.9	1.0	4		116	1,8599	1.2+/-3.3	0,1,4299	no	missense	DCHS2	NM_017639.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	2786/2917	155156083	1,13005	2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155156083C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.8356G>A	4.37:g.155156083C>T	ENSP00000349768:p.Glu2786Lys						p.E2786K	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	8355	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2786					B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.8356G>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173575	0.78452	0.0	1.16E-4	ENSG00000197410	ENST00000357232	T	0.55413	0.52	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.55114	0.1900	M	0.71581	2.175	0.80722	D	1	D	0.53312	0.959	P	0.46076	0.503	T	0.52525	-0.8564	10	0.11794	T	0.64	.	15.4364	0.75149	0.0:0.9321:0.0:0.0679	.	2786	Q6V1P9	PCD23_HUMAN	K	2786	ENSP00000349768:E2786K	ENSP00000349768:E2786K	E	-	1	0	DCHS2	155375533	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.593000	0.46180	2.812000	0.96745	0.557000	0.71058	GAG		0.393	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		10	96	0	0	0	1	0	10	96				
KDM6A	7403	broad.mit.edu	37	X	44929078	44929078	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:44929078G>T	ENST00000377967.4	+	17	2219	c.2178G>T	c.(2176-2178)acG>acT	p.T726T	KDM6A_ENST00000536777.1_Silent_p.T681T|KDM6A_ENST00000382899.4_Silent_p.T733T|KDM6A_ENST00000543216.1_Silent_p.T647T	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	726	Interaction with SUPT6H. {ECO:0000250}.		T -> K (in dbSNP:rs2230018). {ECO:0000269|PubMed:15489334}.		canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ACATATTGACGGTGCCTGAAA	0.507			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(2176-2178)acG>acT		lysine (K)-specific demethylase 6A							102.0	72.0	83.0					X																	44929078		2203	4300	6503	SO:0001819	synonymous_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44929078G>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2178G>T	X.37:g.44929078G>T						KDM6A_ENST00000543216.1_Silent_p.T647T|KDM6A_ENST00000536777.1_Silent_p.T681T|KDM6A_ENST00000382899.4_Silent_p.T733T	p.T726T	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			17	2219	+			726		T -> K (in dbSNP:rs2230018).			Q52LL9|Q5JVQ7	Silent	SNP	ENST00000377967.4	37	c.2178G>T	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	2.317	-0.356586	0.05138	.	.	ENSG00000147050	ENST00000414389;ENST00000433797	.	.	.	4.82	-3.58	0.04597	.	.	.	.	.	T	0.30854	0.0778	.	.	.	0.30323	N	0.787395	.	.	.	.	.	.	T	0.41052	-0.9530	4	.	.	.	5.3612	8.2805	0.31898	0.7152:0.0:0.155:0.1297	.	.	.	.	C	324;369	.	.	G	+	1	0	KDM6A	44814022	0.030000	0.19436	0.052000	0.19188	0.924000	0.55760	0.264000	0.18497	-0.827000	0.04278	-0.849000	0.03036	GGT		0.507	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		3	21	1	0	0.004672	1	0.00498676	3	21				
PRAMEF1	65121	broad.mit.edu	37	1	12855707	12855707	+	Silent	SNP	C	C	T	rs200695310		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:12855707C>T	ENST00000332296.7	+	4	1090	c.987C>T	c.(985-987)taC>taT	p.Y329Y	PRAMEF1_ENST00000400814.3_Silent_p.Y84Y	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	329					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)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTCAGCTACGTGCTGCTGT	0.488																																						ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(985-987)taC>taT		PRAME family member 1							95.0	102.0	100.0					1																	12855707		2202	4297	6499	SO:0001819	synonymous_variant	65121							g.chr1:12855707C>T	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.987C>T	1.37:g.12855707C>T						PRAMEF1_ENST00000400814.3_Silent_p.Y84Y	p.Y329Y	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1090	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	329					Q9UQP2	Silent	SNP	ENST00000332296.7	37	c.987C>T	CCDS148.1																																																																																				0.488	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		9	166	0	0	0	1	0	9	166				
RPLP0P6	220717	broad.mit.edu	37	2	38709079	38709079	+	lincRNA	SNP	C	C	T	rs111340107		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:38709079C>T	ENST00000417039.1	-	0	696																											AATGTTTCATCGTGGGAGCAG	0.537																																						ENST00000417039.1																			0																																																			220717							g.chr2:38709079C>T																													2.37:g.38709079C>T														0	696	-									RNA	SNP	ENST00000417039.1	37																																																																																						0.537	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			6	44	0	0	0	1	0	6	44				
CACNA1A	773	broad.mit.edu	37	19	13414638	13414638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:13414638C>T	ENST00000360228.5	-	16	2046	c.2047G>A	c.(2047-2049)Gtg>Atg	p.V683M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V684M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	684					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CCGCCCTGCACGCCCCCCTGA	0.557																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(2047-2049)Gtg>Atg		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						174.0	179.0	177.0					19																	13414638		2034	4181	6215	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13414638C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2047G>A	19.37:g.13414638C>T	ENSP00000353362:p.Val683Met					CACNA1A_ENST00000573710.2_Missense_Mutation_p.V684M	p.V683M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		16	2046	-			684					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.2047G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688013	0.48097	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98512	-4.97	4.58	3.55	0.40652	Ion transport (1);	0.000000	0.64402	D	0.000004	D	0.98726	0.9572	M	0.83483	2.645	0.43342	D	0.995391	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.99211	1.0876	10	0.66056	D	0.02	.	11.6149	0.51083	0.0:0.9113:0.0:0.0887	.	684;684;683	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	M	683;684;684;684	ENSP00000353362:V683M	ENSP00000317661:V684M	V	-	1	0	CACNA1A	13275638	1.000000	0.71417	0.995000	0.50966	0.902000	0.53008	5.824000	0.69279	1.151000	0.42436	-0.229000	0.12294	GTG		0.557	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		26	128	0	0	0	1	0	26	128				
TTC21B	79809	broad.mit.edu	37	2	166744891	166744891	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:166744891G>C	ENST00000243344.7	-	25	3494	c.3357C>G	c.(3355-3357)caC>caG	p.H1119Q	TTC21B_ENST00000536175.1_Missense_Mutation_p.H57Q	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1119					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GAAGCTGTACGTGACCCTGAA	0.378																																						ENST00000243344.7																			0				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.(3355-3357)caC>caG		tetratricopeptide repeat domain 21B							144.0	128.0	134.0					2																	166744891		2202	4300	6502	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166744891G>C	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.3357C>G	2.37:g.166744891G>C	ENSP00000243344:p.His1119Gln					TTC21B_ENST00000536175.1_Missense_Mutation_p.H57Q	p.H1119Q	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN			25	3494	-			1119					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.3357C>G	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.051511	0.00394	.	.	ENSG00000123607	ENST00000536175;ENST00000243344	T;T	0.61859	0.07;0.31	5.77	-11.5	0.00074	Tetratricopeptide-like helical (1);	0.085098	0.85682	N	0.000000	T	0.25754	0.0627	N	0.25485	0.75	0.26546	N	0.973993	B	0.06786	0.001	B	0.10450	0.005	T	0.40720	-0.9548	10	0.06891	T	0.86	-7.3736	5.6926	0.17837	0.5566:0.076:0.2131:0.1543	.	1119	Q7Z4L5	TT21B_HUMAN	Q	57;1119	ENSP00000438692:H57Q;ENSP00000243344:H1119Q	ENSP00000243344:H1119Q	H	-	3	2	TTC21B	166453137	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	-0.642000	0.05427	-3.774000	0.00108	-2.193000	0.00311	CAC		0.378	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		11	37	0	0	0	1	0	11	37				
OSBP2	23762	broad.mit.edu	37	22	31283464	31283464	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr22:31283464C>T	ENST00000332585.6	+	4	1263	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	OSBP2_ENST00000403222.3_Missense_Mutation_p.R222W|OSBP2_ENST00000401475.1_Missense_Mutation_p.R21W|OSBP2_ENST00000437268.2_Missense_Mutation_p.R129W|OSBP2_ENST00000446658.2_Missense_Mutation_p.R387W|OSBP2_ENST00000407373.1_Missense_Mutation_p.R214W|OSBP2_ENST00000382310.3_Missense_Mutation_p.R387W|OSBP2_ENST00000535268.1_5'UTR	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	387					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GAAATGGCAGCGGGCACTGCA	0.622																																						ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(1159-1161)Cgg>Tgg		oxysterol binding protein 2							51.0	60.0	57.0					22																	31283464		2158	4263	6421	SO:0001583	missense	23762				lipid transport	membrane	lipid binding	g.chr22:31283464C>T		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1159C>T	22.37:g.31283464C>T	ENSP00000332576:p.Arg387Trp					OSBP2_ENST00000403222.3_Missense_Mutation_p.R222W|OSBP2_ENST00000535268.1_5'UTR|OSBP2_ENST00000382310.3_Missense_Mutation_p.R387W|OSBP2_ENST00000446658.2_Missense_Mutation_p.R387W|OSBP2_ENST00000407373.1_Missense_Mutation_p.R214W|OSBP2_ENST00000437268.2_Missense_Mutation_p.R129W|OSBP2_ENST00000401475.1_Missense_Mutation_p.R21W	p.R387W	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN			4	1263	+			387					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	c.1159C>T	CCDS43002.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952568	0.73787	.	.	ENSG00000184792	ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658;ENST00000445781;ENST00000401475;ENST00000424224;ENST00000437268;ENST00000452656	T;T;T;T;T;T;T	0.52754	0.69;0.68;1.29;1.16;1.29;0.68;0.65	4.53	3.46	0.39613	.	0.066676	0.64402	D	0.000007	T	0.68054	0.2959	M	0.80847	2.515	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	0.77557	0.99;0.96;0.976;0.976;0.982;0.987	T	0.71192	-0.4665	10	0.44086	T	0.13	-16.9379	14.7599	0.69600	0.1544:0.8456:0.0:0.0	.	129;387;222;214;387;387	F5H2A3;B4DFA8;B4DKE4;Q6ZN50;Q0VF99;Q969R2	.;.;.;.;.;OSBP2_HUMAN	W	222;214;387;387;387;21;21;21;129;18	ENSP00000384213:R222W;ENSP00000385237:R214W;ENSP00000332576:R387W;ENSP00000371747:R387W;ENSP00000392080:R387W;ENSP00000385254:R21W;ENSP00000389200:R129W	ENSP00000332576:R387W	R	+	1	2	OSBP2	29613464	0.918000	0.31147	0.998000	0.56505	0.997000	0.91878	0.560000	0.23500	2.357000	0.79964	0.563000	0.77884	CGG		0.622	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		13	76	0	0	0	1	0	13	76				
FAM135B	51059	broad.mit.edu	37	8	139164628	139164628	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:139164628C>A	ENST00000395297.1	-	13	2260	c.2090G>T	c.(2089-2091)tGg>tTg	p.W697L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	697										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGCCTCTGACCAGGCGACGGA	0.557										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(2089-2091)tGg>tTg		family with sequence similarity 135, member B							50.0	51.0	50.0					8																	139164628		1928	4113	6041	SO:0001583	missense	51059							g.chr8:139164628C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2090G>T	8.37:g.139164628C>A	ENSP00000378710:p.Trp697Leu	HNSCC(54;0.14)					p.W697L	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2260	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		697					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2090G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222472	0.58668	.	.	ENSG00000147724	ENST00000395297	T	0.15256	2.44	5.65	5.65	0.86999	.	0.064498	0.64402	D	0.000003	T	0.43809	0.1264	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;0.972	T	0.09100	-1.0690	10	0.30854	T	0.27	-13.2841	18.7244	0.91708	0.0:1.0:0.0:0.0	.	697;697;697	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	L	697	ENSP00000378710:W697L	ENSP00000276737:W697L	W	-	2	0	FAM135B	139233810	1.000000	0.71417	1.000000	0.80357	0.401000	0.30781	5.900000	0.69853	2.678000	0.91216	0.655000	0.94253	TGG		0.557	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		14	48	1	0	1.41608e-15	1	2.17114e-15	14	48				
TRPC4	7223	broad.mit.edu	37	13	38237740	38237740	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:38237740G>T	ENST00000379705.3	-	6	2358	c.1501C>A	c.(1501-1503)Cac>Aac	p.H501N	TRPC4_ENST00000358477.2_Missense_Mutation_p.H501N|TRPC4_ENST00000379673.2_Missense_Mutation_p.H501N|TRPC4_ENST00000379679.1_Missense_Mutation_p.H328N|TRPC4_ENST00000379681.3_Missense_Mutation_p.H501N|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000447043.1_Missense_Mutation_p.H501N|TRPC4_ENST00000355779.2_Missense_Mutation_p.H501N|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000338947.5_Missense_Mutation_p.H328N			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	501					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GGTCCCAGGTGAGAATTTGCA	0.443																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(1501-1503)Cac>Aac		transient receptor potential cation channel, subfamily C, member 4							89.0	88.0	88.0					13																	38237740		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38237740G>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1501C>A	13.37:g.38237740G>T	ENSP00000369027:p.His501Asn					TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.H501N|TRPC4_ENST00000338947.5_Missense_Mutation_p.H328N|TRPC4_ENST00000379679.1_Missense_Mutation_p.H328N|TRPC4_ENST00000447043.1_Missense_Mutation_p.H501N|TRPC4_ENST00000379673.2_Missense_Mutation_p.H501N|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000355779.2_Missense_Mutation_p.H501N|TRPC4_ENST00000358477.2_Missense_Mutation_p.H501N	p.H501N			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	6	2358	-			501					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.1501C>A	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871879	0.91587	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	D;D;D;D;D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92	6.08	6.08	0.98989	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98632	0.9542	L	0.56124	1.755	0.80722	D	1	D;D;D;D;D;D	0.76494	0.998;0.999;0.989;0.998;0.996;0.988	D;D;D;D;D;D	0.72982	0.936;0.972;0.979;0.974;0.955;0.962	D	0.99601	1.0978	10	0.66056	D	0.02	-20.9051	20.6634	0.99662	0.0:0.0:1.0:0.0	.	501;501;501;328;501;501	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	N	501;501;328;328;501;501;501;501	ENSP00000369027:H501N;ENSP00000369003:H501N;ENSP00000342580:H328N;ENSP00000369001:H328N;ENSP00000348025:H501N;ENSP00000351264:H501N;ENSP00000368995:H501N;ENSP00000414316:H501N	ENSP00000342580:H328N	H	-	1	0	TRPC4	37135740	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.860000	0.99555	2.894000	0.99253	0.655000	0.94253	CAC		0.443	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		9	49	1	0	1.12685e-05	1	1.36711e-05	9	49				
LRRC18	474354	broad.mit.edu	37	10	50121750	50121750	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:50121750G>T	ENST00000374160.3	-	1	527	c.451C>A	c.(451-453)Ctc>Atc	p.L151I	WDFY4_ENST00000413659.2_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.L151I|RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000325239.5_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	151						cytoplasm (GO:0005737)				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TTGTCATGGAGCCCTACCTCG	0.557																																						ENST00000374160.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						c.(451-453)Ctc>Atc		leucine rich repeat containing 18							93.0	90.0	91.0					10																	50121750		2203	4300	6503	SO:0001583	missense	474354					cytoplasm		g.chr10:50121750G>T	AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.451C>A	10.37:g.50121750G>T	ENSP00000363275:p.Leu151Ile					RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Missense_Mutation_p.L151I|WDFY4_ENST00000325239.5_Intron|WDFY4_ENST00000413659.2_Intron	p.L151I	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN			1	527	-			151					Q6UY02	Missense_Mutation	SNP	ENST00000374160.3	37	c.451C>A	CCDS31197.1	.	.	.	.	.	.	.	.	.	.	G	7.673	0.687473	0.14973	.	.	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.66815	-0.23;-0.23	5.98	5.03	0.67393	.	0.123713	0.56097	D	0.000033	T	0.71685	0.3369	M	0.80508	2.5	0.35453	D	0.795891	P	0.48294	0.908	B	0.42771	0.397	T	0.80926	-0.1164	9	.	.	.	.	18.6631	0.91478	0.0:0.1832:0.8168:0.0	.	151	Q8N456	LRC18_HUMAN	I	151	ENSP00000363275:L151I;ENSP00000298124:L151I	.	L	-	1	0	LRRC18	49791756	1.000000	0.71417	0.229000	0.23960	0.179000	0.23085	3.189000	0.50965	2.838000	0.97847	0.655000	0.94253	CTC		0.557	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047964.1	NM_001006939		3	21	1	0	0.115264	1	0.117444	3	21				
DSEL	92126	broad.mit.edu	37	18	65180863	65180863	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:65180863C>A	ENST00000310045.7	-	2	2486	c.1013G>T	c.(1012-1014)gGt>gTt	p.G338V	CTD-2541J13.2_ENST00000583493.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	328					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				ATCTGCTATACCCACAGTTCT	0.373																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1012-1014)gGt>gTt		dermatan sulfate epimerase-like							71.0	75.0	74.0					18																	65180863		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65180863C>A	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1013G>T	18.37:g.65180863C>A	ENSP00000310565:p.Gly338Val					CTD-2541J13.2_ENST00000583493.1_RNA	p.G338V	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	2486	-		Esophageal squamous(42;0.129)	328					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.1013G>T	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707180	0.68615	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.23950	1.88	4.9	4.9	0.64082	.	0.000000	0.85682	U	0.000000	T	0.53514	0.1801	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58781	-0.7576	10	0.87932	D	0	-15.8627	18.4609	0.90737	0.0:1.0:0.0:0.0	.	328	Q8IZU8	DSEL_HUMAN	V	338;328	ENSP00000310565:G338V	ENSP00000310565:G338V	G	-	2	0	DSEL	63331843	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.899000	0.69846	2.460000	0.83146	0.563000	0.77884	GGT		0.373	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		11	74	1	0	0.000978159	1	0.00108714	11	74				
PRR23B	389151	broad.mit.edu	37	3	138738769	138738769	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:138738769G>A	ENST00000329447.5	-	1	999	c.735C>T	c.(733-735)caC>caT	p.H245H	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	245	Pro-rich.							p.H245Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGAGCGCGCGTGGGGACCTG	0.667																																						ENST00000329447.5																			1	Substitution - Missense(1)	p.H245Q(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(733-735)caC>caT		proline rich 23B							17.0	20.0	19.0					3																	138738769		2194	4286	6480	SO:0001819	synonymous_variant	389151							g.chr3:138738769G>A	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.735C>T	3.37:g.138738769G>A						MRPS22_ENST00000495075.1_Intron	p.H245H	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN			1	999	-			245			Pro-rich.		B2RNV9	Silent	SNP	ENST00000329447.5	37	c.735C>T	CCDS33868.1																																																																																				0.667	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		9	54	0	0	0	1	0	9	54				
OR2T8	343172	broad.mit.edu	37	1	248084547	248084547	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:248084547G>T	ENST00000319968.4	+	1	228	c.228G>T	c.(226-228)gtG>gtT	p.V76V		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCACCACTGTGCCCAAAATGG	0.577																																						ENST00000319968.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(226-228)gtG>gtT		olfactory receptor, family 2, subfamily T, member 8							53.0	50.0	51.0					1																	248084547		2198	4297	6495	SO:0001819	synonymous_variant	343172				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248084547G>T		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.228G>T	1.37:g.248084547G>T							p.V76V	NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	228	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	76						Silent	SNP	ENST00000319968.4	37	c.228G>T	CCDS31100.1																																																																																				0.577	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		22	165	1	0	1.68575e-08	1	2.27394e-08	22	165				
POLR3B	55703	broad.mit.edu	37	12	106772047	106772047	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:106772047G>A	ENST00000228347.4	+	8	721	c.499G>A	c.(499-501)Ggc>Agc	p.G167S	POLR3B_ENST00000539066.1_Missense_Mutation_p.G109S	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	167					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTGGGTAGGTGGCTACTTCAT	0.388																																						ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(499-501)Ggc>Agc		polymerase (RNA) III (DNA directed) polypeptide B							108.0	108.0	108.0					12																	106772047		2203	4300	6503	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106772047G>A	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.499G>A	12.37:g.106772047G>A	ENSP00000228347:p.Gly167Ser					POLR3B_ENST00000539066.1_Missense_Mutation_p.G109S	p.G167S	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			8	721	+			167					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.499G>A	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	35	5.449362	0.96205	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066	D;D	0.94457	-3.43;-3.43	5.73	5.73	0.89815	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.98541	0.9513	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99395	1.0926	10	0.87932	D	0	-9.8738	19.49	0.95047	0.0:0.0:1.0:0.0	.	167	Q9NW08	RPC2_HUMAN	S	167;167;109	ENSP00000228347:G167S;ENSP00000445721:G109S	ENSP00000228347:G167S	G	+	1	0	POLR3B	105296177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.693000	0.98684	2.704000	0.92352	0.650000	0.86243	GGC		0.388	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		16	70	0	0	0	1	0	16	70				
OR5F1	338674	broad.mit.edu	37	11	55761531	55761531	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:55761531C>A	ENST00000278409.1	-	1	570	c.571G>T	c.(571-573)Gac>Tac	p.D191Y		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	191					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGGATTGTGTCAGAACAAGAG	0.458																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(571-573)Gac>Tac		olfactory receptor, family 5, subfamily F, member 1							91.0	85.0	87.0					11																	55761531		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761531C>A	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.571G>T	11.37:g.55761531C>A	ENSP00000278409:p.Asp191Tyr						p.D191Y	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	570	-	Esophageal squamous(21;0.00448)		191					Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.571G>T	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866016	0.32977	.	.	ENSG00000149133	ENST00000278409	T	0.00267	8.38	3.03	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00666	0.0022	M	0.90252	3.1	0.30292	N	0.790319	D	0.76494	0.999	D	0.74674	0.984	T	0.11891	-1.0569	9	0.72032	D	0.01	.	12.8922	0.58078	0.0:1.0:0.0:0.0	.	191	O95221	OR5F1_HUMAN	Y	191	ENSP00000278409:D191Y	ENSP00000278409:D191Y	D	-	1	0	OR5F1	55518107	0.000000	0.05858	0.684000	0.30055	0.540000	0.34992	-0.119000	0.10676	1.422000	0.47177	0.297000	0.19635	GAC		0.458	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		13	65	1	0	7.03913e-09	1	9.65639e-09	13	65				
ERP44	23071	broad.mit.edu	37	9	102784415	102784415	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:102784415C>G	ENST00000262455.6	-	5	579	c.380G>C	c.(379-381)cGa>cCa	p.R127P		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	127	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|glycoprotein metabolic process (GO:0009100)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						TTTCACTGATCGCTGACCCCT	0.418																																						ENST00000262455.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						c.(379-381)cGa>cCa		endoplasmic reticulum protein 44							184.0	168.0	173.0					9																	102784415		2203	4300	6503	SO:0001583	missense	23071				cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity	g.chr9:102784415C>G	AB011145	CCDS35082.1	9q22.33	2011-10-19	2009-02-23	2009-02-23	ENSG00000023318	ENSG00000023318		"""Protein disulfide isomerases"""	18311	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 10"""	609170	"""thioredoxin domain containing 4 (endoplasmic reticulum)"""	TXNDC4		11847130	Standard	NM_015051		Approved	KIAA0573, PDIA10	uc004bam.3	Q9BS26	OTTHUMG00000020363	ENST00000262455.6:c.380G>C	9.37:g.102784415C>G	ENSP00000262455:p.Arg127Pro						p.R127P	NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN			5	579	-			127			Thioredoxin.		O60319|Q4VXC1|Q5VWZ7|Q6UW14|Q8WX67	Missense_Mutation	SNP	ENST00000262455.6	37	c.380G>C	CCDS35082.1	.	.	.	.	.	.	.	.	.	.	C	32	5.113907	0.94339	.	.	ENSG00000023318	ENST00000262455	T	0.45668	0.89	5.81	5.81	0.92471	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.74068	0.3668	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79266	-0.1874	10	0.87932	D	0	-0.2062	20.089	0.97809	0.0:1.0:0.0:0.0	.	127	Q9BS26	ERP44_HUMAN	P	127	ENSP00000262455:R127P	ENSP00000262455:R127P	R	-	2	0	ERP44	101824236	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.406000	0.80017	2.752000	0.94435	0.557000	0.71058	CGA		0.418	ERP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053402.1	XM_088476		23	127	0	0	0	1	0	23	127				
PCDHA7	56141	broad.mit.edu	37	5	140214112	140214112	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140214112C>T	ENST00000525929.1	+	1	144	c.144C>T	c.(142-144)atC>atT	p.I48I	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.I48I|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	48	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCCGCATCGCGCAGGACC	0.597																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(142-144)atC>atT									59.0	73.0	68.0					5																	140214112		2203	4299	6502	SO:0001819	synonymous_variant	56141							g.chr5:140214112C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.144C>T	5.37:g.140214112C>T						PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.I48I	p.I48I	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	144	+								O75282	Silent	SNP	ENST00000525929.1	37	c.144C>T	CCDS54918.1																																																																																				0.597	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		15	117	0	0	0	1	0	15	117				
OR5F1	338674	broad.mit.edu	37	11	55761194	55761194	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:55761194T>A	ENST00000278409.1	-	1	907	c.908A>T	c.(907-909)aAt>aTt	p.N303I		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	303					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GCTAATTACATTCGCTAAAGC	0.383																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(907-909)aAt>aTt		olfactory receptor, family 5, subfamily F, member 1							57.0	58.0	58.0					11																	55761194		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761194T>A	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.908A>T	11.37:g.55761194T>A	ENSP00000278409:p.Asn303Ile						p.N303I	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	907	-	Esophageal squamous(21;0.00448)		303					Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.908A>T	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.274740	0.23307	.	.	ENSG00000149133	ENST00000278409	T	0.37915	1.17	2.99	2.99	0.34606	.	.	.	.	.	T	0.23806	0.0576	L	0.31157	0.91	0.09310	N	1	P	0.46395	0.877	B	0.36030	0.216	T	0.09292	-1.0681	9	0.87932	D	0	.	9.3862	0.38345	0.0:0.0:0.0:1.0	.	303	O95221	OR5F1_HUMAN	I	303	ENSP00000278409:N303I	ENSP00000278409:N303I	N	-	2	0	OR5F1	55517770	0.000000	0.05858	0.009000	0.14445	0.006000	0.05464	0.242000	0.18087	1.163000	0.42636	0.241000	0.17934	AAT		0.383	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		4	44	0	0	0	1	0	4	44				
CCDC132	55610	broad.mit.edu	37	7	92935314	92935314	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:92935314G>T	ENST00000305866.5	+	18	1755	c.1627G>T	c.(1627-1629)Ggg>Tgg	p.G543W	CCDC132_ENST00000535481.1_Missense_Mutation_p.G263W|CCDC132_ENST00000541136.1_Missense_Mutation_p.G354W|CCDC132_ENST00000317751.6_Missense_Mutation_p.G274W|CCDC132_ENST00000544910.1_Missense_Mutation_p.G513W	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	543						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGCTTCTAATGGGGTATGTGG	0.358																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(1537-1539)Ggg>Tgg		coiled-coil domain containing 132							116.0	107.0	110.0					7																	92935314		1870	4119	5989	SO:0001583	missense	55610							g.chr7:92935314G>T	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1627G>T	7.37:g.92935314G>T	ENSP00000307666:p.Gly543Trp					CCDC132_ENST00000305866.5_Missense_Mutation_p.G543W|CCDC132_ENST00000535481.1_Missense_Mutation_p.G263W|CCDC132_ENST00000541136.1_Missense_Mutation_p.G354W|CCDC132_ENST00000317751.6_Missense_Mutation_p.G274W	p.G513W	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		19	1757	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		543					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.1537G>T	CCDS43617.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.5|25.5	4.646327|4.646327	0.87958|0.87958	.|.	.|.	ENSG00000004766|ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481;ENST00000317751|ENST00000458707	T|.	0.50548|.	0.74|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74749|0.74749	0.3757|0.3757	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.997;0.999;0.997|.	T|T	0.71407|0.71407	-0.4602|-0.4602	10|5	0.72032|.	D|.	0.01|.	-4.0472|-4.0472	19.9947|19.9947	0.97381|0.97381	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	263;513;543|.	B4DS55;F5H5U7;Q96JG6|.	.;.;CC132_HUMAN|.	W|I	543;513;354;263;274|329	ENSP00000325582:G274W|.	ENSP00000307666:G543W|.	G|M	+|+	1|3	0|0	CCDC132|CCDC132	92773250|92773250	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	9.198000|9.198000	0.94994|0.94994	2.794000|2.794000	0.96219|0.96219	0.650000|0.650000	0.86243|0.86243	GGG|ATG		0.358	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		21	87	1	0	1.2644e-06	1	1.59631e-06	21	87				
DHX32	55760	broad.mit.edu	37	10	127525408	127525408	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:127525408G>A	ENST00000284690.3	-	11	2570	c.2080C>T	c.(2080-2082)Cca>Tca	p.P694S	DHX32_ENST00000284688.6_Missense_Mutation_p.P613S|DHX32_ENST00000368721.1_Missense_Mutation_p.P318S|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000368759.5_Intron|BCCIP_ENST00000299130.3_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	694						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TAGTATTGTGGTACCAGCTGC	0.408																																						ENST00000284690.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29						c.(2080-2082)Cca>Tca		DEAH (Asp-Glu-Ala-His) box polypeptide 32							147.0	130.0	136.0					10																	127525408		2203	4300	6503	SO:0001583	missense	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127525408G>A		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.2080C>T	10.37:g.127525408G>A	ENSP00000284690:p.Pro694Ser					BCCIP_ENST00000368759.5_Intron|BCCIP_ENST00000429863.2_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.P318S|DHX32_ENST00000284688.6_Missense_Mutation_p.P613S|BCCIP_ENST00000299130.3_Intron	p.P694S	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN			11	2570	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	694					A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	ENST00000284690.3	37	c.2080C>T	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688656	0.88639	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.26660	1.72;3.63;3.28	4.72	4.72	0.59763	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67173	-0.5737	10	0.87932	D	0	-15.6415	17.901	0.88904	0.0:0.0:1.0:0.0	.	694	Q7L7V1	DHX32_HUMAN	S	318;694;613	ENSP00000357710:P318S;ENSP00000284690:P694S;ENSP00000284688:P613S	ENSP00000284688:P613S	P	-	1	0	DHX32	127515398	1.000000	0.71417	0.996000	0.52242	0.947000	0.59692	7.431000	0.80335	2.450000	0.82876	0.563000	0.77884	CCA		0.408	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		4	30	0	0	0	1	0	4	30				
LRRTM4	80059	broad.mit.edu	37	2	77745493	77745493	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:77745493T>A	ENST00000409093.1	-	3	1838	c.1502A>T	c.(1501-1503)aAt>aTt	p.N501I	LRRTM4_ENST00000409282.1_Missense_Mutation_p.N502I|LRRTM4_ENST00000409884.1_Missense_Mutation_p.N501I|LRRTM4_ENST00000409088.3_Missense_Mutation_p.N501I|LRRTM4_ENST00000409911.1_Missense_Mutation_p.N502I			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	501					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CCCAGATCCATTAACCGATAT	0.453																																						ENST00000409088.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(1501-1503)aAt>aTt		leucine rich repeat transmembrane neuronal 4							83.0	82.0	82.0					2																	77745493		1886	4119	6005	SO:0001583	missense	80059					integral to membrane		g.chr2:77745493T>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1502A>T	2.37:g.77745493T>A	ENSP00000386357:p.Asn501Ile					LRRTM4_ENST00000409884.1_Missense_Mutation_p.N501I|LRRTM4_ENST00000409093.1_Missense_Mutation_p.N501I|LRRTM4_ENST00000409282.1_Missense_Mutation_p.N502I|LRRTM4_ENST00000409911.1_Missense_Mutation_p.N502I	p.N501I	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1916	-			501					Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.1502A>T	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.268801	0.59540	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.68025	-0.3;-0.27;-0.27;-0.05;-0.05	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.81240	0.4781	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.99;0.996;0.99	D	0.83669	0.0165	10	0.87932	D	0	.	14.4863	0.67619	0.0:0.0:0.0:1.0	.	502;501;501	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	I	502;501;501;501;502	ENSP00000387228:N502I;ENSP00000387297:N501I;ENSP00000386357:N501I;ENSP00000386236:N501I;ENSP00000386286:N502I	ENSP00000386236:N501I	N	-	2	0	LRRTM4	77599001	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.032000	0.88838	2.095000	0.63458	0.450000	0.29827	AAT		0.453	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		7	29	0	0	0	1	0	7	29				
MXRA5	25878	broad.mit.edu	37	X	3239484	3239484	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:3239484C>A	ENST00000217939.6	-	5	4396	c.4242G>T	c.(4240-4242)gaG>gaT	p.E1414D		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1414						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AATCCACATCCTCAAGCTCTT	0.488																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(4240-4242)gaG>gaT		matrix-remodelling associated 5							42.0	39.0	40.0					X																	3239484		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3239484C>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.4242G>T	X.37:g.3239484C>A	ENSP00000217939:p.Glu1414Asp						p.E1414D	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	4396	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1414					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.4242G>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	7.551	0.662637	0.14645	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.63417	-0.04	2.49	-3.19	0.05171	.	1.822670	0.03961	N	0.290057	T	0.44074	0.1276	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12167	-1.0558	10	0.35671	T	0.21	.	2.036	0.03540	0.1753:0.3487:0.3438:0.1322	.	1414	Q9NR99	MXRA5_HUMAN	D	1414	ENSP00000217939:E1414D	ENSP00000217939:E1414D	E	-	3	2	MXRA5	3249484	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.004000	0.12878	-0.596000	0.05821	-0.545000	0.04230	GAG		0.488	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		20	26	1	0	5.35267e-07	1	6.86501e-07	20	26				
SLITRK2	84631	broad.mit.edu	37	X	144903949	144903949	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:144903949G>A	ENST00000370490.1	+	1	4261	c.6G>A	c.(4-6)ctG>ctA	p.L2L	SLITRK2_ENST00000447897.2_Silent_p.L2L|SLITRK2_ENST00000428560.2_Silent_p.L2L|SLITRK2_ENST00000434188.2_Silent_p.L2L|SLITRK2_ENST00000413937.2_Silent_p.L2L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	2					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TAAAGATGCTGAGCGGCGTTT	0.537																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(4-6)ctG>ctA		SLIT and NTRK-like family, member 2							54.0	52.0	53.0					X																	144903949		2203	4300	6503	SO:0001819	synonymous_variant	84631					integral to membrane		g.chrX:144903949G>A	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.6G>A	X.37:g.144903949G>A						SLITRK2_ENST00000413937.2_Silent_p.L2L|SLITRK2_ENST00000434188.2_Silent_p.L2L|SLITRK2_ENST00000447897.2_Silent_p.L2L|SLITRK2_ENST00000428560.2_Silent_p.L2L	p.L2L			Q9H156	SLIK2_HUMAN			1	4261	+	Acute lymphoblastic leukemia(192;6.56e-05)		2					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	c.6G>A	CCDS14680.1																																																																																				0.537	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		4	16	0	0	0	1	0	4	16				
MUC17	140453	broad.mit.edu	37	7	100679319	100679319	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:100679319C>A	ENST00000306151.4	+	3	4686	c.4622C>A	c.(4621-4623)aCc>aAc	p.T1541N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1541	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)					CCTGCTGTCACCAGCACACCT	0.478																																						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.(4621-4623)aCc>aAc		mucin 17, cell surface associated							254.0	229.0	237.0					7																	100679319		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679319C>A	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.4622C>A	7.37:g.100679319C>A	ENSP00000302716:p.Thr1541Asn						p.T1541N	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4686	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1541			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4622C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.719	-0.784120	0.02907	.	.	ENSG00000169876	ENST00000306151	T	0.01947	4.54	0.922	-1.84	0.07809	.	.	.	.	.	T	0.00936	0.0031	N	0.17082	0.46	0.09310	N	1	P	0.42993	0.797	B	0.25759	0.063	T	0.48068	-0.9067	9	0.16420	T	0.52	.	2.5186	0.04675	0.0:0.4063:0.3043:0.2894	.	1541	Q685J3	MUC17_HUMAN	N	1541	ENSP00000302716:T1541N	ENSP00000302716:T1541N	T	+	2	0	MUC17	100466039	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.402000	0.07223	-0.913000	0.03832	0.121000	0.15741	ACC		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		20	281	1	0	5.03518e-11	1	7.27805e-11	20	281				
FMN2	56776	broad.mit.edu	37	1	240255953	240255953	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:240255953G>T	ENST00000319653.9	+	1	774	c.544G>T	c.(544-546)Gac>Tac	p.D182Y		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	182					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.D325Y(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCGGACACGGACATCTATAG	0.632																																						ENST00000319653.9																			1	Substitution - Missense(1)	p.D325Y(1)	lung(1)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(544-546)Gac>Tac		formin 2							70.0	70.0	70.0					1																	240255953		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240255953G>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.544G>T	1.37:g.240255953G>T	ENSP00000318884:p.Asp182Tyr						p.D182Y	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	774	+	Ovarian(103;0.127)	all_cancers(173;0.013)	182					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.544G>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557154	0.45590	.	.	ENSG00000155816	ENST00000319653	T	0.51574	0.7	4.35	4.35	0.52113	.	0.000000	0.64402	D	0.000007	T	0.66499	0.2795	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.71705	-0.4512	10	0.87932	D	0	.	17.232	0.86987	0.0:0.0:1.0:0.0	.	182	Q9NZ56	FMN2_HUMAN	Y	182	ENSP00000318884:D182Y	ENSP00000318884:D182Y	D	+	1	0	FMN2	238322576	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	8.830000	0.92063	2.125000	0.65367	0.313000	0.20887	GAC		0.632	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		5	74	1	0	0.014758	1	0.0154462	5	74				
HECW2	57520	broad.mit.edu	37	2	197208390	197208390	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:197208390A>C	ENST00000260983.3	-	3	573	c.391T>G	c.(391-393)Ttc>Gtc	p.F131V	HECW2_ENST00000409111.1_De_novo_Start_OutOfFrame	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	131					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CGTTCCATGAAATAGGGCCCA	0.363																																						ENST00000409111.1																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113								HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							172.0	189.0	184.0					2																	197208390		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197208390A>C	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.391T>G	2.37:g.197208390A>C	ENSP00000260983:p.Phe131Val					HECW2_ENST00000260983.2_Missense_Mutation_p.F131V				Q9P2P5	HECW2_HUMAN			0	509	-								B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Translation_Start_Site	SNP	ENST00000260983.3	37		CCDS33354.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027165	0.75390	.	.	ENSG00000138411	ENST00000260983;ENST00000452031	T	0.63580	-0.05	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.78641	0.4315	M	0.72894	2.215	0.58432	D	0.999999	D	0.76494	0.999	D	0.87578	0.998	T	0.80772	-0.1233	10	0.87932	D	0	.	15.5919	0.76537	1.0:0.0:0.0:0.0	.	131	Q9P2P5	HECW2_HUMAN	V	131	ENSP00000260983:F131V	ENSP00000260983:F131V	F	-	1	0	HECW2	196916635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.972000	0.93424	2.324000	0.78689	0.533000	0.62120	TTC		0.363	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		14	182	0	0	0	1	0	14	182				
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304613	66304613	+	RNA	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:66304613G>T	ENST00000457166.1	-	0	192					NR_003934.1				GTF2I repeat domain containing 1 pseusogene 1																		GGTTGGTGACGGGTCTGAAGA	0.532																																						ENST00000457166.1																			0																																																			729156							g.chr7:66304613G>T			7q11.21	2012-06-29			ENSG00000230583	ENSG00000230583			44136	pseudogene	pseudogene							Standard	NR_003934		Approved		uc003tvj.1		OTTHUMG00000156927		7.37:g.66304613G>T								NR_003934.1						0	192	-									RNA	SNP	ENST00000457166.1	37																																																																																						0.532	GTF2IRD1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346561.1	NR_003934		7	28	1	0	0.0293803	1	0.0303184	7	28				
ZNF33A	7581	broad.mit.edu	37	10	38344245	38344245	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:38344245C>A	ENST00000458705.2	+	5	1348	c.1190C>A	c.(1189-1191)tCa>tAa	p.S397*	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Nonsense_Mutation_p.S404*|ZNF33A_ENST00000374618.3_Nonsense_Mutation_p.S398*|ZNF33A_ENST00000307441.9_Nonsense_Mutation_p.S397*			Q06730	ZN33A_HUMAN	zinc finger protein 33A	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AGCCATAAGTCAGCCCTCACA	0.423																																						ENST00000374618.3																			0				cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						c.(1192-1194)tCa>tAa		zinc finger protein 33A							84.0	86.0	86.0					10																	38344245		2203	4297	6500	SO:0001587	stop_gained	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38344245C>A	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1190C>A	10.37:g.38344245C>A	ENSP00000387713:p.Ser397*					ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Nonsense_Mutation_p.S397*|ZNF33A_ENST00000432900.2_Nonsense_Mutation_p.S404*|ZNF33A_ENST00000458705.2_Nonsense_Mutation_p.S397*	p.S398*	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN			5	1371	+			397					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Nonsense_Mutation	SNP	ENST00000458705.2	37	c.1193C>A	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861717	0.71949	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	.	.	.	2.34	1.39	0.22231	.	0.738763	0.10678	N	0.646695	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.5647	0.22505	0.0:0.8366:0.0:0.1634	.	.	.	.	X	398;404;397;397	.	ENSP00000304268:S397X	S	+	2	0	ZNF33A	38384251	0.000000	0.05858	0.990000	0.47175	0.968000	0.65278	-0.165000	0.09968	0.291000	0.22468	0.460000	0.39030	TCA		0.423	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		6	55	1	0	8.12818e-05	1	9.40913e-05	6	55				
NMRK2	27231	broad.mit.edu	37	19	3938600	3938600	+	Splice_Site	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:3938600G>C	ENST00000168977.2	+	5	456		c.e5-1		NMRK2_ENST00000593949.1_Splice_Site|NMRK2_ENST00000599576.1_Splice_Site	NM_170678.2	NP_733778.1	Q9NPI5	NRK2_HUMAN	nicotinamide riboside kinase 2						NAD biosynthetic process (GO:0009435)|negative regulation of myoblast differentiation (GO:0045662)	intracellular (GO:0005622)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										CCTTTCCCCAGTGCTGGAGTC	0.682																																						ENST00000168977.2																			0											c.e5-1		nicotinamide riboside kinase 2							37.0	31.0	33.0					19																	3938600		2202	4300	6502	SO:0001630	splice_region_variant	27231							g.chr19:3938600G>C	AF190819	CCDS12115.1, CCDS74259.1	19p13.3	2013-10-28	2012-05-31	2012-05-31	ENSG00000077009	ENSG00000077009			17871	protein-coding gene	gene with protein product	"""muscle-specific beta 1 integrin binding protein"", ""nicotinamide riboside kinase 2"""	608705	"""integrin beta 1 binding protein 3"""	ITGB1BP3		10613898, 15137942	Standard	NM_170678		Approved	MIBP, NRK2	uc002lyz.4	Q9NPI5	OTTHUMG00000181758	ENST00000168977.2:c.167-1G>C	19.37:g.3938600G>C						NMRK2_ENST00000593949.1_Splice_Site|NMRK2_ENST00000599576.1_Splice_Site		NM_170678.2	NP_733778.1					5	456	+								B7ZKR3|Q52M81|Q9NZK3	Splice_Site	SNP	ENST00000168977.2	37		CCDS12115.1	.	.	.	.	.	.	.	.	.	.	G	8.757	0.922719	0.18056	.	.	ENSG00000077009	ENST00000168977;ENST00000395034	.	.	.	3.5	3.5	0.40072	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3697	0.44046	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGB1BP3	3889600	1.000000	0.71417	0.752000	0.31206	0.041000	0.13682	7.582000	0.82546	1.795000	0.52594	0.491000	0.48974	.		0.682	NMRK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457492.1	NM_014446, NM_170678	Intron	6	24	0	0	0	1	0	6	24				
KLK15	55554	broad.mit.edu	37	19	51330362	51330362	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:51330362G>T	ENST00000598239.1	-	3	283	c.253C>A	c.(253-255)Caa>Aaa	p.Q85K	KLK15_ENST00000326856.4_Missense_Mutation_p.Q84K|KLK15_ENST00000301421.2_Missense_Mutation_p.Q85K|KLK15_ENST00000416184.1_Missense_Mutation_p.Q85K|KLK15_ENST00000596931.1_Missense_Mutation_p.Q84K	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	85	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GTCCGTAGTTGCTCTGGGCCA	0.652																																					Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(250-252)Caa>Aaa		kallikrein-related peptidase 15							82.0	70.0	74.0					19																	51330362		2203	4300	6503	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330362G>T	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.253C>A	19.37:g.51330362G>T	ENSP00000469315:p.Gln85Lys					KLK15_ENST00000598239.1_Missense_Mutation_p.Q85K|KLK15_ENST00000596931.1_Missense_Mutation_p.Q84K|KLK15_ENST00000416184.1_Missense_Mutation_p.Q85K|KLK15_ENST00000301421.2_Missense_Mutation_p.Q85K	p.Q84K	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	4	379	-		all_neural(266;0.057)	85			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.250C>A	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	g	34	5.372256	0.95923	.	.	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D	0.90069	-2.61;-2.61	4.51	3.46	0.39613	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.159044	0.29328	N	0.012463	D	0.93307	0.7867	M	0.76002	2.32	0.35736	D	0.818277	D;P;D;P	0.89917	0.995;0.932;1.0;0.688	D;P;D;P	0.76071	0.957;0.612;0.987;0.491	D	0.95631	0.8689	10	0.87932	D	0	.	12.6312	0.56659	0.0:0.1681:0.8319:0.0	.	85;84;85;85	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	K	85	ENSP00000415136:Q85K;ENSP00000301421:Q85K	ENSP00000301421:Q85K	Q	-	1	0	KLK15	56022174	1.000000	0.71417	0.049000	0.19019	0.767000	0.43475	7.147000	0.77382	1.250000	0.43966	0.561000	0.74099	CAA		0.652	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		8	86	1	0	0.000673444	1	0.000750542	8	86				
PATE2	399967	broad.mit.edu	37	11	125647292	125647292	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:125647292G>A	ENST00000358524.3	-	4	372	c.327C>T	c.(325-327)ctC>ctT	p.L109L	PATE2_ENST00000436890.2_Silent_p.L66L	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN	prostate and testis expressed 2	109						extracellular space (GO:0005615)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						CTCCCTCAGGGAGGTTGCAGT	0.458																																						ENST00000358524.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						c.(325-327)ctC>ctT		prostate and testis expressed 2							135.0	109.0	118.0					11																	125647292		2201	4299	6500	SO:0001819	synonymous_variant	399967					extracellular space		g.chr11:125647292G>A	AY358105	CCDS8465.1	11q24.2	2008-12-17	2008-12-17	2008-12-17		ENSG00000196844		"""PATE family"""	32249	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 38"""	C11orf38			Standard	NM_212555		Approved	UNQ3112, LVLF3112, PATE-M	uc001qcu.3	Q6UY27		ENST00000358524.3:c.327C>T	11.37:g.125647292G>A						PATE2_ENST00000436890.2_Silent_p.L66L	p.L109L	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN			4	372	-			109					B2RNZ2|B7ZMG4	Silent	SNP	ENST00000358524.3	37	c.327C>T	CCDS8465.1																																																																																				0.458	PATE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386729.1	NM_212555		11	52	0	0	0	1	0	11	52				
HMCN1	83872	broad.mit.edu	37	1	186062643	186062643	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:186062643A>C	ENST00000271588.4	+	66	10267	c.10038A>C	c.(10036-10038)aaA>aaC	p.K3346N	HMCN1_ENST00000367492.2_Missense_Mutation_p.K3346N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3346	Ig-like C2-type 32.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGGGTAATAAAGATGAAGCAG	0.378																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(10036-10038)aaA>aaC		hemicentin 1							81.0	93.0	89.0					1																	186062643		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186062643A>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10038A>C	1.37:g.186062643A>C	ENSP00000271588:p.Lys3346Asn					HMCN1_ENST00000367492.2_Missense_Mutation_p.K3346N	p.K3346N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			66	10267	+			3346			Ig-like C2-type 32.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.10038A>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.776485	0.31411	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65916	-0.17;-0.18	5.28	2.53	0.30540	Immunoglobulin-like (1);	0.272836	0.47455	D	0.000224	T	0.47135	0.1429	N	0.25647	0.755	0.30284	N	0.791077	P	0.41131	0.739	B	0.42959	0.403	T	0.44892	-0.9298	10	0.17369	T	0.5	.	9.9328	0.41532	0.7809:0.0:0.2191:0.0	.	3346	Q96RW7	HMCN1_HUMAN	N	3346	ENSP00000271588:K3346N;ENSP00000356462:K3346N	ENSP00000271588:K3346N	K	+	3	2	HMCN1	184329266	0.956000	0.32656	0.945000	0.38365	0.706000	0.40770	0.344000	0.19962	0.807000	0.34208	0.477000	0.44152	AAA		0.378	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		13	114	0	0	0	1	0	13	114				
MSANTD2	79684	broad.mit.edu	37	11	124670188	124670188	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:124670188C>A	ENST00000374979.3	-	1	97	c.89G>T	c.(88-90)gGc>gTc	p.G30V	MSANTD2_ENST00000524950.1_Missense_Mutation_p.G30V|MSANTD2_ENST00000239614.4_Missense_Mutation_p.G30V|RP11-677M14.7_ENST00000499143.2_RNA|RP11-677M14.7_ENST00000529392.1_RNA			Q6P1R3	MSD2_HUMAN	Myb/SANT-like DNA-binding domain containing 2	30	Gly-rich.																GTCGCTCAGGCCACCAGGAGA	0.697																																						ENST00000239614.4																			0											c.(88-90)gGc>gTc		Myb/SANT-like DNA-binding domain containing 2							9.0	11.0	11.0					11																	124670188		2129	4163	6292	SO:0001583	missense	79684							g.chr11:124670188C>A	AK026995	CCDS8454.1, CCDS73408.1	11q24.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000120458	ENSG00000120458			26266	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 61"""	C11orf61			Standard	NM_024631		Approved	FLJ23342	uc001qaz.1	Q6P1R3	OTTHUMG00000165931	ENST00000374979.3:c.89G>T	11.37:g.124670188C>A	ENSP00000364118:p.Gly30Val					MSANTD2_ENST00000374979.3_Missense_Mutation_p.G30V|MSANTD2_ENST00000524950.1_Missense_Mutation_p.G30V	p.G30V	NM_024631.2	NP_078907.2	Q6P1R3	CK061_HUMAN			1	381	-			30			Gly-rich.		B3KRY6|Q9H042|Q9H5K8	Missense_Mutation	SNP	ENST00000374979.3	37	c.89G>T		.	.	.	.	.	.	.	.	.	.	C	19.27	3.795926	0.70452	.	.	ENSG00000120458	ENST00000239614;ENST00000374979;ENST00000524950	.	.	.	4.52	3.59	0.41128	.	0.340769	0.27056	N	0.021147	T	0.26521	0.0648	N	0.08118	0	0.48236	D	0.999619	P;P	0.47677	0.838;0.899	B;B	0.39258	0.11;0.295	T	0.13980	-1.0489	9	0.72032	D	0.01	-1.8577	11.2613	0.49085	0.0:0.9071:0.0:0.0929	.	30;30	Q6P1R3;Q6P1R3-3	CK061_HUMAN;.	V	30	.	ENSP00000239614:G30V	G	-	2	0	C11orf61	124175398	0.993000	0.37304	0.988000	0.46212	0.990000	0.78478	1.405000	0.34635	0.864000	0.35578	0.462000	0.41574	GGC		0.697	MSANTD2-002	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000387084.1	NM_024631		4	16	1	0	1.024e-07	1	1.34974e-07	4	16				
MAGEE1	57692	broad.mit.edu	37	X	75650600	75650600	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:75650600G>T	ENST00000361470.2	+	1	2555	c.2277G>T	c.(2275-2277)atG>atT	p.M759I		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	759	Interaction with DTNA. {ECO:0000250}.|MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TTCTGCTTATGGATTCAACTA	0.478																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(2275-2277)atG>atT		melanoma antigen family E, 1							79.0	70.0	73.0					X																	75650600		2203	4300	6503	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75650600G>T	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2277G>T	X.37:g.75650600G>T	ENSP00000354912:p.Met759Ile						p.M759I	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	2555	+			759			Interaction with DTNA (By similarity).|MAGE 2.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.2277G>T	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	.	9.561	1.118374	0.20877	.	.	ENSG00000198934	ENST00000361470	T	0.04603	3.59	2.52	1.5	0.22942	.	.	.	.	.	T	0.04634	0.0126	L	0.29908	0.895	0.09310	N	1	B	0.24618	0.107	B	0.33295	0.161	T	0.43261	-0.9402	9	0.66056	D	0.02	.	3.877	0.09061	0.2728:0.0:0.7272:0.0	.	759	Q9HCI5	MAGE1_HUMAN	I	759	ENSP00000354912:M759I	ENSP00000354912:M759I	M	+	3	0	MAGEE1	75567004	1.000000	0.71417	0.147000	0.22382	0.997000	0.91878	0.950000	0.29122	0.365000	0.24400	0.600000	0.82982	ATG		0.478	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		18	42	1	0	9.16793e-09	1	1.24709e-08	18	42				
CEP112	201134	broad.mit.edu	37	17	64059127	64059127	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:64059127A>G	ENST00000392769.2	-	11	1246	c.1028T>C	c.(1027-1029)aTa>aCa	p.I343T	CEP112_ENST00000537949.1_Missense_Mutation_p.I301T|CEP112_ENST00000535342.2_Missense_Mutation_p.I343T|CEP112_ENST00000541355.1_5'UTR	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	343					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TTGTTCACATATCTTTTTCAG	0.323																																						ENST00000392769.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						c.(1027-1029)aTa>aCa		centrosomal protein 112kDa							130.0	119.0	123.0					17																	64059127		2201	4297	6498	SO:0001583	missense	201134					centrosome		g.chr17:64059127A>G	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.1028T>C	17.37:g.64059127A>G	ENSP00000376522:p.Ile343Thr					CEP112_ENST00000541355.1_5'UTR|CEP112_ENST00000535342.2_Missense_Mutation_p.I343T|CEP112_ENST00000537949.1_Missense_Mutation_p.I301T	p.I343T	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN			11	1246	-			343					Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	c.1028T>C	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.430621	0.43122	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000537949	T;T;T	0.48836	0.81;0.81;0.8	5.45	5.45	0.79879	.	0.237138	0.41396	D	0.000889	T	0.37376	0.1001	L	0.36672	1.1	0.80722	D	1	B;B;B	0.30361	0.277;0.006;0.277	B;B;B	0.29942	0.109;0.013;0.109	T	0.16482	-1.0401	10	0.14252	T	0.57	-6.7147	14.4912	0.67651	1.0:0.0:0.0:0.0	.	301;301;343	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	T	343;343;301	ENSP00000442784:I343T;ENSP00000376522:I343T;ENSP00000440775:I301T	ENSP00000376522:I343T	I	-	2	0	CEP112	61489589	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	6.234000	0.72326	2.049000	0.60858	0.477000	0.44152	ATA		0.323	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		8	29	0	0	0	1	0	8	29				
MAGEC1	9947	broad.mit.edu	37	X	140996140	140996140	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:140996140T>A	ENST00000285879.4	+	4	3236	c.2950T>A	c.(2950-2952)Tct>Act	p.S984T	MAGEC1_ENST00000406005.2_Missense_Mutation_p.S51T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	984	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGACCTCACCTCTGAGGGGTG	0.478										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(2950-2952)Tct>Act		melanoma antigen family C, 1							114.0	108.0	110.0					X																	140996140		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140996140T>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2950T>A	X.37:g.140996140T>A	ENSP00000285879:p.Ser984Thr	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Missense_Mutation_p.S51T	p.S984T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	3236	+	Acute lymphoblastic leukemia(192;6.56e-05)		984			MAGE.		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2950T>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	t	2.086	-0.409478	0.04799	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.04862	3.54;3.54	0.837	0.837	0.18896	.	.	.	.	.	T	0.03305	0.0096	N	0.11818	0.18	0.09310	N	1	P	0.36048	0.534	B	0.32864	0.154	T	0.44922	-0.9296	8	0.36615	T	0.2	.	.	.	.	.	984	O60732	MAGC1_HUMAN	T	984;51	ENSP00000285879:S984T;ENSP00000385500:S51T	ENSP00000285879:S984T	S	+	1	0	MAGEC1	140823806	0.001000	0.12720	0.022000	0.16811	0.011000	0.07611	0.319000	0.19522	0.575000	0.29434	0.231000	0.17811	TCT		0.478	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		23	85	0	0	0	1	0	23	85				
MYO9B	4650	broad.mit.edu	37	19	17283670	17283670	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:17283670G>T	ENST00000594824.1	+	13	2185	c.2038G>T	c.(2038-2040)Gtg>Ttg	p.V680L	MYO9B_ENST00000397274.2_Missense_Mutation_p.V680L|MYO9B_ENST00000595618.1_Missense_Mutation_p.V680L			Q13459	MYO9B_HUMAN	myosin IXB	680	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CATGGACCCCGTGGCCGTGTT	0.687																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(2038-2040)Gtg>Ttg		myosin IXB							44.0	52.0	50.0					19																	17283670		2104	4211	6315	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17283670G>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.2038G>T	19.37:g.17283670G>T	ENSP00000471367:p.Val680Leu					MYO9B_ENST00000594824.1_Missense_Mutation_p.V680L|MYO9B_ENST00000397274.2_Missense_Mutation_p.V680L	p.V680L	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			13	2190	+			680			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.2038G>T		.	.	.	.	.	.	.	.	.	.	G	25.4	4.633659	0.87660	.	.	ENSG00000099331	ENST00000397274	D	0.86164	-2.08	4.51	4.51	0.55191	Myosin head, motor domain (2);	0.000000	0.49916	D	0.000139	D	0.90693	0.7080	L	0.42487	1.325	0.52099	D	0.999942	D;D;D	0.89917	0.99;0.99;1.0	D;D;D	0.80764	0.961;0.961;0.994	D	0.91849	0.5490	10	0.72032	D	0.01	.	16.166	0.81757	0.0:0.0:1.0:0.0	.	680;680;686	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	L	680	ENSP00000380444:V680L	ENSP00000380444:V680L	V	+	1	0	MYO9B	17144670	1.000000	0.71417	0.923000	0.36655	0.587000	0.36485	9.672000	0.98629	2.218000	0.71995	0.655000	0.94253	GTG		0.687	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			11	57	1	0	3.07112e-06	1	3.81764e-06	11	57				
NPAP1	23742	broad.mit.edu	37	15	24921062	24921062	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:24921062C>A	ENST00000329468.2	+	1	522	c.48C>A	c.(46-48)ccC>ccA	p.P16P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	16					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GCCGCCGGCCCCTGCCAGGGC	0.672																																						ENST00000329468.2																			0											c.(46-48)ccC>ccA		nuclear pore associated protein 1							6.0	8.0	7.0					15																	24921062		1790	3800	5590	SO:0001819	synonymous_variant	23742							g.chr15:24921062C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.48C>A	15.37:g.24921062C>A							p.P16P	NM_018958.2	NP_061831.2					1	522	+									Silent	SNP	ENST00000329468.2	37	c.48C>A	CCDS10015.1																																																																																				0.672	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		4	11	1	0	0.00024832	1	0.000283794	4	11				
CSMD3	114788	broad.mit.edu	37	8	113318349	113318349	+	Missense_Mutation	SNP	C	C	A	rs143305992		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:113318349C>A	ENST00000297405.5	-	51	8202	c.7958G>T	c.(7957-7959)cGa>cTa	p.R2653L	CSMD3_ENST00000352409.3_Missense_Mutation_p.R2583L|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2549L|CSMD3_ENST00000343508.3_Missense_Mutation_p.R2613L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2653	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAGGTAACTCGCGTTCCTAC	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(7957-7959)cGa>cTa		CUB and Sushi multiple domains 3							161.0	144.0	150.0					8																	113318349		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113318349C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7958G>T	8.37:g.113318349C>A	ENSP00000297405:p.Arg2653Leu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.R2613L|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2549L|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2583L	p.R2653L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			51	8202	-			2653			Sushi 15.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7958G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106815	0.77096	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	5.53	5.53	0.82687	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000013	T	0.72439	0.3460	L	0.55834	1.745	0.42293	D	0.992142	D;P;D	0.64830	0.968;0.953;0.994	P;D;D	0.65684	0.869;0.911;0.937	T	0.65372	-0.6184	10	0.07990	T	0.79	.	19.4468	0.94851	0.0:1.0:0.0:0.0	.	2549;2653;2613	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	2613;2653;1923;2549;2583	ENSP00000345799:R2613L;ENSP00000297405:R2653L;ENSP00000341558:R1923L;ENSP00000412263:R2549L;ENSP00000343124:R2583L	ENSP00000297405:R2653L	R	-	2	0	CSMD3	113387525	0.973000	0.33851	0.992000	0.48379	0.377000	0.30045	3.407000	0.52644	2.591000	0.87537	0.557000	0.71058	CGA		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		17	61	1	0	1.15088e-07	1	1.50471e-07	17	61				
FCRL3	115352	broad.mit.edu	37	1	157665964	157665964	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:157665964C>A	ENST00000368184.3	-	7	1289	c.998G>T	c.(997-999)aGa>aTa	p.R333I	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.R333I	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	333	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CTGGGTCTTTCTACCCAGGCT	0.502																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(997-999)aGa>aTa		Fc receptor-like 3							129.0	117.0	121.0					1																	157665964		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157665964C>A	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.998G>T	1.37:g.157665964C>A	ENSP00000357167:p.Arg333Ile					FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.R333I|RP11-367J7.3_ENST00000453692.1_RNA	p.R333I	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			7	1289	-	all_hematologic(112;0.0378)		333			Ig-like C2-type 4.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.998G>T	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309340	0.40895	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	D;D	0.83992	-1.79;-1.79	5.35	-7.91	0.01165	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63977	0.2557	M	0.84585	2.705	0.09310	N	1	B;B;B	0.33549	0.199;0.417;0.104	B;B;B	0.37943	0.06;0.261;0.036	T	0.55566	-0.8121	9	0.30078	T	0.28	.	0.9011	0.01274	0.1837:0.3036:0.2332:0.2795	.	333;238;333	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	I	333	ENSP00000357169:R333I;ENSP00000357167:R333I	ENSP00000292392:R333I	R	-	2	0	FCRL3	155932588	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.380000	0.02551	-1.484000	0.01856	-0.182000	0.12963	AGA		0.502	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		11	81	1	0	9.70103e-10	1	1.37516e-09	11	81				
PIK3CG	5294	broad.mit.edu	37	7	106545637	106545637	+	Silent	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:106545637A>C	ENST00000359195.3	+	11	3424	c.3114A>C	c.(3112-3114)ggA>ggC	p.G1038G	PIK3CG_ENST00000440650.2_Silent_p.G1038G|PIK3CG_ENST00000496166.1_Silent_p.G1038G	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	1038	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGATGACAGGAATGCCCCAGT	0.423																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(3112-3114)ggA>ggC		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							156.0	150.0	152.0					7																	106545637		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106545637A>C		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.3114A>C	7.37:g.106545637A>C						PIK3CG_ENST00000496166.1_Silent_p.G1038G|PIK3CG_ENST00000440650.2_Silent_p.G1038G	p.G1038G	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			11	3424	+			1038			PI3K/PI4K.		A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.3114A>C	CCDS5739.1																																																																																				0.423	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			20	113	0	0	0	1	0	20	113				
TRBV5-6	28609	broad.mit.edu	37	7	142131464	142131464	+	RNA	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:142131464C>A	ENST00000390375.2	-	0	331									T cell receptor beta variable 5-6																		ACAAGGCGTTCACATTCAGCT	0.493																																						ENST00000390375.2																			0																				110.0	109.0	109.0					7																	142131464		1924	4133	6057			28609							g.chr7:142131464C>A	L36092		7q34	2012-02-07			ENSG00000211728	ENSG00000211728		"""T cell receptors / TRB locus"""	12223	other	T cell receptor gene	"""T-cell receptor beta chain V region CTL-L17 -like"""					8650574	Standard	NG_001333		Approved	TRBV56, TCRBV5S2, TCRBV5S6			OTTHUMG00000158873		7.37:g.142131464C>A														0	331	-									RNA	SNP	ENST00000390375.2	37																																																																																						0.493	TRBV5-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352481.1	NG_001333		10	98	1	0	3.86212e-05	1	4.52916e-05	10	98				
CALM2	805	broad.mit.edu	37	2	47389768	47389768	+	Missense_Mutation	SNP	T	T	C	rs11551457		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:47389768T>C	ENST00000272298.7	-	3	225	c.68A>G	c.(67-69)gAt>gGt	p.D23G	RP11-761B3.1_ENST00000422269.1_Intron|CALM2_ENST00000484408.1_5'UTR|CALM2_ENST00000409563.1_Missense_Mutation_p.D70G	NM_001743.4	NP_001734.1	P62158	CALM_HUMAN	calmodulin 2 (phosphorylase kinase, delta)	23	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)	p.0?(2)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	TCCATCACCATCTTTGTCAAA	0.338																																						ENST00000272298.7																			2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(67-69)gAt>gGt		calmodulin 2 (phosphorylase kinase, delta)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)						88.0	84.0	86.0					2																	47389768		2203	4300	6503	SO:0001583	missense	805				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	g.chr2:47389768T>C		CCDS1832.1	2p21.3-p21.1	2013-02-25			ENSG00000143933	ENSG00000143933		"""EF-hand domain containing"", ""Endogenous ligands"""	1445	protein-coding gene	gene with protein product	"""prepro-calmodulin 2"""	114182					Standard	NM_001743		Approved	PHKD, CAMII	uc002rvt.2	P62158	OTTHUMG00000128850	ENST00000272298.7:c.68A>G	2.37:g.47389768T>C	ENSP00000272298:p.Asp23Gly					CALM2_ENST00000422269.1_Intron|CALM2_ENST00000409563.1_Missense_Mutation_p.D70G	p.D23G	NM_001743.4	NP_001734.1	P62158	CALM_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		3	225	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	23			EF-hand 1.		P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	ENST00000272298.7	37	c.68A>G	CCDS1832.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.815884	0.70912	.	.	ENSG00000143933	ENST00000272298;ENST00000456319;ENST00000409563	T;T;T	0.78364	-1.17;-1.17;-1.17	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.86180	0.5871	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.87634	0.2518	7	0.87932	D	0	.	16.0915	0.81094	0.0:0.0:0.0:1.0	rs11551457	.	.	.	G	23;61;70	ENSP00000272298:D23G;ENSP00000411440:D61G;ENSP00000387065:D70G	ENSP00000272298:D23G	D	-	2	0	CALM2	47243272	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.003000	0.88520	2.283000	0.76528	0.533000	0.62120	GAT		0.338	CALM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250789.3	NM_001743		9	56	0	0	0	1	0	9	56				
HIVEP3	59269	broad.mit.edu	37	1	42048654	42048654	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:42048654delC	ENST00000372583.1	-	4	2700	c.1815delG	c.(1813-1815)gagfs	p.E605fs	HIVEP3_ENST00000372584.1_Frame_Shift_Del_p.E605fs|HIVEP3_ENST00000429157.2_Frame_Shift_Del_p.E605fs|HIVEP3_ENST00000247584.5_Frame_Shift_Del_p.E605fs	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	605	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TTGGGCCAGGCTCCTCAGAAC	0.552																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(1813-1815)gafs		human immunodeficiency virus type I enhancer binding protein 3							82.0	80.0	81.0					1																	42048654		2203	4300	6503	SO:0001589	frameshift_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42048654delC	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1815delG	1.37:g.42048654delC	ENSP00000361664:p.Glu605fs					HIVEP3_ENST00000429157.2_Frame_Shift_Del_p.E605fs|HIVEP3_ENST00000372583.1_Frame_Shift_Del_p.E605fs|HIVEP3_ENST00000247584.5_Frame_Shift_Del_p.E605fs	p.E605fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	2829	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	605			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Frame_Shift_Del	DEL	ENST00000372583.1	37	c.1815delG	CCDS463.1																																																																																				0.552	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		20	101						20	101	---	---	---	---
CD46	4179	broad.mit.edu	37	1	207963626	207963627	+	Frame_Shift_Ins	INS	-	-	AAGT	rs138502920		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:207963626_207963627insAAGT	ENST00000358170.2	+	13	1312_1313	c.1156_1157insAAGT	c.(1156-1158)gaafs	p.-387fs	CD46_ENST00000322875.4_Intron|CD46_ENST00000367047.1_Intron|CD46_ENST00000322918.5_Intron|CD46_ENST00000360212.2_Intron|CD46_ENST00000367042.1_Frame_Shift_Ins_p.-372fs|CD46_ENST00000354848.1_Intron|CD46_ENST00000367041.1_Frame_Shift_Ins_p.-357fs|CD46_ENST00000357714.1_Intron|CD46_ENST00000480003.1_Intron|CD46_ENST00000361067.1_Intron|CD46_ENST00000441839.2_Intron|CD46_ENST00000469535.1_Intron	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein						adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GACCCACAGAGAAGTAAAATTT	0.351																																						ENST00000358170.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						c.(1156-1158)agtfs		CD46 molecule, complement regulatory protein																																				SO:0001589	frameshift_variant	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207963626_207963627insAAGT	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.1157_1160dupAAGT	1.37:g.207963627_207963630dupAAGT	ENSP00000350893:p.Val387fs					CD46_ENST00000441839.2_Intron|CD46_ENST00000322875.4_Intron|CD46_ENST00000469535.1_Intron|CD46_ENST00000354848.1_Intron|CD46_ENST00000367041.1_Frame_Shift_Ins_p.S356fs|CD46_ENST00000357714.1_Intron|CD46_ENST00000360212.2_Intron|CD46_ENST00000361067.1_Intron|CD46_ENST00000480003.1_Intron|CD46_ENST00000367042.1_Frame_Shift_Ins_p.S371fs|CD46_ENST00000367047.1_Intron|CD46_ENST00000322918.5_Intron	p.S386fs	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN			13	1312_1313	+			386					A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Frame_Shift_Ins	INS	ENST00000358170.2	37	c.1156_1157insAAGT	CCDS1485.1																																																																																				0.351	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361		7	55						7	55	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232619601	232619624	+	In_Frame_Del	DEL	GATCAAGGAATTCTTCAAAAGCTG	GATCAAGGAATTCTTCAAAAGCTG	-	rs552340506		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:232619601_232619624delGATCAAGGAATTCTTCAAAAGCTG	ENST00000366630.1	-	5	2253_2276	c.1895_1918delCAGCTTTTGAAGAATTCCTTGATC	c.(1894-1920)ccagcttttgaagaattccttgatctt>ctt	p.PAFEEFLD632del	SIPA1L2_ENST00000262861.4_In_Frame_Del_p.PAFEEFLD632del			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	632	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGGCCCAGAAGATCAAGGAATTCTTCAAAAGCTGGTCCCGCCGT	0.433																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(1894-1920)ctt>c		signal-induced proliferation-associated 1 like 2																																				SO:0001651	inframe_deletion	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232619601_232619624delGATCAAGGAATTCTTCAAAAGCTG	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1895_1918delCAGCTTTTGAAGAATTCCTTGATC	1.37:g.232619601_232619624delGATCAAGGAATTCTTCAAAAGCTG	ENSP00000355589:p.Pro632_Asp639del					SIPA1L2_ENST00000262861.4_In_Frame_Del_p.PAFEEFLDL632del	p.PAFEEFLDL632del			Q9P2F8	SI1L2_HUMAN			5	2253_2276	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	632			Rap-GAP.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	In_Frame_Del	DEL	ENST00000366630.1	37	c.1895_1918delCAGCTTTTGAAGAATTCCTTGATC	CCDS41474.1																																																																																				0.433	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		7	84						7	84	---	---	---	---
MERTK	10461	broad.mit.edu	37	2	112786315	112786315	+	Frame_Shift_Del	DEL	G	G	-	rs144406499	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:112786315delG	ENST00000295408.4	+	19	3131	c.2874delG	c.(2872-2874)ccgfs	p.P958fs	MERTK_ENST00000421804.2_Frame_Shift_Del_p.P958fs|MERTK_ENST00000409780.1_Frame_Shift_Del_p.P782fs			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	958			P -> L (found in a patient with Leber congenital amaurosis; dbSNP:rs201460398). {ECO:0000269|PubMed:21602930}.		apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTGTTTTACCGGGGGAGAGAC	0.527																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(2872-2874)ccfs		c-mer proto-oncogene tyrosine kinase							46.0	42.0	43.0					2																	112786315		2203	4300	6503	SO:0001589	frameshift_variant	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112786315delG	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2874delG	2.37:g.112786315delG	ENSP00000295408:p.Pro958fs					MERTK_ENST00000421804.2_Frame_Shift_Del_p.P958fs|MERTK_ENST00000409780.1_Frame_Shift_Del_p.P782fs	p.P958fs			Q12866	MERTK_HUMAN			19	3131	+			958					Q9HBB4	Frame_Shift_Del	DEL	ENST00000295408.4	37	c.2874delG	CCDS2094.1																																																																																				0.527	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			7	65						7	65	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163374654	163374655	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:163374654_163374655insC	ENST00000332142.5	-	4	576_577	c.477_478insG	c.(475-480)gggttcfs	p.F160fs	KCNH7_ENST00000328032.4_Frame_Shift_Ins_p.F160fs|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	160					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GGGAATTTGAACCCAAAAAATT	0.376																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(475-480)ggtcaafs		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)																																			SO:0001589	frameshift_variant	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163374654_163374655insC	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.478dupG	2.37:g.163374657_163374657dupC	ENSP00000331727:p.Phe160fs					KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Frame_Shift_Ins_p.Q160fs	p.Q160fs	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			4	576_577	-			160					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Frame_Shift_Ins	INS	ENST00000332142.5	37	c.477_478insG	CCDS2219.1																																																																																				0.376	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		9	65						9	65	---	---	---	---
GABRA2	2555	broad.mit.edu	37	4	46252503	46252504	+	Frame_Shift_Ins	INS	-	-	T	rs200801680		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:46252503_46252504insT	ENST00000510861.1	-	10	1350_1351	c.1177_1178insA	c.(1177-1179)acgfs	p.T393fs	GABRA2_ENST00000507069.1_Frame_Shift_Ins_p.T453fs|GABRA2_ENST00000514090.1_Frame_Shift_Ins_p.T393fs|GABRA2_ENST00000540012.1_Frame_Shift_Ins_p.T398fs|GABRA2_ENST00000356504.1_Frame_Shift_Ins_p.T393fs|GABRA2_ENST00000381620.4_Frame_Shift_Ins_p.T393fs			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	393					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.T393M(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	GGGTTCTGGCGTGGTTGCACTC	0.431																																						ENST00000510861.1																			1	Substitution - Missense(1)	p.T393M(1)	large_intestine(1)	NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(1177-1179)gccfs		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)																																			SO:0001589	frameshift_variant	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46252503_46252504insT		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1178dupA	4.37:g.46252504_46252504dupT	ENSP00000421828:p.Thr393fs					GABRA2_ENST00000356504.1_Frame_Shift_Ins_p.A393fs|GABRA2_ENST00000514090.1_Frame_Shift_Ins_p.A393fs|GABRA2_ENST00000507069.1_Frame_Shift_Ins_p.A453fs|GABRA2_ENST00000381620.4_Frame_Shift_Ins_p.A393fs|GABRA2_ENST00000540012.1_Frame_Shift_Ins_p.A398fs	p.A393fs			P47869	GBRA2_HUMAN			10	1350_1351	-			393					A8K0U7|B7Z1H8|Q59G14	Frame_Shift_Ins	INS	ENST00000510861.1	37	c.1177_1178insA	CCDS3471.1																																																																																				0.431	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			27	154						27	154	---	---	---	---
FGG	2266	broad.mit.edu	37	4	155526059	155526059	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:155526059delC	ENST00000336098.3	-	9	1327	c.1289delG	c.(1288-1290)ggafs	p.G430fs	FGG_ENST00000405164.1_Frame_Shift_Del_p.G438fs|FGG_ENST00000404648.3_Frame_Shift_Del_p.G430fs|FGG_ENST00000407946.1_Frame_Shift_Del_p.G438fs	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	430	Platelet aggregation and Staphylococcus clumping.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTGTTTGGCTCCCCCCAGGTG	0.448																																						ENST00000404648.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1288-1290)gafs		fibrinogen gamma chain	Sucralfate(DB00364)						192.0	183.0	186.0					4																	155526059		2203	4300	6503	SO:0001589	frameshift_variant	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155526059delC		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.1289delG	4.37:g.155526059delC	ENSP00000336829:p.Gly430fs					FGG_ENST00000336098.3_Frame_Shift_Del_p.G430fs|FGG_ENST00000407946.1_Frame_Shift_Del_p.G438fs|FGG_ENST00000405164.1_Frame_Shift_Del_p.G438fs	p.G430fs	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN			9	1528	-	all_hematologic(180;0.215)	Renal(120;0.0458)	430			Platelet aggregation and Staphylococcus clumping.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Frame_Shift_Del	DEL	ENST00000336098.3	37	c.1289delG	CCDS3788.1																																																																																				0.448	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		11	131						11	131	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187534479	187534479	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:187534479delT	ENST00000441802.2	-	13	9456	c.9247delA	c.(9247-9249)accfs	p.T3083fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3083	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCAAGGGGGGTTGACGTTTTC	0.443										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(9247-9249)ccfs		FAT atypical cadherin 1							69.0	71.0	70.0					4																	187534479		2010	4170	6180	SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187534479delT	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9247delA	4.37:g.187534479delT	ENSP00000406229:p.Thr3083fs	HNSCC(5;0.00058)					p.T3083fs	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			13	9456	-			3083			Cadherin 28.			Frame_Shift_Del	DEL	ENST00000441802.2	37	c.9247delA	CCDS47177.1																																																																																				0.443	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		10	37						10	37	---	---	---	---
GOLPH3	64083	broad.mit.edu	37	5	32126485	32126486	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:32126485_32126486delGA	ENST00000265070.6	-	4	1044_1045	c.729_730delTC	c.(727-732)gctcatfs	p.H244fs	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	244					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						TCCGAGGCATGAGCCAGGTAAA	0.54																																						ENST00000265070.6																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(727-732)gcatfs		golgi phosphoprotein 3 (coat-protein)																																				SO:0001589	frameshift_variant	64083				cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	g.chr5:32126485_32126486delGA	AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"""golgi peripheral membrane protein 1, 34 kDa"", ""golgi protein"", ""coat-protein"", ""golgi-associated protein"""	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.729_730delTC	5.37:g.32126485_32126486delGA	ENSP00000265070:p.His244fs						p.AH243fs	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN			4	1044_1045	-			243					Q9UIW5	Frame_Shift_Del	DEL	ENST00000265070.6	37	c.729_730delTC	CCDS3896.1																																																																																				0.540	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130		18	84						18	84	---	---	---	---
PCDHA4	56144	broad.mit.edu	37	5	140187595	140187595	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140187595delG	ENST00000530339.1	+	1	823	c.823delG	c.(823-825)gggfs	p.G275fs	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Frame_Shift_Del_p.G275fs|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Frame_Shift_Del_p.G275fs|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	275	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGATTGAATGGGGACATTGT	0.318																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(823-825)ggfs									62.0	66.0	65.0					5																	140187595		2203	4300	6503	SO:0001589	frameshift_variant	56144							g.chr5:140187595delG	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.823delG	5.37:g.140187595delG	ENSP00000435300:p.Gly275fs					PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Frame_Shift_Del_p.G275fs|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Frame_Shift_Del_p.G275fs|PCDHA1_ENST00000504120.2_Intron	p.G275fs	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	823	+								O75285|Q2M253	Frame_Shift_Del	DEL	ENST00000530339.1	37	c.823delG	CCDS54916.1																																																																																				0.318	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		12	79						12	79	---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140208346	140208346	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140208346delG	ENST00000529310.1	+	1	784	c.670delG	c.(670-672)ggcfs	p.G224fs	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Frame_Shift_Del_p.G224fs|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	224	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCTCACAGGCACTGTTCA	0.453																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(670-672)gcfs									61.0	61.0	61.0					5																	140208346		2203	4298	6501	SO:0001589	frameshift_variant	56142							g.chr5:140208346delG	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.670delG	5.37:g.140208346delG	ENSP00000433378:p.Gly224fs					PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Frame_Shift_Del_p.G224fs|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.G224fs	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	784	+								O75283|Q9NRT8	Frame_Shift_Del	DEL	ENST00000529310.1	37	c.670delG	CCDS47281.1																																																																																				0.453	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		7	79						7	79	---	---	---	---
T	6862	broad.mit.edu	37	6	166571936	166571936	+	Frame_Shift_Del	DEL	G	G	-	rs373982301		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:166571936delG	ENST00000296946.2	-	9	1643	c.1175delC	c.(1174-1176)gcgfs	p.A392fs	T_ENST00000366871.3_Frame_Shift_Del_p.A334fs	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	392					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGAAGAGGGCGCCGAGACCGG	0.711									Chordoma, Familial Clustering of																													ENST00000296946.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(1174-1176)ggfs		T, brachyury homolog (mouse)							50.0	59.0	56.0					6																	166571936		2202	4298	6500	SO:0001589	frameshift_variant	6862	Chordoma, Familial Clustering of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166571936delG	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.1175delC	6.37:g.166571936delG	ENSP00000296946:p.Ala392fs					T_ENST00000366871.3_Frame_Shift_Del_p.A334fs	p.A392fs	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	9	1643	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	392					E7ERD6|Q4KMP4	Frame_Shift_Del	DEL	ENST00000296946.2	37	c.1175delC	CCDS5290.1																																																																																				0.711	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		9	70						9	70	---	---	---	---
PPP1R9A	55607	broad.mit.edu	37	7	94540395	94540395	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:94540395delC	ENST00000433881.1	+	2	1502	c.970delC	c.(970-972)cctfs	p.P324fs	PPP1R9A_ENST00000433360.1_Frame_Shift_Del_p.P324fs|PPP1R9A_ENST00000289495.5_Frame_Shift_Del_p.P324fs|PPP1R9A_ENST00000424654.1_Frame_Shift_Del_p.P324fs|PPP1R9A_ENST00000456331.2_Frame_Shift_Del_p.P324fs|PPP1R9A_ENST00000340694.4_Frame_Shift_Del_p.P324fs			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	324					actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCCTGAAGAACCTTGTGCTGA	0.483										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(970-972)ctfs		protein phosphatase 1, regulatory subunit 9A							73.0	74.0	73.0					7																	94540395		2203	4300	6503	SO:0001589	frameshift_variant	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94540395delC	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.970delC	7.37:g.94540395delC	ENSP00000398870:p.Pro324fs	HNSCC(28;0.073)				PPP1R9A_ENST00000433360.1_Frame_Shift_Del_p.P324fs|PPP1R9A_ENST00000456331.2_Frame_Shift_Del_p.P324fs|PPP1R9A_ENST00000340694.4_Frame_Shift_Del_p.P324fs|PPP1R9A_ENST00000433881.1_Frame_Shift_Del_p.P324fs|PPP1R9A_ENST00000424654.1_Frame_Shift_Del_p.P324fs	p.P324fs	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		1	1186	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		324					A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Frame_Shift_Del	DEL	ENST00000433881.1	37	c.970delC	CCDS34683.1																																																																																				0.483	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		9	51						9	51	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113518278	113518278	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:113518278delT	ENST00000284601.3	-	4	2937	c.2869delA	c.(2869-2871)acafs	p.T957fs		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	957					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATTTCTCTTGTTGAATTACAA	0.388																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(2869-2871)cafs		protein phosphatase 1, regulatory subunit 3A							85.0	84.0	84.0					7																	113518278		2203	4299	6502	SO:0001589	frameshift_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113518278delT	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2869delA	7.37:g.113518278delT	ENSP00000284601:p.Thr957fs						p.T957fs	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	2937	-			957					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Frame_Shift_Del	DEL	ENST00000284601.3	37	c.2869delA	CCDS5759.1																																																																																				0.388	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		7	88						7	88	---	---	---	---
TFEC	22797	broad.mit.edu	37	7	115580669	115580669	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:115580669delG	ENST00000265440.7	-	8	1160	c.980delC	c.(979-981)cctfs	p.P327fs	TFEC_ENST00000457268.1_Frame_Shift_Del_p.P260fs|TFEC_ENST00000320239.7_Frame_Shift_Del_p.P298fs|TFEC_ENST00000393485.1_3'UTR	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	327	Necessary for transcriptional transactivation.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GGAAACTGCAGGGGAAGTGGC	0.408																																						ENST00000265440.7																			0				NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(979-981)ctfs		transcription factor EC							113.0	101.0	105.0					7																	115580669		2203	4300	6503	SO:0001589	frameshift_variant	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115580669delG	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.980delC	7.37:g.115580669delG	ENSP00000265440:p.Pro327fs					TFEC_ENST00000457268.1_Frame_Shift_Del_p.P260fs|TFEC_ENST00000320239.7_Frame_Shift_Del_p.P298fs|TFEC_ENST00000393485.1_3'UTR	p.P327fs	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		8	1160	-			327			Necessary for transcriptional transactivation.		B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Frame_Shift_Del	DEL	ENST00000265440.7	37	c.980delC	CCDS5762.1																																																																																				0.408	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252		22	109						22	109	---	---	---	---
UROS	7390	broad.mit.edu	37	10	127505020	127505020	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:127505020delC	ENST00000368797.4	-	2	273	c.49delG	c.(49-51)gatfs	p.D17fs	UROS_ENST00000368774.1_Frame_Shift_Del_p.D17fs|UROS_ENST00000368778.3_Frame_Shift_Del_p.D17fs|UROS_ENST00000368786.1_Frame_Shift_Del_p.D17fs	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	17					cellular response to amine stimulus (GO:0071418)|cellular response to arsenic-containing substance (GO:0071243)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to antibiotic (GO:0046677)|small molecule metabolic process (GO:0044281)|uroporphyrinogen III biosynthetic process (GO:0006780)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|uroporphyrinogen-III synthase activity (GO:0004852)			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				ATATACGGATCCTGGCCACAG	0.502																																						ENST00000368778.3																			0				endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7						c.(49-51)atfs		uroporphyrinogen III synthase							144.0	123.0	130.0					10																	127505020		2203	4300	6503	SO:0001589	frameshift_variant	7390				heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity	g.chr10:127505020delC	J03824	CCDS7648.1	10q25.2-q26.3	2008-07-31	2008-07-31		ENSG00000188690	ENSG00000188690	4.2.1.75		12592	protein-coding gene	gene with protein product	"""congenital erythropoietic porphyria"""	606938				2037278	Standard	NM_000375		Approved		uc001lix.4	P10746	OTTHUMG00000019236	ENST00000368797.4:c.49delG	10.37:g.127505020delC	ENSP00000357787:p.Asp17fs					UROS_ENST00000368797.4_Frame_Shift_Del_p.D17fs|UROS_ENST00000368786.1_Frame_Shift_Del_p.D17fs|UROS_ENST00000368774.1_Frame_Shift_Del_p.D17fs	p.D17fs			P10746	HEM4_HUMAN			2	242	-		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)	17					B2RC13|D3DRF7|Q9H2T1	Frame_Shift_Del	DEL	ENST00000368797.4	37	c.49delG	CCDS7648.1																																																																																				0.502	UROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050929.1	NM_000375		7	66						7	66	---	---	---	---
OR5B12	390191	broad.mit.edu	37	11	58207293	58207293	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:58207293delA	ENST00000302572.2	-	1	353	c.332delT	c.(331-333)ttcfs	p.F111fs		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGCCAGGAGGAAACTTTCTGC	0.438																																						ENST00000302572.2																			0				large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40						c.(331-333)tcfs		olfactory receptor, family 5, subfamily B, member 12							107.0	101.0	103.0					11																	58207293		2201	4295	6496	SO:0001589	frameshift_variant	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58207293delA	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.332delT	11.37:g.58207293delA	ENSP00000306657:p.Phe111fs						p.F111fs	NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN			1	353	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	111					B2RNL2|Q6IEV5	Frame_Shift_Del	DEL	ENST00000302572.2	37	c.332delT	CCDS31551.1																																																																																				0.438	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		22	93						22	93	---	---	---	---
MAP3K11	4296	broad.mit.edu	37	11	65367018	65367019	+	Frame_Shift_Del	DEL	GC	GC	-	rs201108277	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:65367018_65367019delGC	ENST00000530153.1	-	9	1802_1803	c.1281_1282delGC	c.(1279-1284)gcgcccfs	p.P428fs	MAP3K11_ENST00000309100.3_Frame_Shift_Del_p.P685fs|MAP3K11_ENST00000532507.1_Frame_Shift_Del_p.P101fs|MAP3K11_ENST00000534432.1_5'UTR					mitogen-activated protein kinase kinase kinase 11											breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GTCGGGCAGGGCGCGGGCGTTG	0.738																																						ENST00000309100.3																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						c.(2050-2055)gcccfs		mitogen-activated protein kinase kinase kinase 11																																				SO:0001589	frameshift_variant	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65367018_65367019delGC		CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.1281_1282delGC	11.37:g.65367020_65367021delGC	ENSP00000433886:p.Pro428fs					MAP3K11_ENST00000530153.1_Frame_Shift_Del_p.AP427fs|MAP3K11_ENST00000534432.1_5'UTR|MAP3K11_ENST00000532507.1_Frame_Shift_Del_p.AP100fs	p.AP684fs	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN			9	2537_2538	-			684			Pro-rich.			Frame_Shift_Del	DEL	ENST00000530153.1	37	c.2052_2053delGC																																																																																					0.738	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000390233.2			13	67						13	67	---	---	---	---
TPTE2P2	644623	broad.mit.edu	37	13	52857402	52857402	+	RNA	DEL	A	A	-	rs369941794		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:52857402delA	ENST00000451298.1	-	0	303																											ACTTAACGTCAAAAAAAATGT	0.289																																						ENST00000451298.1																			0																																																			644623							g.chr13:52857402delA																													13.37:g.52857402delA						RP11-64P12.8_ENST00000606031.1_RNA								0	303	-									RNA	DEL	ENST00000451298.1	37																																																																																						0.289	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			4	9						4	9	---	---	---	---
KLHL28	54813	broad.mit.edu	37	14	45414972	45414973	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:45414972_45414973insA	ENST00000396128.4	-	2	278_279	c.159_160insT	c.(157-162)cttgccfs	p.A54fs	KLHL28_ENST00000355081.2_Frame_Shift_Ins_p.A68fs	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	54	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CTGACGCTGGCAAGTACCACTT	0.426																																						ENST00000396128.4																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(157-162)ctccagfs		kelch-like family member 28																																				SO:0001589	frameshift_variant	54813							g.chr14:45414972_45414973insA	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.160dupT	14.37:g.45414974_45414974dupA	ENSP00000379434:p.Ala54fs					KLHL28_ENST00000355081.2_Frame_Shift_Ins_p.Q68fs	p.Q54fs	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN			2	278_279	-			54			BTB.		Q0VAL5	Frame_Shift_Ins	INS	ENST00000396128.4	37	c.159_160insT	CCDS9680.1																																																																																				0.426	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3			11	97						11	97	---	---	---	---
IGHV3-48	28424	broad.mit.edu	37	14	106993999	106993999	+	RNA	DEL	C	C	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:106993999delC	ENST00000390624.2	-	0	244									immunoglobulin heavy variable 3-48																		GCCTGGCGGACCCAGTTCATG	0.552																																						ENST00000390624.2																			0																				94.0	103.0	100.0					14																	106993999		1826	4074	5900			28424							g.chr14:106993999delC	M99675		14q32.33	2012-02-08			ENSG00000211964	ENSG00000211964		"""Immunoglobulins / IGH locus"""	5606	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151959		14.37:g.106993999delC														0	244	-									RNA	DEL	ENST00000390624.2	37																																																																																						0.552	IGHV3-48-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324605.1	NG_001019		37	238						37	238	---	---	---	---
ACAN	176	broad.mit.edu	37	15	89391196	89391197	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:89391196_89391197insG	ENST00000561243.1	+	8	1659_1660	c.1659_1660insG	c.(1660-1662)gggfs	p.G554fs	ACAN_ENST00000439576.2_Frame_Shift_Ins_p.G554fs|ACAN_ENST00000352105.7_Frame_Shift_Ins_p.G554fs|ACAN_ENST00000558207.1_Frame_Shift_Ins_p.G554fs|ACAN_ENST00000559004.1_Frame_Shift_Ins_p.G554fs			P16112	PGCA_HUMAN	aggrecan	554	G2-B.|Link 3. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ACAGCAGCCCAGGGGTCAGGAC	0.574																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1657-1662)ccgggtfs		aggrecan																																				SO:0001589	frameshift_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89391196_89391197insG	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1663dupG	15.37:g.89391200_89391200dupG	ENSP00000453342:p.Gly554fs					ACAN_ENST00000558207.1_Frame_Shift_Ins_p.PG553fs|ACAN_ENST00000352105.7_Frame_Shift_Ins_p.PG553fs|ACAN_ENST00000561243.1_Frame_Shift_Ins_p.PG553fs|ACAN_ENST00000559004.1_Frame_Shift_Ins_p.PG553fs	p.PG553fs	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		9	2033_2034	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		553					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Frame_Shift_Ins	INS	ENST00000561243.1	37	c.1659_1660insG	CCDS53970.1																																																																																				0.574	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		12	104						12	104	---	---	---	---
MGRN1	23295	broad.mit.edu	37	16	4707252	4707253	+	Frame_Shift_Ins	INS	-	-	C	rs202235487	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:4707252_4707253insC	ENST00000399577.5	+	5	542_543	c.449_450insC	c.(448-453)agccccfs	p.SP150fs	MGRN1_ENST00000586183.1_Frame_Shift_Ins_p.SP150fs|MGRN1_ENST00000415496.1_Frame_Shift_Ins_p.SP150fs|MGRN1_ENST00000588994.1_Frame_Shift_Ins_p.SP150fs|MGRN1_ENST00000262370.7_Frame_Shift_Ins_p.SP150fs	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	150					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						TGCAGATACAGCCCCAAGAGCC	0.629																																						ENST00000399577.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(448-450)accfs		mahogunin ring finger 1, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	23295				endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:4707252_4707253insC	AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.453dupC	16.37:g.4707256_4707256dupC	ENSP00000382487:p.Ser150fs					MGRN1_ENST00000415496.1_Frame_Shift_Ins_p.T150fs|MGRN1_ENST00000262370.7_Frame_Shift_Ins_p.T150fs|MGRN1_ENST00000586183.1_Frame_Shift_Ins_p.T150fs|MGRN1_ENST00000588994.1_Frame_Shift_Ins_p.T150fs	p.T150fs	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN			5	542_543	+			150					A4URL3|A4URL4|Q86W76	Frame_Shift_Ins	INS	ENST00000399577.5	37	c.449_450insC	CCDS45402.1																																																																																				0.629	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			7	82						7	82	---	---	---	---
GHDC	84514	broad.mit.edu	37	17	40342251	40342251	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:40342251delA	ENST00000301671.8	-	8	1767	c.1326delT	c.(1324-1326)tttfs	p.F442fs	GHDC_ENST00000436923.2_Frame_Shift_Del_p.L472fs|GHDC_ENST00000414034.3_Frame_Shift_Del_p.L472fs|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000587427.1_Frame_Shift_Del_p.F442fs|GHDC_ENST00000428494.2_Frame_Shift_Del_p.F403fs|GHDC_ENST00000593209.1_Frame_Shift_Del_p.F442fs			Q8N2G8	GHDC_HUMAN	GH3 domain containing	442						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TCAGCGCCACAAACACCTCGT	0.547																																						ENST00000301671.8																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1324-1326)ttfs		GH3 domain containing							128.0	121.0	123.0					17																	40342251		2203	4300	6503	SO:0001589	frameshift_variant	84514					endoplasmic reticulum|nuclear envelope		g.chr17:40342251delA	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.1326delT	17.37:g.40342251delA	ENSP00000301671:p.Phe442fs					GHDC_ENST00000428494.2_Frame_Shift_Del_p.F403fs|GHDC_ENST00000436923.2_Frame_Shift_Del_p.L472fs|GHDC_ENST00000414034.3_Frame_Shift_Del_p.L472fs|GHDC_ENST00000593209.1_Frame_Shift_Del_p.F442fs|GHDC_ENST00000587427.1_Frame_Shift_Del_p.F442fs	p.F442fs			Q8N2G8	GHDC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	8	1767	-		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)	442					B4DQS4|E9PDB5|Q9BXM6	Frame_Shift_Del	DEL	ENST00000301671.8	37	c.1326delT	CCDS11422.1																																																																																				0.547	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	NM_032484		14	169						14	169	---	---	---	---
PHOSPHO1	162466	broad.mit.edu	37	17	47302390	47302392	+	Intron	DEL	AGG	AGG	-	rs146708566		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:47302390_47302392delAGG	ENST00000310544.4	-	3	173				PHOSPHO1_ENST00000514112.1_In_Frame_Del_p.S32del|PHOSPHO1_ENST00000413580.1_In_Frame_Del_p.S32del			Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1						bone mineralization involved in bone maturation (GO:0035630)|dephosphorylation (GO:0016311)|endochondral ossification (GO:0001958)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of bone mineralization (GO:0030500)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|phosphocholine phosphatase activity (GO:0052731)|phosphoethanolamine phosphatase activity (GO:0052732)|pyrophosphatase activity (GO:0016462)							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	ggagagcagcaggaggaggagga	0.7																																						ENST00000413580.1																			0											c.(94-99)tgc>t		phosphatase, orphan 1	Choline(DB00122)		,	46,3118		1,44,1537					,	-2.0	0.2		dbSNP_134	3	213,6201		29,155,3023	no	intron,coding	PHOSPHO1	NM_178500.3,NM_001143804.1	,	30,199,4560	A1A1,A1R,RR		3.3209,1.4539,2.7041	,	,		259,9319				SO:0001627	intron_variant	162466				regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity	g.chr17:47302390_47302392delAGG	AJ457189	CCDS11547.1, CCDS45726.1	17q21.32	2008-05-02				ENSG00000173868			16815	protein-coding gene	gene with protein product						12464021	Standard	NM_178500		Approved		uc010wlv.1	Q8TCT1		ENST00000310544.4:c.46-24CCT>-	17.37:g.47302399_47302401delAGG						PHOSPHO1_ENST00000310544.4_Intron|PHOSPHO1_ENST00000514112.1_In_Frame_Del_p.SC32del	p.SC32del	NM_001143804.1|NM_178500.3	NP_001137276.1|NP_848595.1	Q8TCT1	PHOP1_HUMAN	Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		3	512_514	-			0					E9PAM0|Q17RU6	In_Frame_Del	DEL	ENST00000310544.4	37	c.95_97delCCT	CCDS11547.1																																																																																				0.700	PHOSPHO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364467.2			2	4						2	4	---	---	---	---
KDSR	2531	broad.mit.edu	37	18	61018124	61018125	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:61018124_61018125insA	ENST00000406396.3	-	6	996_997	c.605_606insT	c.(604-606)atgfs	p.M202fs	KDSR_ENST00000326575.5_Intron	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	202					3-keto-sphinganine metabolic process (GO:0006666)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-dehydrosphinganine reductase activity (GO:0047560)			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						CTTTTACCTCCATCTGCAAAGC	0.406																																						ENST00000406396.3																			0				endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						c.(604-606)agafs		3-ketodihydrosphingosine reductase																																				SO:0001589	frameshift_variant	2531				3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding	g.chr18:61018124_61018125insA		CCDS11982.1	18q21	2011-09-20	2008-02-20	2008-02-20	ENSG00000119537	ENSG00000119537	1.1.1.102	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	4021	protein-coding gene	gene with protein product	"""3-dehydrosphinganine reductase"", ""short chain dehydrogenase/reductase family 35C, member 1"""	136440	"""follicular lymphoma variant translocation 1"""	FVT1		8417785, 15328338, 17420465, 19027726	Standard	NM_002035		Approved	DHSR, SDR35C1	uc010dpw.3	Q06136	OTTHUMG00000132792	ENST00000406396.3:c.606dupT	18.37:g.61018125_61018125dupA	ENSP00000385083:p.Met202fs					KDSR_ENST00000326575.5_Intron	p.R202fs	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN			6	996_997	-			202					B2R5Y1|B4DMX0	Frame_Shift_Ins	INS	ENST00000406396.3	37	c.605_606insT	CCDS11982.1																																																																																				0.406	KDSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256200.2			27	111						27	111	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57328519	57328519	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:57328519delG	ENST00000326441.9	-	10	1654	c.1291delC	c.(1291-1293)ctgfs	p.L431fs	ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Frame_Shift_Del_p.L431fs|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Frame_Shift_Del_p.L305fs|PEG3_ENST00000598410.1_Frame_Shift_Del_p.L307fs|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	431					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGGCTGCTCAGGCTGCTCACG	0.512																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1291-1293)tgfs		paternally expressed 3							160.0	152.0	155.0					19																	57328519		2203	4300	6503	SO:0001589	frameshift_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328519delG	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1291delC	19.37:g.57328519delG	ENSP00000326581:p.Leu431fs					ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Frame_Shift_Del_p.L307fs|PEG3_ENST00000593695.1_Frame_Shift_Del_p.L305fs|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Frame_Shift_Del_p.L431fs	p.L431fs	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	1654	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	431					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Frame_Shift_Del	DEL	ENST00000326441.9	37	c.1291delC	CCDS12948.1																																																																																				0.512	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			28	172						28	172	---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22656613	22656613	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:22656613delG	ENST00000400546.1	+	3	479	c.230delG	c.(229-231)cggfs	p.R77fs	NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Frame_Shift_Del_p.R102fs|NCAM2_ENST00000284894.7_Intron	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	77	Ig-like C2-type 1.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GTTAGGTCACGGTTAACCATC	0.398																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(229-231)cgfs		neural cell adhesion molecule 2							123.0	116.0	118.0					21																	22656613		1885	4108	5993	SO:0001589	frameshift_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22656613delG		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.230delG	21.37:g.22656613delG	ENSP00000383392:p.Arg77fs					NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Frame_Shift_Del_p.R102fs	p.R77fs	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	3	479	+		Lung NSC(9;0.195)	77			Ig-like C2-type 1.		A8MQ06|B7Z841|Q7Z7F2	Frame_Shift_Del	DEL	ENST00000400546.1	37	c.230delG	CCDS42910.1																																																																																				0.398	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		12	46						12	46	---	---	---	---
ERCC6L	54821	broad.mit.edu	37	X	71424931	71424932	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:71424931_71424932insT	ENST00000334463.3	-	2	3820_3821	c.3685_3686insA	c.(3685-3687)atafs	p.I1229fs	ERCC6L_ENST00000373657.1_Frame_Shift_Ins_p.I1106fs|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	1229					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TGCACTTTTTATGTCAAGCGCT	0.347																																						ENST00000373657.1																			0				breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(3316-3318)aaafs		excision repair cross-complementing rodent repair deficiency, complementation group 6-like																																				SO:0001589	frameshift_variant	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71424931_71424932insT	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.3686dupA	X.37:g.71424932_71424932dupT	ENSP00000334675:p.Ile1229fs					ERCC6L_ENST00000334463.3_Frame_Shift_Ins_p.K1229fs|PIN4_ENST00000423432.2_Intron	p.K1106fs			Q2NKX8	ERC6L_HUMAN			3	3918_3919	-	Renal(35;0.156)		1229					Q8NCI1|Q96H93|Q9NXQ8	Frame_Shift_Ins	INS	ENST00000334463.3	37	c.3316_3317insA	CCDS35329.1																																																																																				0.347	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		12	26						12	26	---	---	---	---
MAGEA4	4103	broad.mit.edu	37	X	151092158	151092159	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:151092158_151092159insA	ENST00000360243.2	+	3	289_290	c.22_23insA	c.(22-24)cagfs	p.Q8fs	MAGEA4_ENST00000370340.3_Frame_Shift_Ins_p.Q8fs|MAGEA4_ENST00000393920.1_Frame_Shift_Ins_p.Q8fs|MAGEA4_ENST00000393921.1_Frame_Shift_Ins_p.Q8fs|MAGEA4_ENST00000276344.2_Frame_Shift_Ins_p.Q8fs|MAGEA4_ENST00000370335.1_Frame_Shift_Ins_p.Q8fs|MAGEA4_ENST00000370337.4_Frame_Shift_Ins_p.Q8fs	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	8										breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGAAGAGTCAGCACTGCAAG	0.609																																						ENST00000370340.3																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27						c.(22-24)gcafs		melanoma antigen family A, 4																																				SO:0001589	frameshift_variant	4103						protein binding	g.chrX:151092158_151092159insA		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.23dupA	X.37:g.151092159_151092159dupA	ENSP00000353379:p.Gln8fs					MAGEA4_ENST00000393920.1_Frame_Shift_Ins_p.A8fs|MAGEA4_ENST00000276344.2_Frame_Shift_Ins_p.A8fs|MAGEA4_ENST00000370337.4_Frame_Shift_Ins_p.A8fs|MAGEA4_ENST00000360243.2_Frame_Shift_Ins_p.A8fs|MAGEA4_ENST00000370335.1_Frame_Shift_Ins_p.A8fs|MAGEA4_ENST00000393921.1_Frame_Shift_Ins_p.A8fs	p.A8fs			P43358	MAGA4_HUMAN			3	289_290	+	Acute lymphoblastic leukemia(192;6.56e-05)		8					Q14798	Frame_Shift_Ins	INS	ENST00000360243.2	37	c.22_23insA	CCDS14702.1																																																																																				0.609	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		13	36						13	36	---	---	---	---
