#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
LDLRAD1	388633	broad.mit.edu	37	1	54474773	54474773	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:54474773C>A	ENST00000371360.1	-	6	517	c.500G>T	c.(499-501)tGg>tTg	p.W167L	LDLRAD1_ENST00000371362.3_Missense_Mutation_p.W78L|LDLRAD1_ENST00000545928.1_Missense_Mutation_p.W124L|LDLRAD1_ENST00000420619.1_Missense_Mutation_p.W128L	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1	167	LDL-receptor class A 3; atypical. {ECO:0000255|PROSITE-ProRule:PRU00124}.					integral component of membrane (GO:0016021)				large_intestine(3)|prostate(1)|skin(3)	7						ACAGCGCCACCACCCAGGGCC	0.592																																						ENST00000371360.1																			0				large_intestine(3)|prostate(1)|skin(3)	7						c.(499-501)tGg>tTg		low density lipoprotein receptor class A domain containing 1							102.0	97.0	99.0					1																	54474773		2203	4300	6503	SO:0001583	missense	388633					integral to membrane	receptor activity	g.chr1:54474773C>A		CCDS30725.1, CCDS60145.1, CCDS60146.1, CCDS60147.1	1p32.3	2008-02-05	2005-10-07		ENSG00000203985	ENSG00000203985			32069	protein-coding gene	gene with protein product			"""low density lipoprotein receptor A domain containing 1"""				Standard	NM_001010978		Approved		uc001cwm.2	Q5T700	OTTHUMG00000008433	ENST00000371360.1:c.500G>T	1.37:g.54474773C>A	ENSP00000360411:p.Trp167Leu		Somatic				LDLRAD1_ENST00000420619.1_Missense_Mutation_p.W128L|LDLRAD1_ENST00000371362.3_Missense_Mutation_p.W78L|LDLRAD1_ENST00000545928.1_Missense_Mutation_p.W124L	p.W167L	NM_001010978.2	NP_001010978.2	WXS	Illumina GAIIx	Phase_I	Q5T700	LRAD1_HUMAN			6	517	-			167			LDL-receptor class A 3; atypical.		A0PJY0|B7ZME3|Q5T6Z9	Missense_Mutation	SNP	ENST00000371360.1	37	c.500G>T	CCDS30725.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548508	0.65311	.	.	ENSG00000203985	ENST00000371362;ENST00000371360;ENST00000545928;ENST00000420619	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	4.5	4.5	0.54988	.	0.000000	0.52532	D	0.000074	D	0.91304	0.7258	M	0.67953	2.075	0.48830	D	0.999717	D;D	0.89917	0.985;1.0	P;D	0.71870	0.527;0.975	D	0.88563	0.3124	10	0.15066	T	0.55	-20.3964	16.1603	0.81700	0.0:1.0:0.0:0.0	.	124;167	B7ZME3;Q5T700	.;LRAD1_HUMAN	L	78;167;124;128	ENSP00000360413:W78L;ENSP00000360411:W167L;ENSP00000445871:W124L;ENSP00000411017:W128L	ENSP00000360411:W167L	W	-	2	0	LDLRAD1	54247361	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	5.081000	0.64444	2.348000	0.79779	0.655000	0.94253	TGG		0.592	LDLRAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023243.1	NM_001010978		3	158	3	158	---	---	---	---
LEPR	3953	broad.mit.edu	37	1	66081866	66081866	+	Missense_Mutation	SNP	T	T	C	rs375934938		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:66081866T>C	ENST00000349533.6	+	15	2356	c.2171T>C	c.(2170-2172)gTt>gCt	p.V724A	LEPR_ENST00000344610.8_Missense_Mutation_p.V724A|LEPR_ENST00000371058.1_Missense_Mutation_p.V724A|LEPR_ENST00000371060.3_Missense_Mutation_p.V724A|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Missense_Mutation_p.V724A	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GGTGCTTCTGTTGCAAATTTT	0.388																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(2170-2172)gTt>gCt		leptin receptor		T	ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL	1,4405	2.1+/-5.4	0,1,2202	139.0	134.0	136.0		2171,2171,2171,2171,2171,2171	-2.6	0.0	1		136	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	LEPR	NM_001003679.3,NM_001003680.3,NM_001198687.1,NM_001198688.1,NM_001198689.1,NM_002303.5	64,64,64,64,64,64	0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154	benign,benign,benign,benign,benign,benign	724/897,724/959,724/959,724/907,724/897,724/1166	66081866	2,13004	2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66081866T>C	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2171T>C	1.37:g.66081866T>C	ENSP00000330393:p.Val724Ala		Somatic				LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Missense_Mutation_p.V724A|LEPR_ENST00000371058.1_Missense_Mutation_p.V724A|LEPR_ENST00000371059.3_Missense_Mutation_p.V724A|LEPR_ENST00000344610.8_Missense_Mutation_p.V724A	p.V724A	NM_002303.5	NP_002294.2	WXS	Illumina GAIIx	Phase_I	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	15	2356	+			724			Fibronectin type-III 3.		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.2171T>C	CCDS631.1	.	.	.	.	.	.	.	.	.	.	T	9.243	1.038835	0.19669	2.27E-4	1.16E-4	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.5	-2.59	0.06209	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (1);	1.330700	0.04546	N	0.388924	T	0.08582	0.0213	N	0.08118	0	0.09310	N	1	B;B;B	0.24132	0.006;0.004;0.098	B;B;B	0.26969	0.005;0.003;0.075	T	0.27262	-1.0079	10	0.02654	T	1	0.7985	13.2248	0.59909	0.0:0.6007:0.0:0.3993	.	724;724;724	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	A	724	ENSP00000340884:V724A;ENSP00000330393:V724A;ENSP00000360099:V724A;ENSP00000360098:V724A;ENSP00000360097:V724A	ENSP00000340884:V724A	V	+	2	0	LEPR	65854454	0.000000	0.05858	0.000000	0.03702	0.843000	0.47879	-0.141000	0.10327	-0.495000	0.06659	0.533000	0.62120	GTT		0.388	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		4	56	4	56	---	---	---	---
LRRC8C	84230	broad.mit.edu	37	1	90178503	90178503	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:90178503A>C	ENST00000370454.4	+	3	629	c.374A>C	c.(373-375)aAg>aCg	p.K125T	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	125					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGGTATGCCAAGTATTTCCCT	0.433																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(373-375)aAg>aCg		leucine rich repeat containing 8 family, member C							141.0	135.0	137.0					1																	90178503		2203	4300	6503	SO:0001583	missense	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90178503A>C		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.374A>C	1.37:g.90178503A>C	ENSP00000359483:p.Lys125Thr		Somatic				LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	p.K125T	NM_032270.4	NP_115646	WXS	Illumina GAIIx	Phase_I	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	629	+		all_lung(203;0.126)	125					B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	c.374A>C	CCDS725.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.588417	0.86851	.	.	ENSG00000171488	ENST00000370454	T	0.29397	1.57	5.84	5.84	0.93424	Leucine-rich repeat-containing protein 8, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	M	0.73962	2.25	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.55457	-0.8138	10	0.87932	D	0	.	16.2047	0.82120	1.0:0.0:0.0:0.0	.	125	Q8TDW0	LRC8C_HUMAN	T	125	ENSP00000359483:K125T	ENSP00000359483:K125T	K	+	2	0	LRRC8C	89951091	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.335000	0.96500	2.220000	0.72140	0.528000	0.53228	AAG		0.433	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		3	159	3	159	---	---	---	---
ALX3	257	broad.mit.edu	37	1	110607211	110607211	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:110607211G>A	ENST00000369792.4	-	2	679	c.592C>T	c.(592-594)Cag>Tag	p.Q198*	RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	198					embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|pattern specification process (GO:0007389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCCTCACCTGTACCCGGGCC	0.612																																						ENST00000369792.4																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(592-594)Cag>Tag		ALX homeobox 3							39.0	37.0	38.0					1																	110607211		2203	4300	6503	SO:0001587	stop_gained	257					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:110607211G>A	AF008203	CCDS819.1	1p13.3	2014-02-04	2008-11-04		ENSG00000156150	ENSG00000156150		"""Homeoboxes / PRD class"""	449	protein-coding gene	gene with protein product		606014	"""aristaless-like homeobox 3"", ""frontonasal dysplasia"""	FND		15226305, 11807986, 19409524	Standard	NM_006492		Approved		uc001dzb.3	O95076	OTTHUMG00000011650	ENST00000369792.4:c.592C>T	1.37:g.110607211G>A	ENSP00000358807:p.Gln198*		Somatic					p.Q198*	NM_006492.2	NP_006483.2	WXS	Illumina GAIIx	Phase_I	O95076	ALX3_HUMAN		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	679	-		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	198					O95075|Q5T8M4	Nonsense_Mutation	SNP	ENST00000369792.4	37	c.592C>T	CCDS819.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761142	0.89932	.	.	ENSG00000156150	ENST00000369792	.	.	.	4.32	4.32	0.51571	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	14.6622	0.68879	0.0:0.0:1.0:0.0	.	.	.	.	X	198	.	ENSP00000358807:Q198X	Q	-	1	0	ALX3	110408734	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.813000	0.99286	2.112000	0.64535	0.462000	0.41574	CAG		0.612	ALX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032232.2	NM_006492		4	46	4	46	---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33488411	33488411	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:33488411G>A	ENST00000404816.2	+	15	2922	c.2569G>A	c.(2569-2571)Gct>Act	p.A857T	LTBP1_ENST00000407925.1_Missense_Mutation_p.A531T|LTBP1_ENST00000404525.1_Missense_Mutation_p.A478T|LTBP1_ENST00000418533.2_Missense_Mutation_p.A531T|LTBP1_ENST00000390003.4_Missense_Mutation_p.A532T|LTBP1_ENST00000354476.3_Missense_Mutation_p.A858T|LTBP1_ENST00000402934.1_Missense_Mutation_p.A478T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	857					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGCTCCTGAAGCTTCTACGTC	0.428																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(2569-2571)Gct>Act		latent transforming growth factor beta binding protein 1							145.0	141.0	142.0					2																	33488411		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33488411G>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2569G>A	2.37:g.33488411G>A	ENSP00000386043:p.Ala857Thr		Somatic				LTBP1_ENST00000418533.2_Missense_Mutation_p.A531T|LTBP1_ENST00000390003.4_Missense_Mutation_p.A532T|LTBP1_ENST00000404525.1_Missense_Mutation_p.A478T|LTBP1_ENST00000402934.1_Missense_Mutation_p.A478T|LTBP1_ENST00000354476.3_Missense_Mutation_p.A858T|LTBP1_ENST00000407925.1_Missense_Mutation_p.A531T	p.A857T			WXS	Illumina GAIIx	Phase_I	Q14766	LTBP1_HUMAN			15	2922	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	857					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.2569G>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836156	0.50951	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000413303;ENST00000468091	T;T;T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.32;-1.27;-1.31;-1.29;-1.27;1.76;0.36	5.38	4.5	0.54988	.	.	.	.	.	T	0.66963	0.2843	N	0.22421	0.69	0.80722	D	1	P;P;B;B;B;P	0.37663	0.469;0.571;0.003;0.374;0.374;0.604	B;B;B;B;B;B	0.34038	0.07;0.174;0.004;0.108;0.108;0.147	T	0.64007	-0.6508	9	0.22109	T	0.4	.	13.9881	0.64348	0.0728:0.0:0.9272:0.0	.	857;531;478;531;532;858	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	T	857;858;532;531;478;478;531;185;175	ENSP00000386043:A857T;ENSP00000346467:A858T;ENSP00000374653:A532T;ENSP00000393057:A531T;ENSP00000384373:A478T;ENSP00000385359:A478T;ENSP00000384091:A531T;ENSP00000415412:A185T;ENSP00000417591:A175T	ENSP00000346467:A858T	A	+	1	0	LTBP1	33341915	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.777000	0.47717	1.270000	0.44297	0.561000	0.74099	GCT		0.428	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		13	89	13	89	---	---	---	---
ATL2	64225	broad.mit.edu	37	2	38546101	38546101	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:38546101C>T	ENST00000378954.4	-	3	425	c.424G>A	c.(424-426)Ggc>Agc	p.G142S	ATL2_ENST00000546051.1_5'UTR|ATL2_ENST00000406122.1_5'UTR|ATL2_ENST00000452935.2_Missense_Mutation_p.G124S|ATL2_ENST00000539122.1_5'UTR|ATL2_ENST00000332337.4_Missense_Mutation_p.G124S|ATL2_ENST00000419554.2_Missense_Mutation_p.G142S|ATL2_ENST00000402054.1_5'UTR	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	142	GB1/RHD3-type G.				endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						CTTTCACAGCCACCTCGCCAT	0.348																																						ENST00000378954.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(424-426)Ggc>Agc		atlastin GTPase 2							225.0	226.0	226.0					2																	38546101		2203	4300	6503	SO:0001583	missense	64225				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr2:38546101C>T		CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"""ADP-ribosylation factor-like 6 interacting protein 2"""	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.424G>A	2.37:g.38546101C>T	ENSP00000368237:p.Gly142Ser		Somatic				ATL2_ENST00000452935.2_Missense_Mutation_p.G124S|ATL2_ENST00000546051.1_5'UTR|ATL2_ENST00000419554.2_Missense_Mutation_p.G142S|ATL2_ENST00000539122.1_5'UTR|ATL2_ENST00000406122.1_5'UTR|ATL2_ENST00000332337.4_Missense_Mutation_p.G124S|ATL2_ENST00000402054.1_5'UTR	p.G142S	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	WXS	Illumina GAIIx	Phase_I	Q8NHH9	ATLA2_HUMAN			3	425	-			142					B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	ENST00000378954.4	37	c.424G>A	CCDS46260.1	.	.	.	.	.	.	.	.	.	.	C	36	5.656713	0.96724	.	.	ENSG00000119787	ENST00000378954;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000451483	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98	5.54	5.54	0.83059	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	M	0.89414	3.03	0.80722	D	1	D;D;D;D	0.76494	0.998;0.997;0.994;0.999	D;D;D;D	0.80764	0.97;0.931;0.992;0.994	D	0.89933	0.4067	10	0.59425	D	0.04	-15.0307	18.4693	0.90767	0.0:1.0:0.0:0.0	.	124;124;142;142	B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9	.;.;.;ATLA2_HUMAN	S	142;124;142;124;179	ENSP00000368237:G142S;ENSP00000333393:G124S;ENSP00000415336:G142S;ENSP00000390743:G124S;ENSP00000404921:G179S	ENSP00000333393:G124S	G	-	1	0	ATL2	38399605	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.707000	0.84623	2.580000	0.87095	0.563000	0.77884	GGC		0.348	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374		24	240	24	240	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168105325	168105325	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:168105325A>T	ENST00000409195.1	+	9	7512	c.7423A>T	c.(7423-7425)Acg>Tcg	p.T2475S	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2253S|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T2475S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2300					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						CAGTGAACACACGGAGACAAA	0.403																																						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.(7423-7425)Acg>Tcg		xin actin-binding repeat containing 2							80.0	78.0	79.0					2																	168105325		1922	4138	6060	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105325A>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.7423A>T	2.37:g.168105325A>T	ENSP00000386840:p.Thr2475Ser		Somatic				XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2253S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T2475S	p.T2475S	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	A4UGR9	XIRP2_HUMAN			9	7512	+			2300					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.7423A>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	4.961	0.178450	0.09443	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02446	4.29;4.29;4.29	5.74	1.78	0.24846	.	0.864475	0.10373	N	0.682606	T	0.03053	0.0090	L	0.56769	1.78	0.09310	N	1	B;B;B	0.14438	0.006;0.01;0.01	B;B;B	0.18561	0.01;0.022;0.022	T	0.51156	-0.8741	10	0.05833	T	0.94	0.2262	5.262	0.15578	0.5586:0.2871:0.1543:0.0	.	2300;2300;2253	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	S	2475;2475;2253	ENSP00000386840:T2475S;ENSP00000295237:T2475S;ENSP00000387255:T2253S	ENSP00000295237:T2475S	T	+	1	0	XIRP2	167813571	0.000000	0.05858	0.013000	0.15412	0.369000	0.29798	0.639000	0.24690	0.419000	0.25927	0.523000	0.50628	ACG		0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		5	47	5	47	---	---	---	---
FBXL2	25827	broad.mit.edu	37	3	33414823	33414823	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr3:33414823C>A	ENST00000484457.1	+	7	522	c.431C>A	c.(430-432)aCa>aAa	p.T144K	FBXL2_ENST00000507198.1_Intron|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000538892.1_Intron|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538181.1_Missense_Mutation_p.T60K	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GTGTCTATTACAAACAGCTCC	0.428																																						ENST00000484457.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						c.(430-432)aCa>aAa		F-box and leucine-rich repeat protein 2							174.0	176.0	176.0					3																	33414823		2203	4300	6503	SO:0001583	missense	25827				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	g.chr3:33414823C>A	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.431C>A	3.37:g.33414823C>A	ENSP00000417601:p.Thr144Lys		Somatic				FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538181.1_Missense_Mutation_p.T60K|FBXL2_ENST00000538892.1_Intron|FBXL2_ENST00000507198.1_Intron|FBXL2_ENST00000542085.1_5'UTR	p.T144K	NM_012157.3	NP_036289.3	WXS	Illumina GAIIx	Phase_I	Q9UKC9	FBXL2_HUMAN			7	522	+			144						Missense_Mutation	SNP	ENST00000484457.1	37	c.431C>A	CCDS2658.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.975025	0.92919	.	.	ENSG00000153558	ENST00000484457;ENST00000538181	T;T	0.29655	1.56;1.56	5.18	5.18	0.71444	.	0.147402	0.64402	D	0.000013	T	0.64583	0.2611	M	0.90922	3.16	0.80722	D	1	D;D;P	0.60575	0.988;0.98;0.955	D;P;P	0.65323	0.934;0.833;0.707	T	0.72811	-0.4180	10	0.87932	D	0	.	19.649	0.95793	0.0:1.0:0.0:0.0	.	60;39;144	B4E1B8;B4DMM3;Q9UKC9	.;.;FBXL2_HUMAN	K	144;60	ENSP00000417601:T144K;ENSP00000440794:T60K	ENSP00000417601:T144K	T	+	2	0	FBXL2	33389827	1.000000	0.71417	0.937000	0.37676	0.994000	0.84299	4.934000	0.63491	2.816000	0.96949	0.644000	0.83932	ACA		0.428	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157		17	243	17	243	---	---	---	---
SMARCA5	8467	broad.mit.edu	37	4	144449073	144449073	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr4:144449073C>T	ENST00000283131.3	+	7	1316	c.854C>T	c.(853-855)aCa>aTa	p.T285I		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	285	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					GTATGTGTAACATCTTATGAA	0.323																																						ENST00000283131.3																		EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(853-855)aCa>aTa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5							118.0	118.0	118.0					4																	144449073		2203	4299	6502	SO:0001583	missense	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144449073C>T	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.854C>T	4.37:g.144449073C>T	ENSP00000283131:p.Thr285Ile		Somatic					p.T285I	NM_003601.3	NP_003592.3	WXS	Illumina GAIIx	Phase_I	O60264	SMCA5_HUMAN			7	1316	+	all_hematologic(180;0.158)		285			Helicase ATP-binding.			Missense_Mutation	SNP	ENST00000283131.3	37	c.854C>T	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040295	0.93630	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.95412	-3.7	5.85	5.85	0.93711	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98030	0.9351	M	0.85777	2.775	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	D	0.98335	1.0535	10	0.87932	D	0	-3.736	20.1766	0.98178	0.0:1.0:0.0:0.0	.	285	O60264	SMCA5_HUMAN	I	285;228;228	ENSP00000283131:T285I	ENSP00000283131:T285I	T	+	2	0	SMARCA5	144668523	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.725000	0.84808	2.772000	0.95346	0.655000	0.94253	ACA		0.323	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			18	44	18	44	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155253865	155253865	+	Silent	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr4:155253865G>A	ENST00000357232.4	-	9	1997	c.1998C>T	c.(1996-1998)ccC>ccT	p.P666P	DCHS2_ENST00000339452.1_Silent_p.P1165P|DCHS2_ENST00000507542.1_5'Flank	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	666	Cadherin 5. {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(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)		ATCCGTCCTCGGGGATCCAAG	0.443																																						ENST00000357232.4																			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.(1996-1998)ccC>ccT		dachsous cadherin-related 2							91.0	97.0	95.0					4																	155253865		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155253865G>A	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.1998C>T	4.37:g.155253865G>A			Somatic				DCHS2_ENST00000339452.1_Silent_p.P1165P	p.P666P	NM_017639.3	NP_060109.2	WXS	Illumina GAIIx	Phase_I	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1997	-	all_hematologic(180;0.208)	Renal(120;0.0854)				Cadherin 5.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.1998C>T	CCDS3785.1																																																																																				0.443	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		7	148	7	148	---	---	---	---
DDX60	55601	broad.mit.edu	37	4	169227602	169227602	+	Silent	SNP	T	T	C			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr4:169227602T>C	ENST00000393743.3	-	5	825	c.534A>G	c.(532-534)caA>caG	p.Q178Q		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	178					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CATCAGATTCTTGCCCTGAGG	0.398																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(532-534)caA>caG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							87.0	88.0	88.0					4																	169227602		2203	4300	6503	SO:0001819	synonymous_variant	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169227602T>C	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.534A>G	4.37:g.169227602T>C			Somatic					p.Q178Q	NM_017631.5	NP_060101.3	WXS	Illumina GAIIx	Phase_I	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	5	825	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	178					Q6PK35|Q9NVE3	Silent	SNP	ENST00000393743.3	37	c.534A>G	CCDS34097.1																																																																																				0.398	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		6	47	6	47	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33630978	33630978	+	Silent	SNP	C	C	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr5:33630978C>T	ENST00000504830.1	-	13	2264	c.1929G>A	c.(1927-1929)caG>caA	p.Q643Q	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Intron	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	643	Cys-rich.				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						TCTCAGAAAACTGGCCATCTA	0.463										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.(1927-1929)caG>caA		ADAM metallopeptidase with thrombospondin type 1 motif, 12							104.0	104.0	104.0					5																	33630978		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33630978C>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.1929G>A	5.37:g.33630978C>T		HNSCC(64;0.19)	Somatic				ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Intron	p.Q643Q	NM_030955.2	NP_112217.2	WXS	Illumina GAIIx	Phase_I	P58397	ATS12_HUMAN			13	2264	-			643			Cys-rich.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.1929G>A	CCDS34140.1																																																																																				0.463	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		8	48	8	48	---	---	---	---
CXXC5	51523	broad.mit.edu	37	5	139060933	139060933	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr5:139060933C>A	ENST00000302517.3	+	2	1539	c.825C>A	c.(823-825)tgC>tgA	p.C275*	CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Nonsense_Mutation_p.C275*	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	275					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCAACTGCGAGCAGTGCA	0.567																																						ENST00000302517.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12						c.(823-825)tgC>tgA		CXXC finger protein 5							68.0	79.0	75.0					5																	139060933		2018	4167	6185	SO:0001587	stop_gained	51523				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr5:139060933C>A	AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"""retinoid-inducible nuclear factor"", ""WT1-induced Inhibitor of Dishevelled"""	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.825C>A	5.37:g.139060933C>A	ENSP00000302543:p.Cys275*		Somatic				CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Nonsense_Mutation_p.C275*	p.C275*	NM_016463.7	NP_057547.5	WXS	Illumina GAIIx	Phase_I	Q7LFL8	CXXC5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	1539	+			275					B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Nonsense_Mutation	SNP	ENST00000302517.3	37	c.825C>A	CCDS43370.1	.	.	.	.	.	.	.	.	.	.	C	42	9.494402	0.99187	.	.	ENSG00000171604	ENST00000302517;ENST00000511048	.	.	.	5.05	3.24	0.37175	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.6052	8.3856	0.32499	0.0:0.6906:0.0:0.3094	.	.	.	.	X	275	.	ENSP00000302543:C275X	C	+	3	2	CXXC5	139041117	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.654000	0.24918	0.510000	0.28216	0.511000	0.50034	TGC		0.567	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372744.1	NM_016463		3	109	3	109	---	---	---	---
OR2H2	7932	broad.mit.edu	37	6	29555896	29555896	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr6:29555896T>G	ENST00000383640.2	+	1	214	c.175T>G	c.(175-177)Ttt>Gtt	p.F59V	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	59					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	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)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						TCCAATGTACTTTTTCCTCTC	0.527																																						ENST00000383640.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(175-177)Ttt>Gtt		olfactory receptor, family 2, subfamily H, member 2							213.0	180.0	192.0					6																	29555896		1511	2709	4220	SO:0001583	missense	7932				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29555896T>G		CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.175T>G	6.37:g.29555896T>G	ENSP00000373136:p.Phe59Val		Somatic				GABBR1_ENST00000355973.3_Intron	p.F59V	NM_007160.3	NP_009091.3	WXS	Illumina GAIIx	Phase_I	O95918	OR2H2_HUMAN			1	214	+			59					Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	SNP	ENST00000383640.2	37	c.175T>G	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.301950	0.60195	.	.	ENSG00000204657	ENST00000383640	T	0.00555	6.63	4.32	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42172	D	0.000753	T	0.00552	0.0018	H	0.95043	3.615	0.26401	N	0.976416	P	0.41624	0.757	B	0.39185	0.293	T	0.39563	-0.9608	10	0.72032	D	0.01	.	9.2177	0.37358	0.1627:0.0:0.0:0.8373	.	59	O95918	OR2H2_HUMAN	V	59	ENSP00000373136:F59V	ENSP00000373136:F59V	F	+	1	0	OR2H2	29663875	0.996000	0.38824	0.999000	0.59377	0.993000	0.82548	1.084000	0.30828	0.673000	0.31224	0.477000	0.44152	TTT		0.527	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2			15	108	15	108	---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64404530	64404530	+	Silent	SNP	G	G	A	rs141874226		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr6:64404530G>A	ENST00000262043.3	+	6	2896	c.2556G>A	c.(2554-2556)caG>caA	p.Q852Q	PHF3_ENST00000393387.1_Silent_p.Q852Q			Q92576	PHF3_HUMAN	PHD finger protein 3	852					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAAAATGGCAGCTAGCTCCTC	0.363																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(2554-2556)caG>caA		PHD finger protein 3		G		1,4401	2.1+/-5.4	0,1,2200	105.0	118.0	114.0		2556	-0.8	1.0	6	dbSNP_134	114	0,8600		0,0,4300	no	coding-synonymous	PHF3	NM_015153.2		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		852/2040	64404530	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64404530G>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2556G>A	6.37:g.64404530G>A			Somatic				PHF3_ENST00000393387.1_Silent_p.Q852Q	p.Q852Q			WXS	Illumina GAIIx	Phase_I	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		6	2896	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		852					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	37	c.2556G>A	CCDS4966.1																																																																																				0.363	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			3	171	3	171	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100681323	100681323	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr7:100681323G>A	ENST00000306151.4	+	3	6690	c.6626G>A	c.(6625-6627)aGc>aAc	p.S2209N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2209	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)					GAAGGTACCAGCATGCCAACC	0.498																																						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.(6625-6627)aGc>aAc		mucin 17, cell surface associated							331.0	327.0	328.0					7																	100681323		2203	4298	6501	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681323G>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.6626G>A	7.37:g.100681323G>A	ENSP00000302716:p.Ser2209Asn		Somatic					p.S2209N	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	6690	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2209			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.6626G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	1.413	-0.575097	0.03882	.	.	ENSG00000169876	ENST00000306151	T	0.02606	4.23	0.762	-1.52	0.08637	.	.	.	.	.	T	0.01695	0.0054	N	0.14661	0.345	0.09310	N	1	B	0.20261	0.043	B	0.12156	0.007	T	0.48490	-0.9031	9	0.23302	T	0.38	.	5.6696	0.17715	0.0:0.3383:0.6616:0.0	.	2209	Q685J3	MUC17_HUMAN	N	2209	ENSP00000302716:S2209N	ENSP00000302716:S2209N	S	+	2	0	MUC17	100468043	0.000000	0.05858	0.015000	0.15790	0.016000	0.09150	-0.102000	0.10956	0.132000	0.18615	0.134000	0.15878	AGC		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		63	464	63	464	---	---	---	---
ADAM9	8754	broad.mit.edu	37	8	38880740	38880740	+	Silent	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr8:38880740G>A	ENST00000487273.2	+	9	888	c.810G>A	c.(808-810)ctG>ctA	p.L270L		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	270	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			ATGGAAACCTGATCAACATAG	0.413																																						ENST00000487273.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(808-810)ctG>ctA		ADAM metallopeptidase domain 9							167.0	151.0	156.0					8																	38880740		2203	4300	6503	SO:0001819	synonymous_variant	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38880740G>A	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.810G>A	8.37:g.38880740G>A			Somatic					p.L270L	NM_003816.2	NP_003807.1	WXS	Illumina GAIIx	Phase_I	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		9	888	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	270			Peptidase M12B.		B7ZLN7|Q10718|Q8NFM6	Silent	SNP	ENST00000487273.2	37	c.810G>A	CCDS6112.1																																																																																				0.413	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			5	94	5	94	---	---	---	---
COL27A1	85301	broad.mit.edu	37	9	116968050	116968050	+	Silent	SNP	A	A	G			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr9:116968050A>G	ENST00000356083.3	+	9	2572	c.2181A>G	c.(2179-2181)ggA>ggG	p.G727G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	727	Collagen-like 2.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGCAGCCAGGACCTGAGGGCA	0.587																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(2179-2181)ggA>ggG		collagen, type XXVII, alpha 1							66.0	72.0	70.0					9																	116968050		2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116968050A>G	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2181A>G	9.37:g.116968050A>G			Somatic					p.G727G	NM_032888.2	NP_116277.2	WXS	Illumina GAIIx	Phase_I	Q8IZC6	CORA1_HUMAN			9	2572	+			727			Collagen-like 2.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.2181A>G	CCDS6802.1																																																																																				0.587	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		22	55	22	55	---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587340	55587340	+	Missense_Mutation	SNP	G	G	A	rs142474714		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:55587340G>A	ENST00000333976.4	+	1	255	c.235G>A	c.(235-237)Gct>Act	p.A79T		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A79S(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CTCCATCATTGCTCCCAAGAT	0.408																																						ENST00000333976.4																			1	Substitution - Missense(1)	p.A79S(1)	lung(1)	NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(235-237)Gct>Act		olfactory receptor, family 5, subfamily D, member 18							242.0	232.0	235.0					11																	55587340		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587340G>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.235G>A	11.37:g.55587340G>A	ENSP00000335025:p.Ala79Thr		Somatic					p.A79T	NM_001001952.1	NP_001001952.1	WXS	Illumina GAIIx	Phase_I	Q8NGL1	OR5DI_HUMAN			1	255	+		all_epithelial(135;0.208)	79					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.235G>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	1.279	-0.610959	0.03690	.	.	ENSG00000186119	ENST00000333976	T	0.01197	5.19	4.94	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	0.620209	0.13471	N	0.385440	T	0.00524	0.0017	N	0.01817	-0.705	0.09310	N	0.999998	B	0.06786	0.001	B	0.10450	0.005	T	0.43327	-0.9398	10	0.02654	T	1	-8.9258	7.9752	0.30151	0.257:0.0:0.743:0.0	.	79	Q8NGL1	OR5DI_HUMAN	T	79	ENSP00000335025:A79T	ENSP00000335025:A79T	A	+	1	0	OR5D18	55343916	0.000000	0.05858	0.856000	0.33681	0.834000	0.47266	-0.625000	0.05534	1.232000	0.43678	0.632000	0.83419	GCT		0.408	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		17	218	17	218	---	---	---	---
ZP1	22917	broad.mit.edu	37	11	60640728	60640728	+	Silent	SNP	C	C	T	rs151198562		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:60640728C>T	ENST00000278853.5	+	7	1206	c.1206C>T	c.(1204-1206)ccC>ccT	p.P402P		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	402	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)		p.P402P(1)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGACCCAGCCCGGCCCCCTGC	0.602																																						ENST00000278853.5																			1	Substitution - coding silent(1)	p.P402P(1)	large_intestine(1)	breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1204-1206)ccC>ccT		zona pellucida glycoprotein 1 (sperm receptor)																																				SO:0001819	synonymous_variant	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60640728C>T	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.1206C>T	11.37:g.60640728C>T			Somatic					p.P402P	NM_207341.2	NP_997224.2	WXS	Illumina GAIIx	Phase_I	P60852	ZP1_HUMAN			7	1206	+			402			ZP.			Silent	SNP	ENST00000278853.5	37	c.1206C>T	CCDS31572.1																																																																																				0.602	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		33	184	33	184	---	---	---	---
DHCR7	1717	broad.mit.edu	37	11	71153385	71153385	+	Silent	SNP	C	C	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:71153385C>A	ENST00000355527.3	-	5	612	c.336G>T	c.(334-336)acG>acT	p.T112T	DHCR7_ENST00000407721.2_Silent_p.T112T	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	112					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						CAGGGAGAGACGTGTACAGAA	0.587									Smith-Lemli-Opitz syndrome																													ENST00000355527.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						c.(334-336)acG>acT		7-dehydrocholesterol reductase	NADH(DB00157)						90.0	81.0	84.0					11																	71153385		2200	4294	6494	SO:0001819	synonymous_variant	1717	Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71153385C>A	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.336G>T	11.37:g.71153385C>A			Somatic				DHCR7_ENST00000407721.2_Silent_p.T112T	p.T112T	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	WXS	Illumina GAIIx	Phase_I	Q9UBM7	DHCR7_HUMAN			5	612	-			112					B2R6Z2|O60492|O60717	Silent	SNP	ENST00000355527.3	37	c.336G>T	CCDS8200.1																																																																																				0.587	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		5	25	5	25	---	---	---	---
SCN2B	6327	broad.mit.edu	37	11	118039353	118039353	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:118039353G>A	ENST00000278947.5	-	2	425	c.184C>T	c.(184-186)Cag>Tag	p.Q62*		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	62	Ig-like C2-type.				cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGGAGAACTGTTTGTGGTTC	0.592																																						ENST00000278947.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7						c.(184-186)Cag>Tag		sodium channel, voltage-gated, type II, beta subunit							234.0	219.0	224.0					11																	118039353		2200	4296	6496	SO:0001587	stop_gained	6327				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr11:118039353G>A	AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10589	protein-coding gene	gene with protein product		601327	"""sodium channel, voltage-gated, type II, beta polypeptide"", ""sodium channel, voltage-gated, type II, beta"""			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.184C>T	11.37:g.118039353G>A	ENSP00000278947:p.Gln62*		Somatic					p.Q62*	NM_004588.4	NP_004579.1	WXS	Illumina GAIIx	Phase_I	O60939	SCN2B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	2	425	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	62			Ig-like C2-type.		O75302|Q9UNN3	Nonsense_Mutation	SNP	ENST00000278947.5	37	c.184C>T	CCDS8390.1	.	.	.	.	.	.	.	.	.	.	G	37	6.084050	0.97267	.	.	ENSG00000149575	ENST00000278947	.	.	.	4.83	4.83	0.62350	.	0.347798	0.30630	N	0.009211	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-13.0014	16.8651	0.86027	0.0:0.0:1.0:0.0	.	.	.	.	X	62	.	ENSP00000278947:Q62X	Q	-	1	0	SCN2B	117544563	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	3.635000	0.54309	2.486000	0.83907	0.655000	0.94253	CAG		0.592	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109748.2	NM_004588		7	348	7	348	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39357215	39357215	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr13:39357215G>T	ENST00000280481.7	+	5	5866	c.5650G>T	c.(5650-5652)Gtg>Ttg	p.V1884L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1884	Calx-beta 2.				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)		AGAGCCAACTGTGTTTATTCC	0.408																																						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.(5650-5652)Gtg>Ttg		FRAS1 related extracellular matrix protein 2							195.0	193.0	194.0					13																	39357215		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39357215G>T	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.5650G>T	13.37:g.39357215G>T	ENSP00000280481:p.Val1884Leu		Somatic					p.V1884L	NM_207361.4	NP_997244.3	WXS	Illumina GAIIx	Phase_I	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)	5	5866	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1884			Calx-beta 2.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.5650G>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938710	0.52972	.	.	ENSG00000150893	ENST00000280481	T	0.34472	1.36	5.98	5.98	0.97165	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54689	-0.8256	10	0.30078	T	0.28	.	20.4464	0.99123	0.0:0.0:1.0:0.0	.	1884	Q5SZK8	FREM2_HUMAN	L	1884	ENSP00000280481:V1884L	ENSP00000280481:V1884L	V	+	1	0	FREM2	38255215	1.000000	0.71417	0.947000	0.38551	0.206000	0.24218	9.869000	0.99810	2.838000	0.97847	0.514000	0.50259	GTG		0.408	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		4	120	4	120	---	---	---	---
OLFM4	10562	broad.mit.edu	37	13	53624777	53624777	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr13:53624777C>G	ENST00000219022.2	+	5	1482	c.1404C>G	c.(1402-1404)gaC>gaG	p.D468E		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	468	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				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)		GCAAACTAGACATTGTAATGC	0.383																																						ENST00000219022.2																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39						c.(1402-1404)gaC>gaG		olfactomedin 4							114.0	112.0	112.0					13																	53624777		2203	4300	6503	SO:0001583	missense	10562				cell adhesion	extracellular space		g.chr13:53624777C>G	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.1404C>G	13.37:g.53624777C>G	ENSP00000219022:p.Asp468Glu		Somatic					p.D468E	NM_006418.4	NP_006409.3	WXS	Illumina GAIIx	Phase_I	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	5	1482	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	468			Olfactomedin-like.		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	c.1404C>G	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942955	0.53079	.	.	ENSG00000102837	ENST00000219022	D	0.88741	-2.42	5.64	0.888	0.19206	Olfactomedin-like (3);	2.241280	0.02182	N	0.060531	T	0.81163	0.4765	N	0.25992	0.78	0.09310	N	0.999997	B	0.06786	0.001	B	0.15052	0.012	T	0.63116	-0.6709	10	0.31617	T	0.26	.	2.5717	0.04796	0.1175:0.4777:0.129:0.2758	.	468	Q6UX06	OLFM4_HUMAN	E	468	ENSP00000219022:D468E	ENSP00000219022:D468E	D	+	3	2	OLFM4	52522778	0.000000	0.05858	0.008000	0.14137	0.742000	0.42306	-0.451000	0.06795	0.044000	0.15775	0.585000	0.79938	GAC		0.383	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		21	33	21	33	---	---	---	---
RLTPR	146206	broad.mit.edu	37	16	67685160	67685160	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr16:67685160G>A	ENST00000334583.6	+	23	2583	c.2255G>A	c.(2254-2256)gGt>gAt	p.G752D	RLTPR_ENST00000545661.1_Missense_Mutation_p.G716D	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	752					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGGCCCCAGGGTGAAGCCGCT	0.602																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(2254-2256)gGt>gAt		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							53.0	60.0	58.0					16																	67685160		2148	4257	6405	SO:0001583	missense	146206							g.chr16:67685160G>A	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.2255G>A	16.37:g.67685160G>A	ENSP00000334958:p.Gly752Asp		Somatic				RLTPR_ENST00000545661.1_Missense_Mutation_p.G716D	p.G752D	NM_001013838.1	NP_001013860.1	WXS	Illumina GAIIx	Phase_I	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	23	2583	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	752					B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.2255G>A	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781927	0.70222	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.13307	2.6;2.6	5.49	3.37	0.38596	.	0.241748	0.34314	N	0.004064	T	0.26048	0.0635	L	0.50333	1.59	0.36998	D	0.895126	D;D	0.71674	0.996;0.998	P;P	0.61874	0.806;0.895	T	0.10823	-1.0613	10	0.36615	T	0.2	-11.7808	12.8373	0.57780	0.0:0.3133:0.6867:0.0	.	716;752	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	D	752;716	ENSP00000334958:G752D;ENSP00000441481:G716D	ENSP00000334958:G752D	G	+	2	0	RLTPR	66242661	0.998000	0.40836	1.000000	0.80357	0.833000	0.47200	0.452000	0.21795	1.282000	0.44496	0.563000	0.77884	GGT		0.602	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		5	60	5	60	---	---	---	---
ASIC2	40	broad.mit.edu	37	17	31355331	31355331	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr17:31355331G>A	ENST00000359872.6	-	4	1675	c.914C>T	c.(913-915)aCc>aTc	p.T305I	ASIC2_ENST00000225823.2_Missense_Mutation_p.T356I|ASIC2_ENST00000448983.1_5'UTR	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	305					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	CCTACAGGCGGTGATGCTGTA	0.582																																						ENST00000225823.2																			0											c.(1066-1068)aCc>aTc		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)						70.0	68.0	68.0					17																	31355331		2203	4300	6503	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31355331G>A	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.914C>T	17.37:g.31355331G>A	ENSP00000352934:p.Thr305Ile		Somatic				ASIC2_ENST00000359872.6_Missense_Mutation_p.T305I|ASIC2_ENST00000448983.1_5'UTR	p.T356I	NM_183377.1	NP_899233.1	WXS	Illumina GAIIx	Phase_I	Q16515	ACCN1_HUMAN			4	1939	-			305					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.1067C>T	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	G	31	5.102794	0.94245	.	.	ENSG00000108684	ENST00000225823;ENST00000359872;ENST00000448983	T;T	0.65178	-0.14;-0.14	5.56	5.56	0.83823	Na+ channel, amiloride-sensitive, conserved site (1);	0.172981	0.50627	D	0.000104	T	0.75250	0.3824	L	0.50919	1.6	0.51482	D	0.999924	D;P	0.76494	0.999;0.848	D;P	0.85130	0.997;0.848	T	0.76258	-0.3025	10	0.52906	T	0.07	-21.143	17.0263	0.86447	0.0:0.0:1.0:0.0	.	305;356	Q16515;E9PBX2	ACCN1_HUMAN;.	I	356;305;111	ENSP00000225823:T356I;ENSP00000352934:T305I	ENSP00000225823:T356I	T	-	2	0	ACCN1	28379444	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.892000	0.87324	2.112000	0.64535	0.482000	0.46254	ACC		0.582	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		3	64	3	64	---	---	---	---
ZNF652	22834	broad.mit.edu	37	17	47394309	47394309	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr17:47394309A>G	ENST00000362063.2	-	2	1097	c.779T>C	c.(778-780)cTg>cCg	p.L260P	ZNF652_ENST00000430262.2_Missense_Mutation_p.L260P	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			GTGCTTCTCCAGGTACCAGCG	0.478																																						ENST00000362063.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(778-780)cTg>cCg		zinc finger protein 652							175.0	148.0	157.0					17																	47394309		2203	4300	6503	SO:0001583	missense	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47394309A>G	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.779T>C	17.37:g.47394309A>G	ENSP00000354686:p.Leu260Pro		Somatic				ZNF652_ENST00000430262.2_Missense_Mutation_p.L260P	p.L260P	NM_014897.2	NP_055712.1	WXS	Illumina GAIIx	Phase_I	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		2	1097	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		260					A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	c.779T>C	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578130	0.65878	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.75260	-0.92;-0.92	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	D	0.88945	0.6575	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91406	0.5147	10	0.87932	D	0	-10.5087	15.4338	0.75125	1.0:0.0:0.0:0.0	.	260	Q9Y2D9	ZN652_HUMAN	P	260	ENSP00000354686:L260P;ENSP00000416305:L260P	ENSP00000354686:L260P	L	-	2	0	ZNF652	44749308	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.132000	0.65825	0.533000	0.62120	CTG		0.478	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		10	59	10	59	---	---	---	---
GPR108	56927	broad.mit.edu	37	19	6731293	6731293	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:6731293C>A	ENST00000264080.7	-	16	1377	c.1351G>T	c.(1351-1353)Gtc>Ttc	p.V451F	GPR108_ENST00000598626.1_5'UTR|GPR108_ENST00000430424.4_Splice_Site_p.V209F	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	451						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TAGCAGATGACCTGCAGGGGC	0.677																																						ENST00000264080.7																			0				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						c.(1351-1353)Gtc>Ttc		G protein-coupled receptor 108							36.0	41.0	39.0					19																	6731293		2166	4261	6427	SO:0001630	splice_region_variant	56927					integral to membrane		g.chr19:6731293C>A		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.1351-1G>T	19.37:g.6731293C>A			Somatic				GPR108_ENST00000598626.1_5'UTR|GPR108_ENST00000430424.4_Splice_Site_p.V209F	p.V451F	NM_001080452.1	NP_001073921.1	WXS	Illumina GAIIx	Phase_I	Q9NPR9	GP108_HUMAN			16	1377	-			451					B9EJD7	Splice_Site	SNP	ENST00000264080.7	37	c.1351G>T	CCDS42479.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344720	0.41498	.	.	ENSG00000125734	ENST00000548402;ENST00000264080;ENST00000430424	T	0.29142	1.58	3.79	-0.576	0.11731	.	0.438758	0.20536	U	0.090408	T	0.26195	0.0639	L	0.59436	1.845	0.40634	D	0.98188	B	0.27068	0.167	B	0.30572	0.117	T	0.06789	-1.0807	10	0.49607	T	0.09	-26.4156	6.2928	0.21069	0.0:0.329:0.0:0.671	.	451	Q9NPR9	GP108_HUMAN	F	43;451;209	ENSP00000264080:V451F	ENSP00000264080:V451F	V	-	1	0	GPR108	6682293	1.000000	0.71417	0.824000	0.32777	0.092000	0.18411	1.868000	0.39509	0.053000	0.16036	0.305000	0.20034	GTC		0.677	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2		Missense_Mutation	9	44	9	44	---	---	---	---
HAO1	54363	broad.mit.edu	37	20	7875791	7875791	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr20:7875791C>T	ENST00000378789.3	-	5	853	c.802G>A	c.(802-804)Gtg>Atg	p.V268M		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	268	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTGGCTGGCACCCCATCGAGT	0.488																																						ENST00000378789.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(802-804)Gtg>Atg		hydroxyacid oxidase (glycolate oxidase) 1							124.0	117.0	119.0					20																	7875791		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7875791C>T	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.802G>A	20.37:g.7875791C>T	ENSP00000368066:p.Val268Met		Somatic					p.V268M	NM_017545.2	NP_060015.1	WXS	Illumina GAIIx	Phase_I	Q9UJM8	HAOX1_HUMAN			5	853	-			268			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.802G>A	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930394	0.92389	.	.	ENSG00000101323	ENST00000378789	T	0.30182	1.54	5.97	5.97	0.96955	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.55114	0.1900	M	0.72894	2.215	0.80722	D	1	P;P	0.37423	0.594;0.594	P;P	0.53035	0.716;0.716	T	0.50931	-0.8769	10	0.72032	D	0.01	-24.99	20.4388	0.99107	0.0:1.0:0.0:0.0	.	268;268	A8K058;Q9UJM8	.;HAOX1_HUMAN	M	268	ENSP00000368066:V268M	ENSP00000368066:V268M	V	-	1	0	HAO1	7823791	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.530000	0.67141	2.836000	0.97738	0.655000	0.94253	GTG		0.488	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			35	107	35	107	---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34150170	34150170	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chrX:34150170A>T	ENST00000346193.3	-	1	277	c.226T>A	c.(226-228)Ttt>Att	p.F76I		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	76										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						GGGAGTAAAAACTCGTCACGG	0.532																																						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.(226-228)Ttt>Att		family with sequence similarity 47, member A							90.0	86.0	87.0					X																	34150170		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34150170A>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.226T>A	X.37:g.34150170A>T	ENSP00000345029:p.Phe76Ile		Somatic					p.F76I	NM_203408.3	NP_981953.2	WXS	Illumina GAIIx	Phase_I	Q5JRC9	FA47A_HUMAN			1	277	-			76					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.226T>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	A	11.88	1.771508	0.31320	.	.	ENSG00000185448	ENST00000346193	T	0.19806	2.12	1.1	-1.53	0.08611	.	.	.	.	.	T	0.20861	0.0502	L	0.55481	1.735	0.09310	N	1	B	0.31680	0.335	B	0.38616	0.277	T	0.34527	-0.9825	9	0.59425	D	0.04	.	4.9947	0.14233	0.5975:0.4025:0.0:0.0	.	76	Q5JRC9	FA47A_HUMAN	I	76	ENSP00000345029:F76I	ENSP00000345029:F76I	F	-	1	0	FAM47A	34060091	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.520000	0.06252	-0.599000	0.05798	-0.691000	0.03719	TTT		0.532	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		7	28	7	28	---	---	---	---
GPRASP2	114928	broad.mit.edu	37	X	101972035	101972035	+	Silent	SNP	T	T	G			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chrX:101972035T>G	ENST00000535209.1	+	4	3069	c.2238T>G	c.(2236-2238)tcT>tcG	p.S746S	GPRASP2_ENST00000332262.5_Silent_p.S746S|GPRASP2_ENST00000543253.1_Silent_p.S746S			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	746						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TGAATTTGTCTGAAAATCCTG	0.368																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(2236-2238)tcT>tcG		G protein-coupled receptor associated sorting protein 2							81.0	80.0	80.0					X																	101972035		2203	4300	6503	SO:0001819	synonymous_variant	114928							g.chrX:101972035T>G	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.2238T>G	X.37:g.101972035T>G			Somatic				GPRASP2_ENST00000535209.1_Silent_p.S746S|GPRASP2_ENST00000332262.5_Silent_p.S746S	p.S746S	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1	WXS	Illumina GAIIx	Phase_I					5	3157	+								D3DXA0|Q8NAB4	Silent	SNP	ENST00000535209.1	37	c.2238T>G	CCDS14501.1																																																																																				0.368	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		5	53	5	53	---	---	---	---
