#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
LRP1B	53353	broad.mit.edu	37	2	141245239	141245239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr2:141245239G>A	ENST00000389484.3	-	58	10161	c.9190C>T	c.(9190-9192)Cga>Tga	p.R3064*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3064					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATTGGGTCGGCTAGAATCG	0.313										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(9190-9192)Cga>Tga		low density lipoprotein receptor-related protein 1B							93.0	95.0	94.0					2																	141245239		2203	4292	6495	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141245239G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9190C>T	2.37:g.141245239G>A	ENSP00000374135:p.Arg3064*	TSP Lung(27;0.18)					p.R3064*	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	58	10161	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3064					Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.9190C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	55	24.185479	0.99959	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.77	1.45	0.22620	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	9.9117	0.41411	0.0797:0.0:0.2109:0.7094	.	.	.	.	X	3064;3002	.	ENSP00000374135:R3064X	R	-	1	2	LRP1B	140961709	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.054000	0.49908	0.264000	0.21851	0.650000	0.86243	CGA		0.313	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		3	77	0	0	0	1	0	3	77				
KCNG1	3755	broad.mit.edu	37	20	49626483	49626483	+	Silent	SNP	C	C	T			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr20:49626483C>T	ENST00000371571.4	-	2	678	c.393G>A	c.(391-393)ctG>ctA	p.L131L	KCNG1_ENST00000396017.3_Silent_p.L131L|RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'Flank	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	131					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TGCCCGCGCGCAGGAAGGTCA	0.642																																						ENST00000371571.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(391-393)ctG>ctA		potassium voltage-gated channel, subfamily G, member 1							37.0	35.0	36.0					20																	49626483		2203	4299	6502	SO:0001819	synonymous_variant	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49626483C>T	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.393G>A	20.37:g.49626483C>T						KCNG1_ENST00000396017.3_Silent_p.L131L|RP5-955M13.4_ENST00000424566.1_RNA	p.L131L	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN			2	678	-			131					A8K3S4|O43528|Q5JXL5|Q9BRC1	Silent	SNP	ENST00000371571.4	37	c.393G>A	CCDS13436.1																																																																																				0.642	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		16	25	0	0	0	1	0	16	25				
ASB18	401036	broad.mit.edu	37	2	237150049	237150049	+	Intron	SNP	C	C	T	rs180959953		TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr2:237150049C>T	ENST00000409749.3	-	2	205				AC079135.1_ENST00000415226.1_RNA|ASB18_ENST00000330842.6_Missense_Mutation_p.A39T	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		AGGTCCCCTGCGACCAGGGCA	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		17429	0.0		0.001	False		,,,				2504	0.0					ENST00000330842.6																			0				large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6						c.(115-117)Gca>Aca		ankyrin repeat and SOCS box containing 18							70.0	70.0	70.0					2																	237150049		1951	4136	6087	SO:0001627	intron_variant	401036				intracellular signal transduction			g.chr2:237150049C>T	AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"""Ankyrin repeat domain containing"""	19770	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 18"""			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.206-4G>A	2.37:g.237150049C>T						AC079135.1_ENST00000415226.1_RNA|ASB18_ENST00000409749.3_Intron	p.A39T			Q6ZVZ8	ASB18_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)	1	209	-		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)	68					B6ZDL7	Missense_Mutation	SNP	ENST00000409749.3	37	c.115G>A	CCDS46548.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	2.166	-0.391019	0.04932	.	.	ENSG00000182177	ENST00000330842	T	0.52983	0.64	5.12	-1.08	0.09936	.	2.011390	0.02665	N	0.107892	T	0.33614	0.0869	.	.	.	0.09310	N	1	B	0.15719	0.014	B	0.04013	0.001	T	0.17684	-1.0361	8	.	.	.	.	10.1998	0.43075	0.0:0.4271:0.0:0.5729	.	39	Q6ZVZ8-2	.	T	39	ENSP00000329970:A39T	.	A	-	1	0	ASB18	236814788	0.000000	0.05858	0.014000	0.15608	0.057000	0.15508	-0.438000	0.06905	-0.478000	0.06823	-1.074000	0.02243	GCA		0.522	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	NM_212556		12	20	0	0	0	1	0	12	20				
NINJ1	4814	broad.mit.edu	37	9	95888798	95888798	+	Silent	SNP	G	G	A	rs372269819		TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr9:95888798G>A	ENST00000375446.4	-	2	268	c.198C>T	c.(196-198)gcC>gcT	p.A66A	NINJ1_ENST00000489274.1_5'Flank	NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN	ninjurin 1	66					cell adhesion (GO:0007155)|hyaloid vascular plexus regression (GO:1990384)|nervous system development (GO:0007399)|positive regulation of cell-matrix adhesion (GO:0001954)|tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						GTTCCACGACGGCCTTCAGCT	0.622																																						ENST00000375446.4																			0				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						c.(196-198)gcC>gcT		ninjurin 1		G		0,4406		0,0,2203	115.0	93.0	100.0		198	-0.7	1.0	9		100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NINJ1	NM_004148.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		66/153	95888798	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4814				cell adhesion|nervous system development|tissue regeneration	integral to membrane		g.chr9:95888798G>A	U91512	CCDS6703.1	9q22	2008-07-21			ENSG00000131669	ENSG00000131669			7824	protein-coding gene	gene with protein product	"""nerve injury-induced protein-1"""	602062				8780658	Standard	NM_004148		Approved	NIN1	uc004atg.4	Q92982	OTTHUMG00000020242	ENST00000375446.4:c.198C>T	9.37:g.95888798G>A							p.A66A	NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN			2	268	-			66					Q6GU89|Q8WUV5|Q9BT07	Silent	SNP	ENST00000375446.4	37	c.198C>T	CCDS6703.1																																																																																				0.622	NINJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053123.2	NM_004148		6	57	0	0	0	1	0	6	57				
TPO	7173	broad.mit.edu	37	2	1488493	1488493	+	Silent	SNP	C	C	T	rs202005839		TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr2:1488493C>T	ENST00000345913.4	+	9	1555	c.1464C>T	c.(1462-1464)gcC>gcT	p.A488A	TPO_ENST00000337415.3_Silent_p.A488A|TPO_ENST00000349624.3_Silent_p.A315A|TPO_ENST00000346956.3_Silent_p.A488A|TPO_ENST00000382201.3_Silent_p.A488A|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382198.1_Silent_p.A315A|TPO_ENST00000329066.4_Silent_p.A488A	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	488					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TCTCCACAGCCGCCTTCCGCT	0.662													c|||	1	0.000199681	0.0	0.0	5008	,	,		12743	0.001		0.0	False		,,,				2504	0.0					ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1462-1464)gcC>gcT		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						68.0	63.0	65.0					2																	1488493		2203	4300	6503	SO:0001819	synonymous_variant	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1488493C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1464C>T	2.37:g.1488493C>T						TPO_ENST00000497517.2_3'UTR|TPO_ENST00000337415.3_Silent_p.A488A|TPO_ENST00000382198.1_Silent_p.A315A|TPO_ENST00000382201.3_Silent_p.A488A|TPO_ENST00000349624.3_Silent_p.A315A|TPO_ENST00000346956.3_Silent_p.A488A|TPO_ENST00000329066.4_Silent_p.A488A	p.A488A	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	9	1555	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	488					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	c.1464C>T	CCDS1643.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	10.45	1.353489	0.24512	.	.	ENSG00000115705	ENST00000446278	.	.	.	5.3	-6.03	0.02185	.	.	.	.	.	T	0.39410	0.1077	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42498	-0.9448	4	.	.	.	-27.8273	4.284	0.10846	0.1637:0.1009:0.0854:0.65	.	.	.	.	L	20	.	.	P	+	2	0	TPO	1467500	0.000000	0.05858	0.959000	0.39883	0.887000	0.51463	-3.358000	0.00499	-0.854000	0.04131	-0.261000	0.10672	CCG		0.662	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		13	33	0	0	0	1	0	13	33				
EML4	27436	broad.mit.edu	37	2	42522547	42522547	+	Missense_Mutation	SNP	G	G	T			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr2:42522547G>T	ENST00000318522.5	+	13	1642	c.1380G>T	c.(1378-1380)caG>caT	p.Q460H	EML4_ENST00000401738.3_Missense_Mutation_p.Q471H|EML4_ENST00000402711.2_Missense_Mutation_p.Q402H	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	460					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						AATTTGTGCAGTGTTTAGCAT	0.358			T	ALK	NSCLC																																	ENST00000318522.5				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(543)	0				NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1378-1380)caG>caT		echinoderm microtubule associated protein like 4							128.0	133.0	131.0					2																	42522547		2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42522547G>T	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.1380G>T	2.37:g.42522547G>T	ENSP00000320663:p.Gln460His					EML4_ENST00000401738.3_Missense_Mutation_p.Q471H|EML4_ENST00000402711.2_Missense_Mutation_p.Q402H	p.Q460H	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN			13	1642	+			460					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.1380G>T	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380381	0.61845	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.56941	0.43;0.43;0.43	5.72	3.92	0.45320	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.53174	0.1780	N	0.16368	0.405	0.80722	D	1	B;D;D	0.76494	0.074;0.997;0.999	B;D;D	0.85130	0.032;0.975;0.997	T	0.46331	-0.9199	10	0.23302	T	0.38	-9.2649	11.6803	0.51453	0.1982:0.0:0.8018:0.0	.	402;471;460	B5MCW9;B5MBZ0;Q9HC35	.;.;EMAL4_HUMAN	H	460;402;471	ENSP00000320663:Q460H;ENSP00000385059:Q402H;ENSP00000384939:Q471H	ENSP00000320663:Q460H	Q	+	3	2	EML4	42376051	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.957000	0.40392	0.884000	0.36064	0.655000	0.94253	CAG		0.358	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		8	50	1	0	0.0692343	1	0.070351	8	50				
IGHV1-18	28468	broad.mit.edu	37	14	106641640	106641640	+	RNA	SNP	C	C	T			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr14:106641640C>T	ENST00000390605.2	-	0	332									immunoglobulin heavy variable 1-18																		GTGGATGTGTCTGTGGTCATG	0.542																																						ENST00000390605.2																			0																				199.0	197.0	197.0					14																	106641640		2136	4242	6378			0							g.chr14:106641640C>T	M99641		14q32.33	2012-02-08			ENSG00000211945	ENSG00000211945		"""Immunoglobulins / IGH locus"""	5549	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152276		14.37:g.106641640C>T														0	332	-									RNA	SNP	ENST00000390605.2	37																																																																																						0.542	IGHV1-18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325664.1	NG_001019		79	158	0	0	0	1	0	79	158				
FRG1B	284802	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	G	A	rs200267032		TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr20:29614328G>A	ENST00000278882.3	+	2	320		c.e2+1		FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.e2+1																																						SO:0001630	splice_region_variant	0							g.chr20:29614328G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.-61+1G>A	20.37:g.29614328G>A						FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site								2	320	+								C4AME5	Splice_Site	SNP	ENST00000278882.3	37																																																																																						0.289	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	Intron	3	17	0	0	0	1	0	3	17				
ABCA12	26154	broad.mit.edu	37	2	215866294	215866294	+	Missense_Mutation	SNP	C	C	T			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr2:215866294C>T	ENST00000272895.7	-	21	3070	c.2851G>A	c.(2851-2853)Gaa>Aaa	p.E951K	ABCA12_ENST00000389661.4_Missense_Mutation_p.E633K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	951					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCAAAGAGTTCGTTGCTTTTG	0.383																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(2851-2853)Gaa>Aaa		ATP-binding cassette, sub-family A (ABC1), member 12							182.0	175.0	178.0					2																	215866294		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215866294C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2851G>A	2.37:g.215866294C>T	ENSP00000272895:p.Glu951Lys					ABCA12_ENST00000389661.4_Missense_Mutation_p.E633K	p.E951K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	21	3070	-		Renal(323;0.127)	951					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.2851G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	9.110	1.006307	0.19199	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.86030	-2.06;-2.06	5.97	5.97	0.96955	.	0.245896	0.35646	N	0.003075	T	0.63212	0.2492	N	0.04746	-0.17	0.80722	D	1	P;B	0.40211	0.707;0.037	B;B	0.29440	0.102;0.021	T	0.67142	-0.5745	10	0.12103	T	0.63	.	10.9876	0.47530	0.0:0.8017:0.1295:0.0688	.	951;633	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	K	951;633	ENSP00000272895:E951K;ENSP00000374312:E633K	ENSP00000272895:E951K	E	-	1	0	ABCA12	215574539	0.997000	0.39634	1.000000	0.80357	0.874000	0.50279	3.595000	0.54016	2.838000	0.97847	0.561000	0.74099	GAA		0.383	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		5	96	0	0	0	1	0	5	96				
DHX16	8449	broad.mit.edu	37	6	30632730	30632730	+	Missense_Mutation	SNP	T	T	C			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr6:30632730T>C	ENST00000376442.3	-	7	1360	c.1165A>G	c.(1165-1167)Aaa>Gaa	p.K389E	DHX16_ENST00000376437.5_5'Flank	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	389					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						ATGGACTCTTTCTGCTGGGCC	0.552																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(1165-1167)Aaa>Gaa		DEAH (Asp-Glu-Ala-His) box polypeptide 16							50.0	52.0	52.0					6																	30632730		1511	2709	4220	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30632730T>C	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1165A>G	6.37:g.30632730T>C	ENSP00000365625:p.Lys389Glu						p.K389E	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			7	1360	-			389					O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.1165A>G	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.965990	0.53507	.	.	ENSG00000204560	ENST00000376442	T	0.02552	4.25	5.18	2.78	0.32641	.	0.178977	0.50627	D	0.000108	T	0.01661	0.0053	N	0.20610	0.595	0.80722	D	1	P;P	0.51653	0.947;0.774	P;P	0.58970	0.849;0.474	T	0.63778	-0.6560	10	0.25106	T	0.35	.	5.6776	0.17757	0.0:0.089:0.1733:0.7377	.	329;389	B4DZ28;O60231	.;DHX16_HUMAN	E	389	ENSP00000365625:K389E	ENSP00000365625:K389E	K	-	1	0	DHX16	30740709	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.757000	0.47557	0.789000	0.33779	0.402000	0.26972	AAA		0.552	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		15	22	0	0	0	1	0	15	22				
PTPRC	5788	broad.mit.edu	37	1	198725090	198725090	+	Missense_Mutation	SNP	G	G	A			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr1:198725090G>A	ENST00000367376.2	+	33	3866	c.3695G>A	c.(3694-3696)gGa>gAa	p.G1232E	PTPRC_ENST00000352140.3_Missense_Mutation_p.G1184E|PTPRC_ENST00000594404.1_Missense_Mutation_p.G1071E|PTPRC_ENST00000442510.2_Missense_Mutation_p.G1234E|PTPRC_ENST00000348564.6_Missense_Mutation_p.G1073E	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1232					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GCTCAGAATGGACAAGTAAAG	0.363																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(3694-3696)gGa>gAa		protein tyrosine phosphatase, receptor type, C							96.0	100.0	99.0					1																	198725090		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198725090G>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3695G>A	1.37:g.198725090G>A	ENSP00000356346:p.Gly1232Glu					PTPRC_ENST00000352140.3_Missense_Mutation_p.G1184E|PTPRC_ENST00000594404.1_Missense_Mutation_p.G1071E|PTPRC_ENST00000348564.6_Missense_Mutation_p.G1073E|PTPRC_ENST00000442510.2_Missense_Mutation_p.G1234E	p.G1232E	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			33	3866	+			1232					A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.3695G>A		.	.	.	.	.	.	.	.	.	.	G	26.1	4.707748	0.89018	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.03065	4.06	5.7	5.7	0.88788	.	0.000000	0.45606	D	0.000355	T	0.18882	0.0453	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.00024	-1.2327	10	0.87932	D	0	.	19.8349	0.96652	0.0:0.0:1.0:0.0	.	1073;1184;1232	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	E	1234;1184;1232;1071	ENSP00000193532:G1184E	ENSP00000306782:G1071E	G	+	2	0	PTPRC	196991713	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	8.670000	0.91168	2.691000	0.91804	0.557000	0.71058	GGA		0.363	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				24	44	0	0	0	1	0	24	44				
UGT1A10	54575	broad.mit.edu	37	2	234545792	234545792	+	Missense_Mutation	SNP	G	G	T	rs144759885	byFrequency	TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr2:234545792G>T	ENST00000344644.5	+	1	693	c.624G>T	c.(622-624)tgG>tgT	p.W208C	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.W208C	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	208					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	AGAGAGTATGGAACCACATCG	0.458																																						ENST00000344644.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32						c.(622-624)tgG>tgT									203.0	208.0	206.0					2																	234545792		2203	4300	6503	SO:0001583	missense	0							g.chr2:234545792G>T	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.624G>T	2.37:g.234545792G>T	ENSP00000343838:p.Trp208Cys					UGT1A10_ENST00000373445.1_Missense_Mutation_p.W208C|UGT1A8_ENST00000373450.4_Intron	p.W208C	NM_019075.2	NP_061948.1				Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	693	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	ENST00000344644.5	37	c.624G>T	CCDS33403.1	.	.	.	.	.	.	.	.	.	.	G	5.359	0.251540	0.10185	.	.	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.59224	0.28;0.28	3.52	2.6	0.31112	.	.	.	.	.	T	0.59662	0.2210	L	0.52266	1.64	0.37575	D	0.919596	D;D	0.54207	0.965;0.965	P;P	0.54544	0.755;0.755	T	0.63734	-0.6570	9	0.72032	D	0.01	.	6.9734	0.24662	0.1512:0.1611:0.6877:0.0	.	208;208	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	C	208	ENSP00000343838:W208C;ENSP00000362544:W208C	ENSP00000343838:W208C	W	+	3	0	UGT1A10	234210531	0.007000	0.16637	0.030000	0.17652	0.130000	0.20726	0.074000	0.14662	0.810000	0.34279	0.405000	0.27470	TGG		0.458	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		5	199	1	0	0.00116845	1	0.00122687	5	199				
RRAS	6237	broad.mit.edu	37	19	50138860	50138860	+	Silent	SNP	G	G	T			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr19:50138860G>T	ENST00000246792.3	-	6	732	c.630C>A	c.(628-630)ggC>ggA	p.G210G		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	210					axon guidance (GO:0007411)|negative regulation of cell migration (GO:0030336)|positive regulation of angiogenesis (GO:0045766)|Ras protein signal transduction (GO:0007265)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		GGCAGCCCCCGCCCTTCTTCC	0.617																																						ENST00000246792.3																			0				endometrium(1)|kidney(1)|lung(2)|ovary(2)	6						c.(628-630)ggC>ggA		related RAS viral (r-ras) oncogene homolog							67.0	73.0	71.0					19																	50138860		2203	4300	6503	SO:0001819	synonymous_variant	6237				axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding	g.chr19:50138860G>T		CCDS12774.1	19q13.33	2014-05-09				ENSG00000126458			10447	protein-coding gene	gene with protein product	"""Oncogene RRAS"""	165090				3098437	Standard	NM_006270		Approved		uc002pop.1	P10301		ENST00000246792.3:c.630C>A	19.37:g.50138860G>T							p.G210G	NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)	6	732	-			210					Q6FH12	Silent	SNP	ENST00000246792.3	37	c.630C>A	CCDS12774.1																																																																																				0.617	RRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465791.1	NM_006270		20	62	1	0	0.000229342	1	0.00024489	20	62				
HELB	92797	broad.mit.edu	37	12	66698594	66698594	+	Missense_Mutation	SNP	G	G	C			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr12:66698594G>C	ENST00000247815.4	+	2	330	c.271G>C	c.(271-273)Gta>Cta	p.V91L		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	91					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GAGAGTGAAGGTACAAGTAAA	0.378																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(271-273)Gta>Cta		helicase (DNA) B							155.0	150.0	152.0					12																	66698594		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66698594G>C	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.271G>C	12.37:g.66698594G>C	ENSP00000247815:p.Val91Leu						p.V91L	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	2	330	+			91					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.271G>C	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016661	0.35606	.	.	ENSG00000127311	ENST00000247815	T	0.17854	2.25	4.87	3.97	0.46021	.	0.384986	0.24128	N	0.041298	T	0.15652	0.0377	L	0.45228	1.405	0.30282	N	0.791232	B	0.17465	0.022	B	0.14578	0.011	T	0.07290	-1.0780	9	.	.	.	-10.5064	13.7107	0.62667	0.0:0.295:0.705:0.0	.	91	Q8NG08	HELB_HUMAN	L	91	ENSP00000247815:V91L	.	V	+	1	0	HELB	64984861	1.000000	0.71417	0.915000	0.36163	0.755000	0.42902	2.245000	0.43133	1.033000	0.39918	0.455000	0.32223	GTA		0.378	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			12	66	0	0	0	1	0	12	66				
MCM6	4175	broad.mit.edu	37	2	136623784	136623784	+	Missense_Mutation	SNP	C	C	T			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr2:136623784C>T	ENST00000264156.2	-	6	905	c.845G>A	c.(844-846)cGa>cAa	p.R282Q	MCM6_ENST00000492091.1_5'Flank	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	282					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		CCGGAGTCCTCGAATGCCTTC	0.488																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(844-846)cGa>cAa		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						168.0	159.0	162.0					2																	136623784		2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136623784C>T		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.845G>A	2.37:g.136623784C>T	ENSP00000264156:p.Arg282Gln						p.R282Q	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	6	905	-			282					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.845G>A	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387329	0.61956	.	.	ENSG00000076003	ENST00000264156	T	0.03124	4.04	6.04	5.17	0.71159	.	0.112873	0.64402	D	0.000012	T	0.03477	0.0100	L	0.31664	0.95	0.49687	D	0.99981	B	0.22003	0.063	B	0.16722	0.016	T	0.51148	-0.8742	10	0.24483	T	0.36	-9.055	10.8455	0.46741	0.0:0.8014:0.1314:0.0672	.	282	Q14566	MCM6_HUMAN	Q	282	ENSP00000264156:R282Q	ENSP00000264156:R282Q	R	-	2	0	MCM6	136340254	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	3.724000	0.54962	1.565000	0.49641	0.563000	0.77884	CGA		0.488	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		15	95	0	0	0	1	0	15	95				
MYO10	4651	broad.mit.edu	37	5	16671017	16671017	+	Missense_Mutation	SNP	C	C	A			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr5:16671017C>A	ENST00000513610.1	-	39	5955	c.5501G>T	c.(5500-5502)cGa>cTa	p.R1834L	MYO10_ENST00000427430.2_Missense_Mutation_p.R1191L|MYO10_ENST00000274203.9_Missense_Mutation_p.R1191L|MYO10_ENST00000515803.1_Missense_Mutation_p.R1173L|MYO10_ENST00000505695.1_Missense_Mutation_p.R1173L	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1834	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ATACTGGAGTCGCAGGGCAGC	0.567																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(5500-5502)cGa>cTa		myosin X							39.0	45.0	43.0					5																	16671017		2020	4186	6206	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16671017C>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5501G>T	5.37:g.16671017C>A	ENSP00000421280:p.Arg1834Leu					MYO10_ENST00000427430.2_Missense_Mutation_p.R1191L|MYO10_ENST00000515803.1_Missense_Mutation_p.R1173L|MYO10_ENST00000274203.9_Missense_Mutation_p.R1191L|MYO10_ENST00000505695.1_Missense_Mutation_p.R1173L	p.R1834L	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			39	5955	-			1834			FERM.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.5501G>T	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635418	0.87760	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	5.52	5.52	0.82312	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	D	0.89354	0.6691	M	0.85542	2.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.87783	0.2613	9	0.32370	T	0.25	.	19.4559	0.94889	0.0:1.0:0.0:0.0	.	713;1474;1834	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	L	1834;1173;1191;1173;1191	ENSP00000421280:R1834L;ENSP00000425051:R1173L;ENSP00000274203:R1191L;ENSP00000421170:R1173L;ENSP00000391106:R1191L	ENSP00000274203:R1191L	R	-	2	0	MYO10	16724017	1.000000	0.71417	0.998000	0.56505	0.467000	0.32768	7.781000	0.85668	2.586000	0.87340	0.563000	0.77884	CGA		0.567	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		6	18	1	0	1.6384e-10	1	1.81086e-10	6	18				
IFIT5	24138	broad.mit.edu	37	10	91177745	91177745	+	Missense_Mutation	SNP	T	T	A			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr10:91177745T>A	ENST00000371795.4	+	2	1002	c.789T>A	c.(787-789)aaT>aaA	p.N263K	IFIT5_ENST00000416601.1_Missense_Mutation_p.N215K	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	263					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						GGAGAAAAAATTCCTGGAACA	0.433																																						ENST00000371795.4																			0				endometrium(1)|large_intestine(4)|lung(4)	9						c.(787-789)aaT>aaA		interferon-induced protein with tetratricopeptide repeats 5							77.0	82.0	81.0					10																	91177745		2202	4299	6501	SO:0001583	missense	24138						binding	g.chr10:91177745T>A	U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"""Tetratricopeptide (TTC) repeat domain containing"""	13328	protein-coding gene	gene with protein product	"""retinoic acid- and interferon-inducible protein (58kD)"""					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.789T>A	10.37:g.91177745T>A	ENSP00000360860:p.Asn263Lys					IFIT5_ENST00000416601.1_Missense_Mutation_p.N215K	p.N263K	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN			2	1002	+			263					B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP	ENST00000371795.4	37	c.789T>A	CCDS7403.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.411613	0.25465	.	.	ENSG00000152778	ENST00000371795;ENST00000416601	T;D	0.87491	0.64;-2.26	5.79	-2.1	0.07210	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.853203	0.10652	N	0.649813	T	0.67822	0.2934	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.52756	-0.8533	10	0.44086	T	0.13	-4.7999	1.6048	0.02681	0.4432:0.2017:0.2296:0.1254	.	263;215	Q13325;B4DDV1	IFIT5_HUMAN;.	K	263;215	ENSP00000360860:N263K;ENSP00000414042:N215K	ENSP00000360860:N263K	N	+	3	2	IFIT5	91167725	0.000000	0.05858	0.560000	0.28344	0.977000	0.68977	-0.297000	0.08276	-0.793000	0.04475	0.533000	0.62120	AAT		0.433	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420		12	63	0	0	0	1	0	12	63				
SPTA1	6708	broad.mit.edu	37	1	158632713	158632713	+	Missense_Mutation	SNP	T	T	C			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr1:158632713T>C	ENST00000368147.4	-	17	2423	c.2243A>G	c.(2242-2244)gAc>gGc	p.D748G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	748					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCAGCCAGGTCTGTAAGGAT	0.423																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2242-2244)gAc>gGc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							74.0	71.0	72.0					1																	158632713		1870	4094	5964	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158632713T>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2243A>G	1.37:g.158632713T>C	ENSP00000357129:p.Asp748Gly					SPTA1_ENST00000368147.3_Missense_Mutation_p.D748G	p.D748G	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			17	2423	-	all_hematologic(112;0.0378)		748					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2243A>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	6.319	0.427023	0.11987	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52526	0.66;0.66	4.41	3.25	0.37280	.	0.240796	0.21428	N	0.074720	T	0.18593	0.0446	L	0.49640	1.575	0.25872	N	0.983694	B	0.19706	0.038	B	0.28305	0.088	T	0.21245	-1.0251	10	0.24483	T	0.36	.	5.0188	0.14350	0.1848:0.0:0.1923:0.6229	.	748	P02549	SPTA1_HUMAN	G	748	ENSP00000357130:D748G;ENSP00000357129:D748G	ENSP00000357129:D748G	D	-	2	0	SPTA1	156899337	1.000000	0.71417	0.005000	0.12908	0.012000	0.07955	4.657000	0.61490	0.700000	0.31782	0.533000	0.62120	GAC		0.423	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		19	39	0	0	0	1	0	19	39				
PCDH15	65217	broad.mit.edu	37	10	55826543	55826543	+	Missense_Mutation	SNP	C	C	A	rs148162562	byFrequency	TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr10:55826543C>A	ENST00000320301.6	-	18	2588	c.2194G>T	c.(2194-2196)Gcc>Tcc	p.A732S	PCDH15_ENST00000395432.2_Missense_Mutation_p.A695S|PCDH15_ENST00000395430.1_Missense_Mutation_p.A732S|PCDH15_ENST00000437009.1_Missense_Mutation_p.A661S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.A343S|PCDH15_ENST00000373955.1_Missense_Mutation_p.A732S|PCDH15_ENST00000361849.3_Missense_Mutation_p.A732S|PCDH15_ENST00000414778.1_Missense_Mutation_p.A737S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.A710S|PCDH15_ENST00000395438.1_Missense_Mutation_p.A732S|PCDH15_ENST00000373965.2_Missense_Mutation_p.A739S|PCDH15_ENST00000395445.1_Missense_Mutation_p.A739S|PCDH15_ENST00000373957.3_Missense_Mutation_p.A710S	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	732	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAGGCATTGGCTTCTTCTTCC	0.343										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(2215-2217)Gcc>Tcc		protocadherin-related 15							98.0	90.0	93.0					10																	55826543		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55826543C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2194G>T	10.37:g.55826543C>A	ENSP00000322604:p.Ala732Ser	HNSCC(58;0.16)				PCDH15_ENST00000395433.1_Missense_Mutation_p.A710S|PCDH15_ENST00000395445.1_Missense_Mutation_p.A739S|PCDH15_ENST00000373955.1_Missense_Mutation_p.A732S|PCDH15_ENST00000414778.1_Missense_Mutation_p.A737S|PCDH15_ENST00000361849.3_Missense_Mutation_p.A732S|PCDH15_ENST00000395430.1_Missense_Mutation_p.A732S|PCDH15_ENST00000373957.3_Missense_Mutation_p.A710S|PCDH15_ENST00000437009.1_Missense_Mutation_p.A661S|PCDH15_ENST00000395432.2_Missense_Mutation_p.A695S|PCDH15_ENST00000409834.1_Missense_Mutation_p.A343S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.A732S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.A732S	p.A739S	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			19	2609	-		Melanoma(3;0.117)|Lung SC(717;0.238)	732			Cadherin 7.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2215G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009923	0.75046	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.58652	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.32;0.71;0.71;0.71;0.71	5.85	3.96	0.45880	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.48660	0.1512	N	0.11651	0.15	0.47819	D	0.99952	P;B;B;B;D;B;P;B;B;B;B;B;P;P;B	0.55800	0.929;0.368;0.1;0.425;0.973;0.1;0.929;0.242;0.392;0.392;0.242;0.418;0.68;0.61;0.1	P;B;B;B;P;B;P;B;B;B;B;B;B;B;B	0.59171	0.853;0.14;0.098;0.098;0.842;0.14;0.853;0.145;0.241;0.173;0.159;0.223;0.281;0.146;0.098	T	0.48479	-0.9032	9	0.42905	T	0.14	.	6.2383	0.20776	0.1358:0.6599:0.1315:0.0728	.	710;732;732;737;661;695;732;732;739;739;732;737;732;710;732	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	S	739;737;732;732;343;739;695;732;710;710;732;732;737;661;732	ENSP00000363076:A739S;ENSP00000410304:A737S;ENSP00000378826:A732S;ENSP00000386693:A343S;ENSP00000378832:A739S;ENSP00000378820:A695S;ENSP00000354950:A732S;ENSP00000378821:A710S;ENSP00000363068:A710S;ENSP00000322604:A732S;ENSP00000378818:A732S;ENSP00000412628:A661S;ENSP00000363066:A732S	ENSP00000322604:A732S	A	-	1	0	PCDH15	55496549	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.921000	0.48852	1.464000	0.47987	0.655000	0.94253	GCC		0.343	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		12	41	1	0	7.93312e-07	1	8.61701e-07	12	41				
SLC6A5	9152	broad.mit.edu	37	11	20652328	20652328	+	Missense_Mutation	SNP	C	C	T			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr11:20652328C>T	ENST00000525748.1	+	10	1864	c.1591C>T	c.(1591-1593)Cgc>Tgc	p.R531C	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	531					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GGCCAATGAACGCAAAGTCAA	0.507																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(1591-1593)Cgc>Tgc		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						153.0	124.0	134.0					11																	20652328		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20652328C>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1591C>T	11.37:g.20652328C>T	ENSP00000434364:p.Arg531Cys					SLC6A5_ENST00000528440.1_3'UTR	p.R531C	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			10	1864	+			531					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.1591C>T	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704667	0.68615	.	.	ENSG00000165970	ENST00000525748	T	0.74526	-0.85	5.57	5.57	0.84162	.	0.056864	0.64402	D	0.000001	T	0.81621	0.4861	M	0.62209	1.925	0.53688	D	0.999977	D	0.57899	0.981	P	0.53809	0.735	T	0.82870	-0.0243	10	0.62326	D	0.03	.	19.54	0.95270	0.0:1.0:0.0:0.0	.	531	Q9Y345	SC6A5_HUMAN	C	531	ENSP00000434364:R531C	ENSP00000434364:R531C	R	+	1	0	SLC6A5	20608904	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	4.934000	0.63491	2.618000	0.88619	0.655000	0.94253	CGC		0.507	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		5	35	0	0	0	1	0	5	35				
UNC79	57578	broad.mit.edu	37	14	94173180	94173180	+	Missense_Mutation	SNP	G	G	A			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr14:94173180G>A	ENST00000393151.2	+	50	7838	c.7838G>A	c.(7837-7839)tGc>tAc	p.C2613Y	UNC79_ENST00000555664.1_Missense_Mutation_p.C2574Y|UNC79_ENST00000553484.1_Missense_Mutation_p.C2635Y|UNC79_ENST00000256339.4_Missense_Mutation_p.C2436Y			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2613					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGGTTGCAGTGCACTCAGTTC	0.577																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(7903-7905)tGc>tAc		unc-79 homolog (C. elegans)							71.0	74.0	73.0					14																	94173180		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94173180G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7838G>A	14.37:g.94173180G>A	ENSP00000376858:p.Cys2613Tyr					UNC79_ENST00000555664.1_Missense_Mutation_p.C2574Y|UNC79_ENST00000256339.4_Missense_Mutation_p.C2436Y|UNC79_ENST00000393151.2_Missense_Mutation_p.C2613Y	p.C2635Y			Q9P2D8	UNC79_HUMAN			51	8058	+			2613					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.7904G>A		.	.	.	.	.	.	.	.	.	.	G	23.1	4.371215	0.82573	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.17854	2.25;2.27;2.25;2.25	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.35038	0.0918	L	0.44542	1.39	0.80722	D	1	P	0.52842	0.956	P	0.60541	0.876	T	0.00254	-1.1874	10	0.52906	T	0.07	-14.257	20.6634	0.99662	0.0:0.0:1.0:0.0	.	2635	C9JQL1	.	Y	2436;2574;2635;2613;2635	ENSP00000256339:C2436Y;ENSP00000450868:C2574Y;ENSP00000451360:C2635Y;ENSP00000376858:C2613Y	ENSP00000256339:C2436Y	C	+	2	0	KIAA1409	93242933	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.869000	0.99810	2.894000	0.99253	0.655000	0.94253	TGC		0.577	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		10	56	0	0	0	1	0	10	56				
IGHG3	3502	broad.mit.edu	37	14	106237046	106237046	+	RNA	SNP	G	G	A			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr14:106237046G>A	ENST00000390551.2	-	0	304							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CACCAAGTGGGGTTTTGAGCT	0.572																																						ENST00000390551.2																			0																				159.0	154.0	156.0					14																	106237046		2012	4181	6193			0							g.chr14:106237046G>A	M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106237046G>A														0	304	-								A2NU35	RNA	SNP	ENST00000390551.2	37																																																																																						0.572	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326654.1	NG_001019		58	61	0	0	0	1	0	58	61				
SPTA1	6708	broad.mit.edu	37	1	158608031	158608031	+	Splice_Site	SNP	C	C	A			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr1:158608031C>A	ENST00000368147.4	-	36	5161	c.4981G>T	c.(4981-4983)Gat>Tat	p.D1661Y		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1661					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGAGTGCATCCTAGAAAGTC	0.433																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.e36-1		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							62.0	58.0	60.0					1																	158608031		1881	4112	5993	SO:0001630	splice_region_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158608031C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4981-1G>T	1.37:g.158608031C>A						SPTA1_ENST00000368147.3_Splice_Site_p.D1661_splice	p.D1661_splice	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			36	5161	-	all_hematologic(112;0.0378)		1661					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Splice_Site	SNP	ENST00000368147.4	37	c.4980_splice	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091337	0.76756	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.37058	1.22;1.22	5.24	4.33	0.51752	.	0.000000	0.33309	N	0.005053	T	0.53077	0.1774	M	0.85630	2.765	0.58432	D	0.999998	D	0.69078	0.997	D	0.71414	0.973	T	0.63256	-0.6678	10	0.87932	D	0	.	12.5398	0.56163	0.0:0.9192:0.0:0.0808	.	1661	P02549	SPTA1_HUMAN	Y	1661	ENSP00000357130:D1661Y;ENSP00000357129:D1661Y	ENSP00000357129:D1661Y	D	-	1	0	SPTA1	156874655	1.000000	0.71417	0.981000	0.43875	0.982000	0.71751	5.451000	0.66632	1.445000	0.47624	0.591000	0.81541	GAT		0.433	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	Missense_Mutation	6	27	1	0	0.00198382	1	0.00204886	6	27				
TAF1D	79101	broad.mit.edu	37	11	93469412	93469412	+	Missense_Mutation	SNP	T	T	G	rs76450167		TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr11:93469412T>G	ENST00000448108.2	-	6	1402	c.752A>C	c.(751-753)gAa>gCa	p.E251A	TAF1D_ENST00000546088.1_5'Flank|MIR1304_ENST00000408243.1_RNA|SNORD5_ENST00000459342.1_RNA|SNORA40_ENST00000388090.1_RNA|SNORA18_ENST00000384416.1_RNA	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	251					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						AATATCCTCTTCTTCTAAGTA	0.363																																						ENST00000448108.2																			0				large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						c.(751-753)gAa>gCa		TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa							109.0	106.0	107.0					11																	93469412		2201	4297	6498	SO:0001583	missense	79101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr11:93469412T>G		CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"""Josephin domain containing 3"""	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.752A>C	11.37:g.93469412T>G	ENSP00000410409:p.Glu251Ala						p.E251A	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN			6	1402	-			251					Q6I9Y6	Missense_Mutation	SNP	ENST00000448108.2	37	c.752A>C	CCDS8293.1	.	.	.	.	.	.	.	.	.	.	T	8.220	0.802276	0.16397	.	.	ENSG00000166012	ENST00000448108	.	.	.	4.94	3.81	0.43845	.	1.266200	0.05302	N	0.523259	T	0.22589	0.0545	N	0.08118	0	0.09310	N	1	B	0.30146	0.27	B	0.27262	0.078	T	0.24548	-1.0157	9	0.52906	T	0.07	-0.3343	8.6811	0.34209	0.0:0.0:0.2166:0.7834	.	251	Q9H5J8	TAF1D_HUMAN	A	251	.	ENSP00000314971:E251A	E	-	2	0	TAF1D	93109060	0.198000	0.23374	0.015000	0.15790	0.016000	0.09150	0.677000	0.25262	1.006000	0.39211	0.533000	0.62120	GAA		0.363	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394662.2	NM_024116		22	36	0	0	0	1	0	22	36				
FRMD3	257019	broad.mit.edu	37	9	85924472	85924472	+	Missense_Mutation	SNP	A	A	G			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr9:85924472A>G	ENST00000304195.3	-	10	1111	c.905T>C	c.(904-906)gTg>gCg	p.V302A	FRMD3_ENST00000376434.1_Missense_Mutation_p.V108A|FRMD3_ENST00000376438.1_Missense_Mutation_p.V302A	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	302	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CTGGTTTTCCACTCCACACTT	0.348																																						ENST00000304195.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(904-906)gTg>gCg		FERM domain containing 3							49.0	47.0	48.0					9																	85924472		1805	4068	5873	SO:0001583	missense	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85924472A>G	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.905T>C	9.37:g.85924472A>G	ENSP00000303508:p.Val302Ala					FRMD3_ENST00000376434.1_Missense_Mutation_p.V108A|FRMD3_ENST00000376438.1_Missense_Mutation_p.V302A	p.V302A	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN			10	1111	-			302			FERM.		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	c.905T>C	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.682585	0.88542	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000304195;ENST00000431299;ENST00000376422	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	5.46	5.46	0.80206	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.93943	0.8061	M	0.87900	2.915	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.71414	0.973;0.954	D	0.94914	0.8067	10	0.87932	D	0	.	15.5144	0.75812	1.0:0.0:0.0:0.0	.	302;302	A2A2Y4;A2A2Y4-2	FRMD3_HUMAN;.	A	302;108;302;71;198	ENSP00000365621:V302A;ENSP00000365617:V108A;ENSP00000303508:V302A;ENSP00000412719:V71A	ENSP00000303508:V302A	V	-	2	0	FRMD3	85114292	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.054000	0.93866	2.202000	0.70862	0.533000	0.62120	GTG		0.348	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		12	32	0	0	0	1	0	12	32				
FARS2	10667	broad.mit.edu	37	6	5545497	5545497	+	Missense_Mutation	SNP	G	G	A			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr6:5545497G>A	ENST00000324331.6	+	5	1325	c.989G>A	c.(988-990)cGt>cAt	p.R330H	FARS2_ENST00000274680.4_Missense_Mutation_p.R330H			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	330					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)	p.R330H(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CCTGATATCCGTCTCTTCTGG	0.473																																						ENST00000324331.6																			1	Substitution - Missense(1)	p.R330H(1)	endometrium(1)	endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15						c.(988-990)cGt>cAt		phenylalanyl-tRNA synthetase 2, mitochondrial	L-Phenylalanine(DB00120)						207.0	200.0	202.0					6																	5545497		2203	4300	6503	SO:0001583	missense	10667				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr6:5545497G>A	AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.989G>A	6.37:g.5545497G>A	ENSP00000316335:p.Arg330His					FARS2_ENST00000274680.4_Missense_Mutation_p.R330H	p.R330H			O95363	SYFM_HUMAN			5	1325	+	Ovarian(93;0.11)	all_hematologic(90;0.0104)	330					B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	ENST00000324331.6	37	c.989G>A	CCDS4494.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130846	0.94473	.	.	ENSG00000145982	ENST00000274680;ENST00000324331	D;D	0.82893	-1.66;-1.66	5.27	5.27	0.74061	Aminoacyl-tRNA synthetase, class II (1);Phenylalanyl-tRNA synthetase (1);	0.064498	0.64402	D	0.000006	D	0.93184	0.7829	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94853	0.8015	10	0.87932	D	0	-11.8551	17.8691	0.88806	0.0:0.0:1.0:0.0	.	330	O95363	SYFM_HUMAN	H	330	ENSP00000274680:R330H;ENSP00000316335:R330H	ENSP00000274680:R330H	R	+	2	0	FARS2	5490496	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.399000	0.97285	2.445000	0.82738	0.563000	0.77884	CGT		0.473	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567		46	89	0	0	0	1	0	46	89				
RALY	22913	broad.mit.edu	37	20	32664877	32664877	+	Silent	SNP	C	C	T	rs539352667	byFrequency	TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr20:32664877C>T	ENST00000246194.3	+	8	1204	c.702C>T	c.(700-702)ggC>ggT	p.G234G	RALY_ENST00000375114.3_Silent_p.G218G	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	234	Epitope (recognized by BKRF1 antibodies).|Poly-Gly.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						gcggcggcggcggtggtggtg	0.667																																						ENST00000375114.3																			0				kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						c.(652-654)ggC>ggT		RALY heterogeneous nuclear ribonucleoprotein							5.0	7.0	7.0					20																	32664877		2080	4086	6166	SO:0001819	synonymous_variant	22913					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr20:32664877C>T	AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"""RNA binding motif (RRM) containing"""	15921	protein-coding gene	gene with protein product		614663	"""RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)"", ""RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"""			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.702C>T	20.37:g.32664877C>T						RALY_ENST00000246194.3_Silent_p.G234G	p.G218G	NM_007367.3	NP_031393.2	Q9UKM9	RALY_HUMAN			7	1232	+			234					Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Silent	SNP	ENST00000246194.3	37	c.654C>T	CCDS13230.1																																																																																				0.667	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078753.1			3	11	0	0	0	1	0	3	11				
AHNAK2	113146	broad.mit.edu	37	14	105408302	105408302	+	Missense_Mutation	SNP	C	C	T			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr14:105408302C>T	ENST00000333244.5	-	7	13605	c.13486G>A	c.(13486-13488)Gac>Aac	p.D4496N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4496						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.D4496N(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATGCTCATGTCGGCCTCCATC	0.587																																						ENST00000333244.5																			1	Substitution - Missense(1)	p.D4496N(1)	large_intestine(1)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(13486-13488)Gac>Aac		AHNAK nucleoprotein 2							150.0	158.0	155.0					14																	105408302		2042	4182	6224	SO:0001583	missense	113146					nucleus		g.chr14:105408302C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13486G>A	14.37:g.105408302C>T	ENSP00000353114:p.Asp4496Asn					AHNAK2_ENST00000557457.1_Intron	p.D4496N	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	13605	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4496					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.13486G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985420	0.35036	.	.	ENSG00000185567	ENST00000333244	T	0.02140	4.43	3.6	2.71	0.32032	.	0.467007	0.15203	U	0.274938	T	0.06781	0.0173	M	0.63208	1.945	0.09310	N	1	D	0.69078	0.997	P	0.58873	0.847	T	0.26292	-1.0107	10	0.38643	T	0.18	-12.3735	7.8826	0.29631	0.0:0.742:0.1614:0.0967	.	4496	Q8IVF2	AHNK2_HUMAN	N	4496	ENSP00000353114:D4496N	ENSP00000353114:D4496N	D	-	1	0	AHNAK2	104479347	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.064000	0.11636	0.493000	0.27837	-0.683000	0.03753	GAC		0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		13	175	0	0	0	1	0	13	175				
NTRK3	4916	broad.mit.edu	37	15	88678541	88678541	+	Missense_Mutation	SNP	G	G	A	rs145157285		TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr15:88678541G>A	ENST00000360948.2	-	9	1156	c.995C>T	c.(994-996)aCg>aTg	p.T332M	NTRK3_ENST00000558676.1_Missense_Mutation_p.T332M|NTRK3_ENST00000542733.2_Missense_Mutation_p.T234M|NTRK3_ENST00000355254.2_Missense_Mutation_p.T332M|NTRK3_ENST00000317501.3_Missense_Mutation_p.T332M|NTRK3_ENST00000394480.2_Missense_Mutation_p.T332M|NTRK3_ENST00000557856.1_Missense_Mutation_p.T332M|NTRK3_ENST00000540489.2_Missense_Mutation_p.T332M|NTRK3_ENST00000357724.2_Missense_Mutation_p.T332M	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	332	Ig-like C2-type 2.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T332M(3)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCAGTGCAGCGTTGGTGGGGG	0.602			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			G|||	1	0.000199681	0.0	0.0	5008	,	,		17971	0.001		0.0	False		,,,				2504	0.0					ENST00000394480.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		"""congenital fibrosarcoma, Secretory breast """	ETV6/NTRK3(238)	3	Substitution - Missense(3)	p.T332M(3)	large_intestine(3)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(994-996)aCg>aTg		neurotrophic tyrosine kinase, receptor, type 3		G	MET/THR,MET/THR,MET/THR	0,4402		0,0,2201	72.0	74.0	73.0		995,995,995	5.3	0.6	15	dbSNP_134	73	2,8596	2.2+/-6.3	0,2,4297	yes	missense,missense,missense	NTRK3	NM_001007156.2,NM_001012338.2,NM_002530.3	81,81,81	0,2,6498	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	332/613,332/840,332/826	88678541	2,12998	2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88678541G>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.995C>T	15.37:g.88678541G>A	ENSP00000354207:p.Thr332Met	TSP Lung(13;0.10)				NTRK3_ENST00000540489.2_Missense_Mutation_p.T332M|NTRK3_ENST00000355254.2_Missense_Mutation_p.T332M|NTRK3_ENST00000357724.2_Missense_Mutation_p.T332M|NTRK3_ENST00000558676.1_Missense_Mutation_p.T332M|NTRK3_ENST00000360948.2_Missense_Mutation_p.T332M|NTRK3_ENST00000317501.3_Missense_Mutation_p.T332M|NTRK3_ENST00000542733.2_Missense_Mutation_p.T234M|NTRK3_ENST00000557856.1_Missense_Mutation_p.T332M	p.T332M	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		10	1316	-			332			Ig-like C2-type 2.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.995C>T	CCDS32322.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.48	2.249763	0.39797	0.0	2.33E-4	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.28	5.28	0.74379	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.153551	0.56097	D	0.000027	D	0.82825	0.5121	M	0.90198	3.095	0.43819	D	0.996386	D;D;D;D;D;D	0.76494	0.998;0.999;0.998;0.998;0.999;0.999	P;D;D;P;D;D	0.67725	0.761;0.938;0.932;0.761;0.923;0.953	D	0.85907	0.1438	10	0.87932	D	0	.	11.3995	0.49862	0.0821:0.0:0.9179:0.0	.	234;332;332;332;332;332	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	M	332;332;332;332;234;332;332	ENSP00000377990:T332M;ENSP00000354207:T332M;ENSP00000350356:T332M;ENSP00000347397:T332M;ENSP00000437773:T234M;ENSP00000444673:T332M;ENSP00000318328:T332M	ENSP00000318328:T332M	T	-	2	0	NTRK3	86479545	0.678000	0.27586	0.632000	0.29296	0.219000	0.24729	2.064000	0.41432	2.454000	0.82982	0.563000	0.77884	ACG		0.602	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				24	37	0	0	0	1	0	24	37				
NDST2	8509	broad.mit.edu	37	10	75567489	75567489	+	Missense_Mutation	SNP	C	C	T			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr10:75567489C>T	ENST00000309979.6	-	3	1214	c.658G>A	c.(658-660)Ggg>Agg	p.G220R	NDST2_ENST00000398701.2_5'Flank|NDST2_ENST00000299641.4_Missense_Mutation_p.G97R|RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.G220R			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	220	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GGCAGTGGCCCTGGTTCTAGG	0.557																																						ENST00000299641.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(289-291)Ggg>Agg		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2							67.0	63.0	64.0					10																	75567489		2203	4300	6503	SO:0001583	missense	8509					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr10:75567489C>T	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.658G>A	10.37:g.75567489C>T	ENSP00000310657:p.Gly220Arg					NDST2_ENST00000309979.6_Missense_Mutation_p.G220R	p.G97R	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN			4	1259	-	Prostate(51;0.0112)		220			Heparan sulfate N-deacetylase 2.		Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	c.289G>A	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321185	0.81580	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.47177	1.14;0.85	5.97	5.97	0.96955	.	0.045732	0.85682	D	0.000000	T	0.73087	0.3542	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74420	-0.3671	10	0.72032	D	0.01	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	97;220	B4E139;P52849	.;NDST2_HUMAN	R	220;97	ENSP00000310657:G220R;ENSP00000299641:G97R	ENSP00000299641:G97R	G	-	1	0	NDST2	75237495	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	7.810000	0.86072	2.837000	0.97791	0.655000	0.94253	GGG		0.557	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		15	14	0	0	0	1	0	15	14				
HRNR	388697	broad.mit.edu	37	1	152192359	152192359	+	Silent	SNP	A	A	T			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr1:152192359A>T	ENST00000368801.2	-	3	1821	c.1746T>A	c.(1744-1746)tcT>tcA	p.S582S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	582					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCTAAGCCAGAAGAGTGAC	0.562																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1744-1746)tcT>tcA		hornerin							231.0	229.0	230.0					1																	152192359		2203	4298	6501	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192359A>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1746T>A	1.37:g.152192359A>T						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S582S	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1821	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		582					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.1746T>A	CCDS30859.1																																																																																				0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		24	194	0	0	0	1	0	24	194				
NGFR	4804	broad.mit.edu	37	17	47583677	47583677	+	Silent	SNP	C	C	T			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr17:47583677C>T	ENST00000172229.3	+	3	350	c.225C>T	c.(223-225)gaC>gaT	p.D75D	NGFR_ENST00000504201.1_5'UTR|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	75					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CGTTCTCCGACGTGGTGAGCG	0.672																																						ENST00000172229.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17						c.(223-225)gaC>gaT		nerve growth factor receptor							25.0	28.0	27.0					17																	47583677		2190	4277	6467	SO:0001819	synonymous_variant	4804				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm		g.chr17:47583677C>T	M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	7809	protein-coding gene	gene with protein product	"""low affinity nerve growth factor receptor"", ""TNFR superfamily, member 16"""	162010	"""nerve growth factor receptor (TNFR superfamily, member 16)"""			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.225C>T	17.37:g.47583677C>T						RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_5'UTR	p.D75D	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN			3	350	+	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)		75					B2R961|B4E096	Silent	SNP	ENST00000172229.3	37	c.225C>T	CCDS11549.1																																																																																				0.672	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1			5	51	0	0	0	1	0	5	51				
COQ5	84274	broad.mit.edu	37	12	120960123	120960123	+	Missense_Mutation	SNP	C	C	T			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr12:120960123C>T	ENST00000288532.6	-	2	286	c.246G>A	c.(244-246)atG>atA	p.M82I	COQ5_ENST00000445328.2_Missense_Mutation_p.M82I	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	82					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATATCATTCATCACATCAT	0.438																																						ENST00000288532.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20						c.(244-246)atG>atA		coenzyme Q5 homolog, methyltransferase (S. cerevisiae)							234.0	195.0	208.0					12																	120960123		2203	4300	6503	SO:0001583	missense	84274				ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	g.chr12:120960123C>T	AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.246G>A	12.37:g.120960123C>T	ENSP00000288532:p.Met82Ile					COQ5_ENST00000445328.2_Missense_Mutation_p.M82I	p.M82I	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN			2	286	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		82					B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	ENST00000288532.6	37	c.246G>A	CCDS31912.1	.	.	.	.	.	.	.	.	.	.	C	35	5.560069	0.96514	.	.	ENSG00000110871	ENST00000288532;ENST00000302223;ENST00000445328;ENST00000552443;ENST00000551769;ENST00000547736	T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5	5.91	5.91	0.95273	UbiE/COQ5 methyltransferase, conserved site (1);	0.139712	0.85682	D	0.000000	D	0.86364	0.5915	M	0.83692	2.655	0.43308	D	0.995314	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87160	0.2214	10	0.87932	D	0	.	19.905	0.97004	0.0:1.0:0.0:0.0	.	82;82	B4DP72;Q5HYK3	.;COQ5_HUMAN	I	82;82;82;1;1;56	ENSP00000288532:M82I;ENSP00000401798:M82I;ENSP00000449863:M1I;ENSP00000450001:M1I;ENSP00000449933:M56I	ENSP00000288532:M82I	M	-	3	0	COQ5	119444506	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.594000	0.82698	2.804000	0.96469	0.462000	0.41574	ATG		0.438	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2	NM_032314		4	62	0	0	0	1	0	4	62				
CCDC181	57821	broad.mit.edu	37	1	169391324	169391324	+	Missense_Mutation	SNP	C	C	A			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr1:169391324C>A	ENST00000367806.3	-	3	497	c.345G>T	c.(343-345)ttG>ttT	p.L115F	CCDC181_ENST00000367805.3_Missense_Mutation_p.L115F|CCDC181_ENST00000545005.1_Missense_Mutation_p.L115F|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	115						nucleus (GO:0005634)											CTTCCTCCTCCAAGTCTTTCT	0.388																																						ENST00000545005.1																			0											c.(343-345)ttG>ttT		coiled-coil domain containing 181							64.0	65.0	64.0					1																	169391324		2203	4300	6503	SO:0001583	missense	57821							g.chr1:169391324C>A	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.345G>T	1.37:g.169391324C>A	ENSP00000356780:p.Leu115Phe					CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Missense_Mutation_p.L115F|CCDC181_ENST00000367805.3_Missense_Mutation_p.L115F	p.L115F							4	852	-								O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37	c.345G>T		.	.	.	.	.	.	.	.	.	.	C	12.00	1.805232	0.31961	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.26810	1.74;1.74;1.74;1.71	4.96	1.85	0.25348	.	0.414918	0.23821	N	0.044231	T	0.27900	0.0687	M	0.70595	2.14	0.37831	D	0.928734	D;D;D	0.63046	0.989;0.992;0.992	P;P;P	0.62298	0.858;0.9;0.9	T	0.09729	-1.0661	9	0.62326	D	0.03	-1.1501	7.2826	0.26320	0.2984:0.623:0.0:0.0787	.	115;115;115	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	F	115	ENSP00000356779:L115F;ENSP00000356780:L115F;ENSP00000442297:L115F;ENSP00000411000:L115F	ENSP00000356779:L115F	L	-	3	2	C1orf114	167657948	0.982000	0.34865	0.402000	0.26371	0.409000	0.31022	0.457000	0.21875	0.472000	0.27344	0.563000	0.77884	TTG		0.388	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		6	50	1	0	0.217242	1	0.217242	6	50				
PROX2	283571	broad.mit.edu	37	14	75329862	75329862	+	Silent	SNP	G	G	A			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr14:75329862G>A	ENST00000445876.1	-	1	675	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L	PROX2_ENST00000556489.2_Silent_p.L226L|PROX2_ENST00000556084.2_Silent_p.L226L			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	226					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		TCTTTCCTCAGAATCTCTAGT	0.537																																						ENST00000556084.2																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(676-678)Ctg>Ttg		prospero homeobox 2							60.0	58.0	59.0					14																	75329862		1938	4141	6079	SO:0001819	synonymous_variant	283571				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:75329862G>A		CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"""Homeoboxes / PROS class"""	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.676C>T	14.37:g.75329862G>A						PROX2_ENST00000445876.1_Silent_p.L226L|PROX2_ENST00000556489.2_Silent_p.L226L	p.L226L	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)	1	675	-			226					C9J5W1|Q8N9Q3	Silent	SNP	ENST00000445876.1	37	c.676C>T	CCDS45136.2																																																																																				0.537	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				22	36	0	0	0	1	0	22	36				
KRR1	11103	broad.mit.edu	37	12	75893616	75893616	+	Missense_Mutation	SNP	A	A	C			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr12:75893616A>C	ENST00000229214.4	-	10	1142	c.1119T>G	c.(1117-1119)gaT>gaG	p.D373E	KRR1_ENST00000438169.2_Missense_Mutation_p.D316E|GLIPR1_ENST00000266659.3_3'UTR	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	373	Lys-rich.				rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TTTTCTTTTCATCTGCCTCCA	0.358																																						ENST00000229214.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						c.(1117-1119)gaT>gaG		KRR1, small subunit (SSU) processome component, homolog (yeast)							84.0	77.0	80.0					12																	75893616		2203	4300	6503	SO:0001583	missense	11103				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding	g.chr12:75893616A>C	U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"""HIV-1 rev binding protein 2"", ""HIV-1 Rev binding protein 2"""	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.1119T>G	12.37:g.75893616A>C	ENSP00000229214:p.Asp373Glu					KRR1_ENST00000438169.2_Missense_Mutation_p.D316E|GLIPR1_ENST00000266659.3_3'UTR	p.D373E	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN			10	1142	-			373			Lys-rich.		A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Missense_Mutation	SNP	ENST00000229214.4	37	c.1119T>G	CCDS9012.1	.	.	.	.	.	.	.	.	.	.	A	9.965	1.223765	0.22457	.	.	ENSG00000111615	ENST00000229214;ENST00000438169	T;T	0.40225	1.04;1.05	5.55	4.42	0.53409	.	0.527652	0.21888	N	0.067629	T	0.20333	0.0489	N	0.14661	0.345	0.25501	N	0.987555	B;B	0.20368	0.012;0.044	B;B	0.18561	0.022;0.022	T	0.29243	-1.0018	10	0.02654	T	1	-4.656	7.9628	0.30081	0.8288:0.0:0.1712:0.0	.	316;373	E7EUQ0;Q13601	.;KRR1_HUMAN	E	373;316	ENSP00000229214:D373E;ENSP00000411740:D316E	ENSP00000229214:D373E	D	-	3	2	KRR1	74179883	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	2.280000	0.43443	0.968000	0.38212	0.402000	0.26972	GAT		0.358	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405727.1	NM_007043		14	25	0	0	0	1	0	14	25				
UACA	55075	broad.mit.edu	37	15	70960066	70960066	+	Missense_Mutation	SNP	G	G	A			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr15:70960066G>A	ENST00000322954.6	-	16	3142	c.2957C>T	c.(2956-2958)gCc>gTc	p.A986V	UACA_ENST00000539319.1_Missense_Mutation_p.A877V|UACA_ENST00000560441.1_Missense_Mutation_p.A971V|UACA_ENST00000379983.2_Missense_Mutation_p.A973V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	986					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GACAATTGGGGCGTATTTTAC	0.403																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(2956-2958)gCc>gTc		uveal autoantigen with coiled-coil domains and ankyrin repeats							183.0	168.0	173.0					15																	70960066		2199	4298	6497	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70960066G>A	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2957C>T	15.37:g.70960066G>A	ENSP00000314556:p.Ala986Val					UACA_ENST00000560441.1_Missense_Mutation_p.A971V|UACA_ENST00000379983.2_Missense_Mutation_p.A973V|UACA_ENST00000539319.1_Missense_Mutation_p.A877V	p.A986V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	3142	-			986					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.2957C>T	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	G	9.114	1.007305	0.19199	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.34472	1.36;1.38;1.84	5.95	5.95	0.96441	.	0.090219	0.48286	D	0.000185	T	0.49508	0.1561	L	0.55481	1.735	0.37463	D	0.915283	P;P;P;P	0.47253	0.889;0.823;0.892;0.889	P;P;P;P	0.52217	0.693;0.497;0.497;0.542	T	0.35475	-0.9787	10	0.29301	T	0.29	-2.1448	20.3931	0.98965	0.0:0.0:1.0:0.0	.	877;986;986;973	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	V	986;973;877	ENSP00000314556:A986V;ENSP00000369319:A973V;ENSP00000438667:A877V	ENSP00000314556:A986V	A	-	2	0	UACA	68747120	1.000000	0.71417	0.022000	0.16811	0.126000	0.20510	5.695000	0.68279	2.824000	0.97209	0.655000	0.94253	GCC		0.403	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			4	120	0	0	0	1	0	4	120				
GRIK1	2897	broad.mit.edu	37	21	30953765	30953765	+	Missense_Mutation	SNP	A	A	G			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr21:30953765A>G	ENST00000399907.1	-	13	2303	c.1892T>C	c.(1891-1893)gTt>gCt	p.V631A	GRIK1_ENST00000389124.2_Missense_Mutation_p.V631A|GRIK1_ENST00000309434.7_Missense_Mutation_p.V633A|GRIK1_ENST00000327783.4_Missense_Mutation_p.V631A|GRIK1_ENST00000389125.3_Missense_Mutation_p.V616A|GRIK1_ENST00000535441.1_Missense_Mutation_p.V633A|GRIK1_ENST00000399913.1_Missense_Mutation_p.V631A|GRIK1_ENST00000399914.1_Missense_Mutation_p.V616A|GRIK1_ENST00000399909.1_Missense_Mutation_p.V616A	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	631					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GAGAGCTCCAACTCCAAACCA	0.478																																						ENST00000399914.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(1846-1848)gTt>gCt		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						119.0	108.0	112.0					21																	30953765		2203	4299	6502	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30953765A>G		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1892T>C	21.37:g.30953765A>G	ENSP00000382791:p.Val631Ala					GRIK1_ENST00000399909.1_Missense_Mutation_p.V616A|GRIK1_ENST00000399913.1_Missense_Mutation_p.V631A|GRIK1_ENST00000389124.2_Missense_Mutation_p.V631A|GRIK1_ENST00000327783.4_Missense_Mutation_p.V631A|GRIK1_ENST00000309434.7_Missense_Mutation_p.V633A|GRIK1_ENST00000535441.1_Missense_Mutation_p.V633A|GRIK1_ENST00000389125.3_Missense_Mutation_p.V616A|GRIK1_ENST00000399907.1_Missense_Mutation_p.V631A	p.V616A			P39086	GRIK1_HUMAN			12	2368	-			631					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.1847T>C	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.728504	0.89390	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5	5.5	5.5	0.81552	Ionotropic glutamate receptor (2);	0.054647	0.64402	D	0.000001	D	0.97629	0.9223	L	0.57130	1.785	0.80722	D	1	P;P;P;P;P	0.42584	0.56;0.56;0.784;0.56;0.504	P;P;P;P;B	0.51777	0.489;0.489;0.679;0.489;0.281	D	0.98450	1.0591	10	0.87932	D	0	.	15.4419	0.75190	1.0:0.0:0.0:0.0	.	616;631;616;631;616	E7EPY9;E9PD61;E7EPZ0;P39086;P39086-2	.;.;.;GRIK1_HUMAN;.	A	631;616;631;616;633;492;631;631;616;633	ENSP00000327687:V631A;ENSP00000373777:V616A;ENSP00000382797:V631A;ENSP00000382798:V616A;ENSP00000446326:V633A;ENSP00000373776:V631A;ENSP00000382791:V631A;ENSP00000382793:V616A;ENSP00000311646:V633A	ENSP00000311646:V633A	V	-	2	0	GRIK1	29875636	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.131000	0.94446	2.302000	0.77476	0.533000	0.62120	GTT		0.478	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			5	46	0	0	0	1	0	5	46				
SSPO	23145	broad.mit.edu	37	7	149497093	149497093	+	RNA	SNP	G	G	C			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr7:149497093G>C	ENST00000378016.2	+	0	7132							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCCCTGCTGGTAAGATGCCA	0.612																																						ENST00000378016.2																			0													SCO-spondin							46.0	53.0	51.0					7																	149497093		2062	4194	6256			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149497093G>C	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149497093G>C										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	7132	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.612	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				5	21	0	0	0	1	0	5	21				
FLG	2312	broad.mit.edu	37	1	152284255	152284255	+	Missense_Mutation	SNP	C	C	T			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr1:152284255C>T	ENST00000368799.1	-	3	3142	c.3107G>A	c.(3106-3108)cGc>cAc	p.R1036H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1036	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTGGTGGCGGGATCCGTG	0.562									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(3106-3108)cGc>cAc		filaggrin							361.0	360.0	361.0					1																	152284255		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284255C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3107G>A	1.37:g.152284255C>T	ENSP00000357789:p.Arg1036His					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R1036H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3142	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1036			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3107G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281695	0.23392	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.04015	3.73	3.61	-6.3	0.02007	.	.	.	.	.	T	0.00754	0.0025	N	0.21448	0.665	0.09310	N	1	P	0.34800	0.469	B	0.24155	0.051	T	0.44251	-0.9340	9	0.37606	T	0.19	.	6.8932	0.24241	0.0:0.6347:0.1383:0.227	.	1036	P20930	FILA_HUMAN	H	1036;243	ENSP00000357789:R1036H	ENSP00000357789:R1036H	R	-	2	0	FLG	150550879	0.000000	0.05858	0.000000	0.03702	0.218000	0.24690	-6.084000	0.00082	-1.268000	0.02439	0.299000	0.19835	CGC		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		6	464	0	0	0	1	0	6	464				
KCNJ8	3764	broad.mit.edu	37	12	21919255	21919255	+	Missense_Mutation	SNP	C	C	T			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr12:21919255C>T	ENST00000240662.2	-	3	1022	c.677G>A	c.(676-678)cGc>cAc	p.R226H	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	226					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	CACCTGGATGCGCACAGAGGC	0.493																																						ENST00000240662.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(676-678)cGc>cAc		potassium inwardly-rectifying channel, subfamily J, member 8	Levosimendan(DB00922)						145.0	132.0	137.0					12																	21919255		2203	4300	6503	SO:0001583	missense	3764					voltage-gated potassium channel complex		g.chr12:21919255C>T	BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.677G>A	12.37:g.21919255C>T	ENSP00000240662:p.Arg226His					RP11-59N23.1_ENST00000542489.1_RNA	p.R226H	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN			3	1022	-			226					O00657	Missense_Mutation	SNP	ENST00000240662.2	37	c.677G>A	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153571	0.57259	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	D	0.92647	-3.08	5.11	5.11	0.69529	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.90676	0.7075	M	0.73372	2.23	0.58432	D	0.999992	B	0.32324	0.364	B	0.18561	0.022	D	0.90081	0.4170	10	0.54805	T	0.06	.	18.7389	0.91767	0.0:1.0:0.0:0.0	.	226	Q15842	IRK8_HUMAN	H	226	ENSP00000240662:R226H	ENSP00000240662:R226H	R	-	2	0	KCNJ8	21810522	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.962000	0.56766	2.667000	0.90743	0.563000	0.77884	CGC		0.493	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		45	65	0	0	0	1	0	45	65				
IL10RB	3588	broad.mit.edu	37	21	34640775	34640775	+	Silent	SNP	A	A	G			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr21:34640775A>G	ENST00000290200.2	+	2	234	c.126A>G	c.(124-126)tcA>tcG	p.S42S	IL10RB-AS1_ENST00000411998.1_RNA|AP000295.9_ENST00000433395.2_Missense_Mutation_p.H170R	NM_000628.4	NP_000619.3	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta	42	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						AGTGGGAGTCACCTGCTTTTG	0.473																																					Melanoma(67;315 1275 21667 21943 44564)	ENST00000433395.2																			0											c.(508-510)cAc>cGc									99.0	90.0	93.0					21																	34640775		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr21:34640775A>G	U08988	CCDS13623.1	21q22.11	2014-09-17			ENSG00000243646	ENSG00000243646		"""Interleukins and interleukin receptors"", ""CD molecules"""	5965	protein-coding gene	gene with protein product		123889		CRFB4, D21S58, D21S66		8314576, 9312047	Standard	NM_000628		Approved	CRF2-4, CDW210B, IL-10R2		Q08334	OTTHUMG00000065128	ENST00000290200.2:c.126A>G	21.37:g.34640775A>G						IL10RB_ENST00000290200.2_Silent_p.S42S	p.H170R							4	509	+								Q9BUU4	Missense_Mutation	SNP	ENST00000290200.2	37	c.509A>G	CCDS13623.1	.	.	.	.	.	.	.	.	.	.	A	8.238	0.806223	0.16467	.	.	ENSG00000249624	ENST00000433395	.	.	.	5.35	-10.7	0.00240	.	.	.	.	.	T	0.31104	0.0786	.	.	.	0.32661	N	0.518024	.	.	.	.	.	.	T	0.31752	-0.9932	4	.	.	.	0.3002	7.8318	0.29347	0.155:0.0:0.4339:0.4111	.	.	.	.	R	170	.	.	H	+	2	0	AP000295.9	33562645	0.000000	0.05858	0.036000	0.18154	0.882000	0.50991	-1.652000	0.01988	-3.089000	0.00248	-1.407000	0.01130	CAC		0.473	IL10RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139831.3			7	72	0	0	0	1	0	7	72				
CHRM3	1131	broad.mit.edu	37	1	240070781	240070781	+	Silent	SNP	G	G	A			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr1:240070781G>A	ENST00000255380.4	+	5	809	c.30G>A	c.(28-30)tcG>tcA	p.S10S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	10					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GTACAACCTCGCCTTTGTTTC	0.483																																						ENST00000255380.4																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(28-30)tcG>tcA		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						75.0	69.0	71.0					1																	240070781		2203	4300	6503	SO:0001819	synonymous_variant	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240070781G>A	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.30G>A	1.37:g.240070781G>A							p.S10S	NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	809	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	10					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	ENST00000255380.4	37	c.30G>A	CCDS1616.1																																																																																				0.483	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		4	59	0	0	0	1	0	4	59				
UVSSA	57654	broad.mit.edu	37	4	1377682	1377682	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr4:1377682C>T	ENST00000389851.4	+	13	2437	c.1990C>T	c.(1990-1992)Cag>Tag	p.Q664*	UVSSA_ENST00000511563.1_Nonsense_Mutation_p.Q215*|UVSSA_ENST00000511216.1_Nonsense_Mutation_p.Q664*|UVSSA_ENST00000512728.1_Nonsense_Mutation_p.Q215*|UVSSA_ENST00000507531.1_Nonsense_Mutation_p.Q664*	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	664					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										CCTGAAGGCTCAGGCTGATAC	0.637																																						ENST00000389851.4																			0											c.(1990-1992)Cag>Tag		UV-stimulated scaffold protein A							95.0	81.0	86.0					4																	1377682		2203	4300	6503	SO:0001587	stop_gained	57654							g.chr4:1377682C>T	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1990C>T	4.37:g.1377682C>T	ENSP00000374501:p.Gln664*					UVSSA_ENST00000511563.1_Nonsense_Mutation_p.Q215*|UVSSA_ENST00000511216.1_Nonsense_Mutation_p.Q664*|UVSSA_ENST00000507531.1_Nonsense_Mutation_p.Q664*|UVSSA_ENST00000512728.1_Nonsense_Mutation_p.Q215*	p.Q664*	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN			13	2437	+			664					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Nonsense_Mutation	SNP	ENST00000389851.4	37	c.1990C>T	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	C	36	5.735112	0.96865	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531;ENST00000511563;ENST00000512728	.	.	.	5.04	5.04	0.67666	.	0.396407	0.28135	N	0.016480	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	13.7333	0.62802	0.1541:0.8458:0.0:0.0	.	.	.	.	X	664;664;664;215;215	.	ENSP00000374501:Q664X	Q	+	1	0	KIAA1530	1367682	0.999000	0.42202	0.029000	0.17559	0.017000	0.09413	2.305000	0.43664	2.501000	0.84356	0.549000	0.68633	CAG		0.637	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		6	49	0	0	0	1	0	6	49				
LCE1C	353133	broad.mit.edu	37	1	152777704	152777704	+	Missense_Mutation	SNP	C	C	G			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr1:152777704C>G	ENST00000607093.1	-	1	250	c.251G>C	c.(250-252)aGg>aCg	p.R84T	LCE1C_ENST00000368768.1_Missense_Mutation_p.R84T			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	84	Gly-rich.				keratinization (GO:0031424)					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGTGGGACCTACGGCGCCT	0.701																																						ENST00000368768.1																			0				NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9						c.(250-252)aGg>aCg		late cornified envelope 1C							29.0	36.0	33.0					1																	152777704		2201	4286	6487	SO:0001583	missense	353133				keratinization			g.chr1:152777704C>G		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"""Late cornified envelopes"""	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.251G>C	1.37:g.152777704C>G	ENSP00000475270:p.Arg84Thr					LCE1C_ENST00000607093.1_Missense_Mutation_p.R84T	p.R84T	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	301	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		84			Gly-rich.			Missense_Mutation	SNP	ENST00000607093.1	37	c.251G>C	CCDS1026.1	.	.	.	.	.	.	.	.	.	.	C	2.582	-0.297187	0.05532	.	.	ENSG00000197084	ENST00000368768	T	0.05139	3.49	3.16	3.16	0.36331	.	.	.	.	.	T	0.12561	0.0305	M	0.74647	2.275	0.09310	N	0.999992	D	0.54772	0.968	D	0.72625	0.978	T	0.02766	-1.1113	9	0.87932	D	0	.	9.9325	0.41530	0.0:1.0:0.0:0.0	.	84	Q5T751	LCE1C_HUMAN	T	84	ENSP00000357757:R84T	ENSP00000357757:R84T	R	-	2	0	LCE1C	151044328	0.563000	0.26594	0.420000	0.26596	0.130000	0.20726	1.946000	0.40283	1.764000	0.52075	0.655000	0.94253	AGG		0.701	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		10	55	0	0	0	1	0	10	55				
SPTBN2	6712	broad.mit.edu	37	11	66478213	66478213	+	Missense_Mutation	SNP	G	G	A	rs372293906		TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr11:66478213G>A	ENST00000533211.1	-	10	1244	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R305C|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R305C|RN7SL12P_ENST00000473849.2_RNA			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	305					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCCACCAGGCGCTCTGCCTCC	0.627																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(913-915)Cgc>Tgc		spectrin, beta, non-erythrocytic 2		G	CYS/ARG	0,4400		0,0,2200	64.0	55.0	58.0		913	4.0	1.0	11		58	1,8589	1.2+/-3.3	0,1,4294	no	missense	SPTBN2	NM_006946.2	180	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	305/2391	66478213	1,12989	2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66478213G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.913C>T	11.37:g.66478213G>A	ENSP00000432568:p.Arg305Cys					SPTBN2_ENST00000529997.1_Missense_Mutation_p.R305C|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R305C	p.R305C			O15020	SPTN2_HUMAN			10	1244	-			305					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.913C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161514	0.78226	0.0	1.16E-4	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.69040	-0.37;-0.37;-0.37	5.0	4.04	0.47022	.	0.125415	0.56097	D	0.000028	T	0.78246	0.4253	M	0.79123	2.44	0.41027	D	0.985123	D	0.71674	0.998	P	0.61658	0.892	T	0.80527	-0.1343	10	0.56958	D	0.05	.	12.755	0.57331	0.0:0.0:0.7471:0.2529	.	305	O15020	SPTN2_HUMAN	C	305	ENSP00000432568:R305C;ENSP00000311489:R305C;ENSP00000433593:R305C	ENSP00000311489:R305C	R	-	1	0	SPTBN2	66234789	0.302000	0.24454	1.000000	0.80357	0.993000	0.82548	0.685000	0.25378	2.595000	0.87683	0.563000	0.77884	CGC		0.627	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		3	40	0	0	0	1	0	3	40				
ETV3	2117	broad.mit.edu	37	1	157105362	157105362	+	Missense_Mutation	SNP	C	C	G			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr1:157105362C>G	ENST00000368192.4	-	3	249	c.185G>C	c.(184-186)gGg>gCg	p.G62A	ETV3_ENST00000326786.4_Missense_Mutation_p.G62A|ETV3_ENST00000460850.1_5'UTR	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	62					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				GACAAATTCCCCGTACTCTCC	0.592																																						ENST00000368192.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9						c.(184-186)gGg>gCg		ets variant 3							57.0	59.0	58.0					1																	157105362		2202	4279	6481	SO:0001583	missense	2117						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157105362C>G	BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"""ets variant gene 3, ETS family transcriptional repressor"", ""ets variant gene 3"""			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.185G>C	1.37:g.157105362C>G	ENSP00000357175:p.Gly62Ala					ETV3_ENST00000326786.4_Missense_Mutation_p.G62A|ETV3_ENST00000460850.1_5'UTR	p.G62A	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN			3	249	-	Hepatocellular(266;0.158)	Prostate(1639;0.174)	62					B4E3M7|Q8TAC8|Q9BX30	Missense_Mutation	SNP	ENST00000368192.4	37	c.185G>C	CCDS44250.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158247	0.78114	.	.	ENSG00000117036	ENST00000368192;ENST00000326786	T;T	0.58358	0.34;0.34	5.32	5.32	0.75619	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.64402	D	0.000001	T	0.70701	0.3254	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.983;0.998	T	0.73920	-0.3830	10	0.66056	D	0.02	.	18.1187	0.89564	0.0:1.0:0.0:0.0	.	62;62	P41162-2;P41162	.;ETV3_HUMAN	A	62	ENSP00000357175:G62A;ENSP00000327316:G62A	ENSP00000327316:G62A	G	-	2	0	ETV3	155371986	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	7.726000	0.84824	2.647000	0.89833	0.655000	0.94253	GGG		0.592	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082843.2	NM_005240		15	38	0	0	0	1	0	15	38				
CNTNAP4	85445	broad.mit.edu	37	16	76555114	76555114	+	Missense_Mutation	SNP	G	G	A			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr16:76555114G>A	ENST00000476707.1	+	15	2591	c.2452G>A	c.(2452-2454)Gcg>Acg	p.A818T	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.A814T|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.A766T|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.A742T			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	815	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.A742T(1)|p.A814T(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AGAACTTAGCGCGGATGTATC	0.383																																						ENST00000307431.8																			2	Substitution - Missense(2)	p.A742T(1)|p.A814T(1)	kidney(2)	breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(2440-2442)Gcg>Acg		contactin associated protein-like 4							232.0	217.0	222.0					16																	76555114		1812	4074	5886	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76555114G>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2452G>A	16.37:g.76555114G>A	ENSP00000417628:p.Ala818Thr					CNTNAP4_ENST00000476707.1_Missense_Mutation_p.A818T|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.A742T|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.A766T	p.A814T	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			17	2825	+			815			Laminin G-like 3.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.2440G>A		.	.	.	.	.	.	.	.	.	.	G	15.69	2.908768	0.52439	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.99	4.99	0.66335	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.000000	0.41194	D	0.000930	T	0.56232	0.1971	.	.	.	0.42444	D	0.992727	D;D;D	0.62365	0.973;0.977;0.991	P;P;P	0.56960	0.701;0.556;0.81	T	0.59537	-0.7436	9	0.59425	D	0.04	.	13.8334	0.63395	0.076:0.0:0.924:0.0	.	742;818;815	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	T	814;766;742;818	ENSP00000306893:A814T;ENSP00000439733:A766T;ENSP00000418741:A742T;ENSP00000417628:A818T	ENSP00000306893:A814T	A	+	1	0	CNTNAP4	75112615	1.000000	0.71417	0.982000	0.44146	0.750000	0.42670	6.402000	0.73260	2.610000	0.88304	0.561000	0.74099	GCG		0.383	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		23	58	0	0	0	1	0	23	58				
HRG	3273	broad.mit.edu	37	3	186394861	186394861	+	Missense_Mutation	SNP	C	C	T	rs143855375		TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr3:186394861C>T	ENST00000232003.4	+	7	847	c.767C>T	c.(766-768)cCg>cTg	p.P256L		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	256					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.P256Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		AATGGTGTACCGCCTCATTTG	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17833	0.0		0.0	False		,,,				2504	0.0					ENST00000232003.4																			1	Substitution - Missense(1)	p.P256Q(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(766-768)cCg>cTg		histidine-rich glycoprotein							164.0	141.0	149.0					3																	186394861		2203	4300	6503	SO:0001583	missense	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186394861C>T		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.767C>T	3.37:g.186394861C>T	ENSP00000232003:p.Pro256Leu						p.P256L	NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	7	847	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		256					B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	c.767C>T	CCDS3280.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.05	1.821900	0.32237	.	.	ENSG00000113905	ENST00000232003	T	0.18810	2.19	4.57	-9.14	0.00701	.	1.753150	0.02840	N	0.127864	T	0.11965	0.0291	L	0.36672	1.1	0.09310	N	1	P	0.39665	0.682	B	0.21151	0.033	T	0.16571	-1.0398	10	0.48119	T	0.1	1.5322	10.9516	0.47332	0.1484:0.4129:0.4388:0.0	.	256	P04196	HRG_HUMAN	L	256	ENSP00000232003:P256L	ENSP00000232003:P256L	P	+	2	0	HRG	187877555	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.248000	0.01189	-2.611000	0.00445	-0.516000	0.04426	CCG		0.448	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		35	70	0	0	0	1	0	35	70				
AMZ1	155185	broad.mit.edu	37	7	2752464	2752464	+	Silent	SNP	C	C	T			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr7:2752464C>T	ENST00000312371.4	+	7	1817	c.1449C>T	c.(1447-1449)ctC>ctT	p.L483L	AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_3'UTR	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	483							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CCCGAAAACTCGCCAGAGCAG	0.647																																						ENST00000312371.4																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(1447-1449)ctC>ctT		archaelysin family metallopeptidase 1							29.0	33.0	32.0					7																	2752464		2198	4287	6485	SO:0001819	synonymous_variant	155185						metallopeptidase activity|zinc ion binding	g.chr7:2752464C>T	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.1449C>T	7.37:g.2752464C>T						AMZ1_ENST00000407112.1_3'UTR|AMZ1_ENST00000489665.1_Intron	p.L483L	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	7	1817	+		Ovarian(82;0.0779)	483					B3KRS0|Q8TF51	Silent	SNP	ENST00000312371.4	37	c.1449C>T	CCDS34589.1																																																																																				0.647	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		11	41	0	0	0	1	0	11	41				
CTSG	1511	broad.mit.edu	37	14	25043995	25043995	+	Silent	SNP	G	G	A	rs143803246		TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr14:25043995G>A	ENST00000216336.2	-	3	261	c.225C>T	c.(223-225)ggC>ggT	p.G75G		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	75	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.G75G(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TATTGTGGGCGCCCAGGGTGA	0.557																																						ENST00000216336.2																			1	Substitution - coding silent(1)	p.G75G(1)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(223-225)ggC>ggT		cathepsin G							139.0	122.0	128.0					14																	25043995		2203	4300	6503	SO:0001819	synonymous_variant	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043995G>A	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.225C>T	14.37:g.25043995G>A							p.G75G	NM_001911.2	NP_001902.1	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	3	261	-			75			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	ENST00000216336.2	37	c.225C>T	CCDS9631.1																																																																																				0.557	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		5	60	0	0	0	1	0	5	60				
MOCS2	4338	broad.mit.edu	37	5	52394453	52394453	+	Silent	SNP	G	G	A			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr5:52394453G>A	ENST00000396954.3	-	7	1223	c.546C>T	c.(544-546)tgC>tgT	p.C182C	MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000582677.1_3'UTR	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				ATGCCCAAAAGCACTCTTTGT	0.289																																						ENST00000396954.3																			0				endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(544-546)tgC>tgT		molybdenum cofactor synthesis 2							132.0	124.0	127.0					5																	52394453		2203	4300	6503	SO:0001819	synonymous_variant	4338				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	g.chr5:52394453G>A	AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.546C>T	5.37:g.52394453G>A						MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000582677.1_3'UTR	p.C182C	NM_004531.3	NP_004522.1	O96033	MOC2A_HUMAN			7	1223	-		Lung NSC(810;3.08e-05)|Breast(144;0.0848)	0						Silent	SNP	ENST00000396954.3	37	c.546C>T	CCDS3958.1																																																																																				0.289	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214053.3	NM_183418		7	36	0	0	0	1	0	7	36				
OR6K2	81448	broad.mit.edu	37	1	158669493	158669493	+	Missense_Mutation	SNP	G	G	A			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr1:158669493G>A	ENST00000359610.2	-	1	993	c.950C>T	c.(949-951)cCa>cTa	p.P317L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	317						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGAGGTCCCTGGTCTTACGGA	0.373																																						ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(949-951)cCa>cTa		olfactory receptor, family 6, subfamily K, member 2							71.0	69.0	70.0					1																	158669493		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669493G>A	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.950C>T	1.37:g.158669493G>A	ENSP00000352626:p.Pro317Leu						p.P317L	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	993	-	all_hematologic(112;0.0378)		317					B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.950C>T	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	G	8.906	0.957635	0.18507	.	.	ENSG00000196171	ENST00000359610	T	0.00966	5.49	4.39	0.176	0.15049	.	.	.	.	.	T	0.00271	0.0008	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43212	-0.9405	9	0.72032	D	0.01	5.169	3.1322	0.06428	0.176:0.1527:0.5382:0.1331	.	317	Q8NGY2	OR6K2_HUMAN	L	317	ENSP00000352626:P317L	ENSP00000352626:P317L	P	-	2	0	OR6K2	156936117	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	-0.096000	0.11059	-0.288000	0.09051	-1.367000	0.01198	CCA		0.373	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		16	32	0	0	0	1	0	16	32				
OR4A16	81327	broad.mit.edu	37	11	55111638	55111638	+	Missense_Mutation	SNP	G	G	A			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr11:55111638G>A	ENST00000314721.2	+	1	1012	c.962G>A	c.(961-963)aGt>aAt	p.S321N		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	321						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTTATTCCTAGTTCTAAGGCA	0.343																																						ENST00000314721.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(961-963)aGt>aAt		olfactory receptor, family 4, subfamily A, member 16							23.0	24.0	23.0					11																	55111638		2194	4276	6470	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111638G>A	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.962G>A	11.37:g.55111638G>A	ENSP00000325128:p.Ser321Asn						p.S321N	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	1012	+			321					Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.962G>A	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	g	5.966	0.362163	0.11296	.	.	ENSG00000181961	ENST00000314721	T	0.00006	9.74	3.64	-5.9	0.02275	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.03773	-1.1005	9	0.59425	D	0.04	.	7.2677	0.26239	0.3123:0.1523:0.5353:0.0	.	321	Q8NH70	O4A16_HUMAN	N	321	ENSP00000325128:S321N	ENSP00000325128:S321N	S	+	2	0	OR4A16	54868214	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-1.926000	0.01562	-1.175000	0.02751	-0.298000	0.09462	AGT		0.343	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		13	14	0	0	0	1	0	13	14				
IARS2	55699	broad.mit.edu	37	1	220275731	220275731	+	Silent	SNP	T	T	A			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr1:220275731T>A	ENST00000302637.5	+	5	830	c.726T>A	c.(724-726)ccT>ccA	p.P242P	IARS2_ENST00000366922.1_Silent_p.P170P	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	242					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CTTACAAACCTGTGTTTTGGT	0.308																																						ENST00000366922.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(508-510)ccT>ccA		isoleucyl-tRNA synthetase 2, mitochondrial	L-Isoleucine(DB00167)						114.0	112.0	113.0					1																	220275731		2203	4300	6503	SO:0001819	synonymous_variant	55699				isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	g.chr1:220275731T>A	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.726T>A	1.37:g.220275731T>A						IARS2_ENST00000302637.5_Silent_p.P242P	p.P170P			Q9NSE4	SYIM_HUMAN		GBM - Glioblastoma multiforme(131;0.0554)	5	841	+			242					B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Silent	SNP	ENST00000302637.5	37	c.510T>A	CCDS1523.1																																																																																				0.308	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		3	45	0	0	0	1	0	3	45				
ERC2	26059	broad.mit.edu	37	3	56330243	56330243	+	Missense_Mutation	SNP	G	G	A			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr3:56330243G>A	ENST00000288221.6	-	3	1133	c.878C>T	c.(877-879)aCg>aTg	p.T293M		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	293						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTGTTTCTGCGTTTCAATTCT	0.458																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(877-879)aCg>aTg		ELKS/RAB6-interacting/CAST family member 2							293.0	292.0	292.0					3																	56330243		1953	4159	6112	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56330243G>A	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.878C>T	3.37:g.56330243G>A	ENSP00000288221:p.Thr293Met						p.T293M	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	3	1133	-			293					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.878C>T	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234760	0.79800	.	.	ENSG00000187672	ENST00000288221	T	0.46451	0.87	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.66848	0.2831	M	0.72894	2.215	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.67799	-0.5577	10	0.87932	D	0	-15.8808	20.1615	0.98135	0.0:0.0:1.0:0.0	.	293	O15083	ERC2_HUMAN	M	293	ENSP00000288221:T293M	ENSP00000288221:T293M	T	-	2	0	ERC2	56305283	1.000000	0.71417	0.984000	0.44739	0.994000	0.84299	9.813000	0.99286	2.835000	0.97688	0.650000	0.86243	ACG		0.458	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		11	235	0	0	0	1	0	11	235				
LINC00471	151477	broad.mit.edu	37	2	232373921	232373921	+	RNA	SNP	C	C	T	rs183206028		TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr2:232373921C>T	ENST00000313064.2	-	0	497					NR_024079.1		Q8N535	CB052_HUMAN	long intergenic non-protein coding RNA 471																		GTGGCTCTCACGGTCCTTGAG	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19326	0.0		0.0	False		,,,				2504	0.0					ENST00000313064.2																			0																				233.0	221.0	225.0					2																	232373921		2203	4300	6503			0							g.chr2:232373921C>T	BC033054		2q37.1	2012-10-12	2011-08-31	2011-08-31	ENSG00000181798	ENSG00000181798		"""Long non-coding RNAs"""	28668	non-coding RNA	RNA, long non-coding			"""chromosome 2 open reading frame 52"""	C2orf52		12477932	Standard	NR_024079		Approved	MGC43122	uc002vrx.1	Q8N535	OTTHUMG00000133227		2.37:g.232373921C>T								NR_024079.1						0	497	-									RNA	SNP	ENST00000313064.2	37																																																																																						0.522	LINC00471-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000256963.2	NM_173513		4	114	0	0	0	1	0	4	114				
ZMYM4	9202	broad.mit.edu	37	1	35824942	35824942	+	Frame_Shift_Del	DEL	G	G	-			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr1:35824942delG	ENST00000314607.6	+	3	582	c.502delG	c.(502-504)ggafs	p.G168fs	ZMYM4_ENST00000373297.2_Frame_Shift_Del_p.G168fs|ZMYM4-AS1_ENST00000432683.1_RNA	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	168					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GACATTTTCTGGAAAGGAGAA	0.313																																						ENST00000314607.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(502-504)gafs		zinc finger, MYM-type 4							36.0	37.0	37.0					1																	35824942		2198	4291	6489	SO:0001589	frameshift_variant	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35824942delG	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.502delG	1.37:g.35824942delG	ENSP00000322915:p.Gly168fs					ZMYM4-AS1_ENST00000432683.1_RNA|ZMYM4_ENST00000373297.2_Frame_Shift_Del_p.G168fs	p.G168fs	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			3	582	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	168					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Frame_Shift_Del	DEL	ENST00000314607.6	37	c.502delG	CCDS389.1																																																																																				0.313	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		14	34						14	34	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137791	121137793	+	lincRNA	DEL	CCA	CCA	-	rs28552466|rs61625886|rs374710813	byFrequency	TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr1:121137791_121137793delCCA	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							ATTTCGCCCTCCACCGCCGCCGC	0.631																																						ENST00000437515.1																			0																																																			0							g.chr1:121137791_121137793delCCA																													1.37:g.121137791_121137793delCCA														0	329	-									RNA	DEL	ENST00000417218.1	37																																																																																						0.631	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			4	5						4	5	---	---	---	---
JRK	8629	broad.mit.edu	37	8	143747534	143747534	+	RNA	DEL	C	C	-			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr8:143747534delC	ENST00000507178.2	-	0	276							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				TGGGCTGCTGCCACTACTTCC	0.667																																						ENST00000507178.2																			0													jerky homolog (mouse)																																						8629							g.chr8:143747534delC	AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"""jerky (mouse) homolog"", ""jerky homolog (mouse)"""			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143747534delC														0	276	-	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)						O75565	RNA	DEL	ENST00000507178.2	37																																																																																						0.667	JRK-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000362914.1	NM_003724		2	4						2	4	---	---	---	---
TEX10	54881	broad.mit.edu	37	9	103066107	103066108	+	Frame_Shift_Ins	INS	-	-	C			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr9:103066107_103066108insC	ENST00000374902.4	-	14	2658_2659	c.2482_2483insG	c.(2482-2484)gtcfs	p.V828fs	TEX10_ENST00000535814.1_Intron|TEX10_ENST00000477648.1_5'UTR	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	828						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		GGAGACACAGACCCCCCACAGC	0.545																																						ENST00000374902.4																			0				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38						c.(2482-2484)ctgfs		testis expressed 10																																				SO:0001589	frameshift_variant	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103066107_103066108insC	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.2483dupG	9.37:g.103066113_103066113dupC	ENSP00000364037:p.Val828fs					TEX10_ENST00000477648.1_5'UTR|TEX10_ENST00000535814.1_Intron	p.L828fs	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	14	2658_2659	-		Acute lymphoblastic leukemia(62;0.0527)	828					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Frame_Shift_Ins	INS	ENST00000374902.4	37	c.2482_2483insG	CCDS6748.1																																																																																				0.545	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		9	39						9	39	---	---	---	---
