#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
CCT2	10576	broad.mit.edu	37	12	69993770	69993770	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:69993770C>T	ENST00000299300.6	+	15	1751	c.1563C>T	c.(1561-1563)atC>atT	p.I521I	CCT2_ENST00000543146.2_Silent_p.I474I|CCT2_ENST00000544368.2_Intron	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	521					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			ACAACATCATCAAAGCGGCAC	0.398																																						ENST00000543146.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24						c.(1420-1422)atC>atT		chaperonin containing TCP1, subunit 2 (beta)							71.0	68.0	69.0					12																	69993770		2203	4300	6503	SO:0001819	synonymous_variant	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69993770C>T	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.1563C>T	12.37:g.69993770C>T						CCT2_ENST00000299300.6_Silent_p.I521I|CCT2_ENST00000544368.2_Intron	p.I474I	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		15	1904	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		521					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Silent	SNP	ENST00000299300.6	37	c.1422C>T	CCDS8991.1																																																																																				0.398	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		8	19	0	0	0	1	0	8	19				
DCC	1630	broad.mit.edu	37	18	50278720	50278720	+	Silent	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr18:50278720C>A	ENST00000442544.2	+	2	1004	c.388C>A	c.(388-390)Cgg>Agg	p.R130R	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	130	Ig-like C2-type 1.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AATTATTAGTCGGACAGCAAA	0.423																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(388-390)Cgg>Agg		deleted in colorectal carcinoma							112.0	104.0	107.0					18																	50278720		2203	4300	6503	SO:0001819	synonymous_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50278720C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.388C>A	18.37:g.50278720C>A						DCC_ENST00000412726.1_5'UTR	p.R130R	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	2	1004	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	130			Ig-like C2-type 1.			Silent	SNP	ENST00000442544.2	37	c.388C>A	CCDS11952.1																																																																																				0.423	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		11	36	1	0	0.00010058	1	0.000105258	11	36				
PCLO	27445	broad.mit.edu	37	7	82581589	82581589	+	Missense_Mutation	SNP	C	C	G	rs549765960		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:82581589C>G	ENST00000333891.9	-	5	9017	c.8680G>C	c.(8680-8682)Gat>Cat	p.D2894H	PCLO_ENST00000423517.2_Missense_Mutation_p.D2894H|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTTCCCCATCAGTGATTCCC	0.443													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22242	0.0		0.0	False		,,,				2504	0.0					ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(8680-8682)Gat>Cat		piccolo presynaptic cytomatrix protein							182.0	171.0	175.0					7																	82581589		1998	4172	6170	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82581589C>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8680G>C	7.37:g.82581589C>G	ENSP00000334319:p.Asp2894His					PCLO_ENST00000333891.8_Missense_Mutation_p.D2894H	p.D2894H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	9017	-			2825						Missense_Mutation	SNP	ENST00000333891.9	37	c.8680G>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629546	0.28978	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15487	2.42;2.42	5.68	5.68	0.88126	.	.	.	.	.	T	0.33411	0.0862	L	0.47716	1.5	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.57468	0.821;0.821	T	0.01444	-1.1353	9	0.87932	D	0	.	19.7856	0.96434	0.0:1.0:0.0:0.0	.	2894;2894	Q9Y6V0-5;Q9Y6V0-6	.;.	H	2825;2894;2894	ENSP00000334319:D2894H;ENSP00000388393:D2894H	ENSP00000334319:D2894H	D	-	1	0	PCLO	82419525	0.956000	0.32656	0.983000	0.44433	0.992000	0.81027	3.276000	0.51646	2.665000	0.90641	0.563000	0.77884	GAT		0.443	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		18	44	0	0	0	1	0	18	44				
PSMC3	5702	broad.mit.edu	37	11	47446705	47446705	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:47446705C>G	ENST00000298852.3	-	3	409	c.252G>C	c.(250-252)aaG>aaC	p.K84N	PSMC3_ENST00000602866.1_Missense_Mutation_p.K68N|PSMC3_ENST00000530912.1_Intron	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	84					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of RNA biosynthetic process (GO:2001141)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACGGCAGGGTCTTGTTCACTT	0.512																																						ENST00000298852.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17						c.(250-252)aaG>aaC		proteasome (prosome, macropain) 26S subunit, ATPase, 3							283.0	227.0	246.0					11																	47446705		2201	4298	6499	SO:0001583	missense	5702				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity	g.chr11:47446705C>G	M34079	CCDS7935.1	11p11.2	2010-04-21			ENSG00000165916	ENSG00000165916		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9549	protein-coding gene	gene with protein product		186852				9048938, 9473509	Standard	NM_002804		Approved	TBP1, TBP-1	uc001nfh.2	P17980	OTTHUMG00000167692	ENST00000298852.3:c.252G>C	11.37:g.47446705C>G	ENSP00000298852:p.Lys84Asn					PSMC3_ENST00000602866.1_Missense_Mutation_p.K68N|PSMC3_ENST00000530912.1_Intron	p.K84N	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN		Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)	3	409	-			84					B2R8V1|Q3B757|Q3B865|Q53HU5|Q6GPG8|Q6IBS1|Q96HD3	Missense_Mutation	SNP	ENST00000298852.3	37	c.252G>C	CCDS7935.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092253	0.76756	.	.	ENSG00000165916	ENST00000298852;ENST00000524447;ENST00000531051;ENST00000530887;ENST00000530651;ENST00000527906;ENST00000526993;ENST00000531653;ENST00000528362	D	0.95342	-3.68	5.39	3.5	0.40072	.	0.185590	0.56097	D	0.000025	D	0.94889	0.8348	M	0.78285	2.405	0.58432	D	0.999997	D	0.56287	0.975	P	0.55455	0.776	D	0.93213	0.6602	10	0.48119	T	0.1	-36.4106	5.0226	0.14369	0.0:0.5743:0.0:0.4257	.	84	P17980	PRS6A_HUMAN	N	84;49;49;49;49;49;92;68;68	ENSP00000298852:K84N	ENSP00000298852:K84N	K	-	3	2	PSMC3	47403281	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.242000	0.43106	1.250000	0.43966	0.555000	0.69702	AAG		0.512	PSMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395660.2	NM_002804		10	48	0	0	0	1	0	10	48				
UACA	55075	broad.mit.edu	37	15	70961694	70961694	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:70961694C>G	ENST00000322954.6	-	16	1514	c.1329G>C	c.(1327-1329)aaG>aaC	p.K443N	UACA_ENST00000539319.1_Missense_Mutation_p.K334N|UACA_ENST00000379983.2_Missense_Mutation_p.K430N|UACA_ENST00000560441.1_Missense_Mutation_p.K428N	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	443					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						CTAACTCTTTCTTTAAAATTT	0.413																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(1327-1329)aaG>aaC		uveal autoantigen with coiled-coil domains and ankyrin repeats							89.0	87.0	88.0					15																	70961694		2199	4297	6496	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70961694C>G	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.1329G>C	15.37:g.70961694C>G	ENSP00000314556:p.Lys443Asn					UACA_ENST00000560441.1_Missense_Mutation_p.K428N|UACA_ENST00000379983.2_Missense_Mutation_p.K430N|UACA_ENST00000539319.1_Missense_Mutation_p.K334N	p.K443N	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	1514	-			443					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.1329G>C	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.546943	0.45383	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	T;T;T	0.38887	1.11;1.13;1.59	5.61	2.69	0.31865	.	0.000000	0.64402	D	0.000008	T	0.56001	0.1956	M	0.65975	2.015	0.36456	D	0.866372	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.988;0.962;0.962;0.999	T	0.60063	-0.7336	10	0.44086	T	0.13	-32.0317	6.9836	0.24715	0.0:0.672:0.1229:0.2051	.	334;443;443;430	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	N	443;430;419;334	ENSP00000314556:K443N;ENSP00000369319:K430N;ENSP00000438667:K334N	ENSP00000314556:K443N	K	-	3	2	UACA	68748748	0.996000	0.38824	1.000000	0.80357	0.352000	0.29268	0.348000	0.20031	0.734000	0.32515	0.591000	0.81541	AAG		0.413	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			14	41	0	0	0	1	0	14	41				
CRB1	23418	broad.mit.edu	37	1	197390563	197390563	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:197390563G>A	ENST00000367400.3	+	6	1740	c.1605G>A	c.(1603-1605)ctG>ctA	p.L535L	CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367399.2_Silent_p.L423L|CRB1_ENST00000543483.1_Silent_p.L234L|CRB1_ENST00000538660.1_Silent_p.L535L|CRB1_ENST00000535699.1_Silent_p.L466L|CRB1_ENST00000544212.1_Silent_p.L16L	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	535	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.		L -> P (in LCA8). {ECO:0000269|PubMed:17438615}.		cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTGTGAAGCTGGAGCTGCTAA	0.458																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(1603-1605)ctG>ctA		crumbs homolog 1 (Drosophila)							123.0	121.0	122.0					1																	197390563		2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390563G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1605G>A	1.37:g.197390563G>A						CRB1_ENST00000538660.1_Silent_p.L535L|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000367399.2_Silent_p.L423L|CRB1_ENST00000543483.1_Silent_p.L234L|CRB1_ENST00000535699.1_Silent_p.L466L|CRB1_ENST00000544212.1_Silent_p.L16L|CRB1_ENST00000476483.1_3'UTR	p.L535L	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			6	1740	+			535			Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.1605G>A	CCDS1390.1																																																																																				0.458	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		16	43	0	0	0	1	0	16	43				
OR5M3	219482	broad.mit.edu	37	11	56237827	56237827	+	Silent	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:56237827G>C	ENST00000312240.2	-	1	187	c.147C>G	c.(145-147)gtC>gtG	p.V49V		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GCTGAGGACTGACCTTGATTA	0.438																																						ENST00000312240.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(145-147)gtC>gtG		olfactory receptor, family 5, subfamily M, member 3							136.0	117.0	124.0					11																	56237827		2201	4295	6496	SO:0001819	synonymous_variant	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237827G>C	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.147C>G	11.37:g.56237827G>C							p.V49V	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	187	-	Esophageal squamous(21;0.00448)		49					B2RNM7|Q6IEW4|Q96RC0	Silent	SNP	ENST00000312240.2	37	c.147C>G	CCDS31532.1																																																																																				0.438	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		13	51	0	0	0	1	0	13	51				
ZNF148	7707	broad.mit.edu	37	3	124998092	124998092	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:124998092C>A	ENST00000360647.4	-	6	945		c.e6-1		ZNF148_ENST00000484491.1_Splice_Site|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000497929.1_Splice_Site|ZNF148_ENST00000485866.1_Splice_Site|SLC12A8_ENST00000423114.2_5'Flank|ZNF148_ENST00000492394.1_Splice_Site	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148						cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTGTAAGGATCTAGTTCAAAA	0.308																																						ENST00000360647.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.e6-1		zinc finger protein 148							78.0	83.0	81.0					3																	124998092		2203	4300	6503	SO:0001630	splice_region_variant	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124998092C>A	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.460-1G>T	3.37:g.124998092C>A						ZNF148_ENST00000484491.1_Splice_Site|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Splice_Site|ZNF148_ENST00000497929.1_Splice_Site|ZNF148_ENST00000492394.1_Splice_Site|ZNF148_ENST00000468369.1_Intron		NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN			6	945	-								D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Splice_Site	SNP	ENST00000360647.4	37		CCDS3031.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.728697	0.69074	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866;ENST00000543574	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5398	0.91023	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF148	126480782	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.793000	0.75130	2.616000	0.88540	0.585000	0.79938	.		0.308	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964	Intron	4	25	1	0	3.59834e-05	1	3.80503e-05	4	25				
ZNF248	57209	broad.mit.edu	37	10	38121522	38121522	+	Missense_Mutation	SNP	C	C	T	rs556979147		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:38121522C>T	ENST00000395867.3	-	6	1311	c.761G>A	c.(760-762)aGt>aAt	p.S254N	ZNF248_ENST00000374648.3_Intron|AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.S254N	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CAGCTTTAAACTTTCAATGAA	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		18113	0.001		0.0	False		,,,				2504	0.0					ENST00000395867.3																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(760-762)aGt>aAt		zinc finger protein 248							74.0	73.0	73.0					10																	38121522		2203	4299	6502	SO:0001583	missense	57209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38121522C>T	AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.761G>A	10.37:g.38121522C>T	ENSP00000379208:p.Ser254Asn					ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.S254N|ZNF248_ENST00000494133.1_Intron	p.S254N	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN			6	1311	-			254					Q8NDV8|Q9UMP3	Missense_Mutation	SNP	ENST00000395867.3	37	c.761G>A	CCDS7194.1	.	.	.	.	.	.	.	.	.	.	C	5.881	0.346628	0.11126	.	.	ENSG00000198105	ENST00000395867;ENST00000357328	T;T	0.15952	2.38;2.38	4.86	-0.544	0.11847	Zinc finger, C2H2 (1);	0.746214	0.12383	N	0.473728	T	0.10937	0.0267	L	0.33137	0.985	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.26608	-1.0098	10	0.49607	T	0.09	.	4.5358	0.12028	0.0:0.339:0.2937:0.3673	.	254	Q8NDW4	ZN248_HUMAN	N	254	ENSP00000379208:S254N;ENSP00000349882:S254N	ENSP00000349882:S254N	S	-	2	0	ZNF248	38161528	0.000000	0.05858	0.005000	0.12908	0.976000	0.68499	-3.233000	0.00547	-0.174000	0.10743	0.563000	0.77884	AGT		0.383	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045		6	25	0	0	0	1	0	6	25				
PLXNA4	91584	broad.mit.edu	37	7	131925848	131925848	+	Silent	SNP	A	A	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:131925848A>G	ENST00000359827.3	-	5	2543	c.1581T>C	c.(1579-1581)tgT>tgC	p.C527C	PLXNA4_ENST00000321063.4_Silent_p.C527C			Q9HCM2	PLXA4_HUMAN	plexin A4	527	PSI 1.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACACCAGCCACAGTGGGGGT	0.592																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(1579-1581)tgT>tgC		plexin A4							38.0	45.0	43.0					7																	131925848		2146	4278	6424	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131925848A>G	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1581T>C	7.37:g.131925848A>G						PLXNA4_ENST00000321063.4_Silent_p.C527C	p.C527C			Q9HCM2	PLXA4_HUMAN			5	2543	-			527			PSI 1.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.1581T>C	CCDS43646.1																																																																																				0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		8	15	0	0	0	1	0	8	15				
YLPM1	56252	broad.mit.edu	37	14	75248853	75248853	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:75248853C>A	ENST00000552421.1	+	4	2231	c.2107C>A	c.(2107-2109)Cct>Act	p.P703T	YLPM1_ENST00000325680.7_Missense_Mutation_p.P703T|YLPM1_ENST00000238571.3_Missense_Mutation_p.P508T			P49750	YLPM1_HUMAN	YLP motif containing 1	508					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTCAAAAGCTCCTTTGAGCAA	0.488																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(2107-2109)Cct>Act		YLP motif containing 1							95.0	92.0	93.0					14																	75248853		1985	4170	6155	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75248853C>A	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.2107C>A	14.37:g.75248853C>A	ENSP00000447921:p.Pro703Thr					YLPM1_ENST00000238571.3_Missense_Mutation_p.P508T|YLPM1_ENST00000552421.1_Missense_Mutation_p.P703T	p.P703T	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	4	2231	+			508					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.2107C>A		.	.	.	.	.	.	.	.	.	.	C	14.84	2.655919	0.47467	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.19	3.38	0.38709	.	0.170131	0.42548	D	0.000688	T	0.29882	0.0747	N	0.24115	0.695	0.31545	N	0.65948	P	0.35575	0.51	B	0.36666	0.23	T	0.38908	-0.9639	9	0.66056	D	0.02	-1.9259	10.9324	0.47226	0.0:0.8489:0.0:0.1511	.	703	P49750-4	.	T	703;703;508;416	.	ENSP00000238571:P508T	P	+	1	0	YLPM1	74318606	0.971000	0.33674	1.000000	0.80357	0.961000	0.63080	0.964000	0.29306	0.888000	0.36160	-0.136000	0.14681	CCT		0.488	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		13	47	1	0	0.0931896	1	0.0943544	13	47				
SOCS3	9021	broad.mit.edu	37	17	76354722	76354722	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:76354722G>A	ENST00000330871.2	-	2	870	c.455C>T	c.(454-456)tCt>tTt	p.S152F	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	152					branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			TGGCTGGGCAGACGGCTGCTC	0.662																																						ENST00000330871.2																			0				kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6						c.(454-456)tCt>tTt		suppressor of cytokine signaling 3							16.0	20.0	19.0					17																	76354722		2189	4276	6465	SO:0001583	missense	9021				anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity	g.chr17:76354722G>A	AB004904	CCDS11756.1	17q25.3	2014-09-17						"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.455C>T	17.37:g.76354722G>A	ENSP00000330341:p.Ser152Phe						p.S152F	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)		2	870	-			152					O14509	Missense_Mutation	SNP	ENST00000330871.2	37	c.455C>T	CCDS11756.1	.	.	.	.	.	.	.	.	.	.	G	5.287	0.238435	0.10023	.	.	ENSG00000184557	ENST00000330871	T	0.47528	0.84	3.73	2.66	0.31614	SH2 motif (1);	0.502040	0.18739	N	0.132508	T	0.26195	0.0639	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.11641	-1.0579	10	0.13470	T	0.59	-1.133	6.4521	0.21910	0.2142:0.0:0.7858:0.0	.	152	O14543	SOCS3_HUMAN	F	152	ENSP00000330341:S152F	ENSP00000330341:S152F	S	-	2	0	SOCS3	73866317	0.114000	0.22134	0.871000	0.34182	0.846000	0.48090	0.845000	0.27668	1.911000	0.55334	0.462000	0.41574	TCT		0.662	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437300.1			11	25	0	0	0	1	0	11	25				
LRRC71	149499	broad.mit.edu	37	1	156901815	156901815	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:156901815C>T	ENST00000337428.7	+	13	1591	c.1437C>T	c.(1435-1437)ctC>ctT	p.L479L	LRRC71_ENST00000490146.1_3'UTR|ARHGEF11_ENST00000487682.1_5'Flank	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	479										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						ACCTCAACCTCATCCGTATGT	0.577																																						ENST00000337428.7																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						c.(1435-1437)ctC>ctT		leucine rich repeat containing 71							67.0	71.0	70.0					1																	156901815		2058	4189	6247	SO:0001819	synonymous_variant	149499							g.chr1:156901815C>T	BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 92"""	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.1437C>T	1.37:g.156901815C>T						LRRC71_ENST00000490146.1_3'UTR	p.L479L	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN			13	1591	+			479					Q96M24	Silent	SNP	ENST00000337428.7	37	c.1437C>T	CCDS44249.1																																																																																				0.577	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098961.1	NM_144702		4	6	0	0	0	1	0	4	6				
MMP16	4325	broad.mit.edu	37	8	89180146	89180146	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr8:89180146C>T	ENST00000286614.6	-	4	742	c.461G>A	c.(460-462)cGt>cAt	p.R154H	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	154					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	ATCAAAGGCACGGCGAATAGC	0.368																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(460-462)cGt>cAt		matrix metallopeptidase 16 (membrane-inserted)							112.0	101.0	104.0					8																	89180146		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89180146C>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.461G>A	8.37:g.89180146C>T	ENSP00000286614:p.Arg154His					MMP16_ENST00000544227.1_5'UTR	p.R154H	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			4	742	-			154					B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.461G>A	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	36	5.712891	0.96830	.	.	ENSG00000156103	ENST00000286614	T	0.23552	1.9	6.16	6.16	0.99307	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	M	0.69248	2.105	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.65233	0.882;0.933	T	0.34054	-0.9844	10	0.51188	T	0.08	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	154;154	P51512-2;P51512	.;MMP16_HUMAN	H	154	ENSP00000286614:R154H	ENSP00000286614:R154H	R	-	2	0	MMP16	89249262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.754000	0.85163	2.937000	0.99478	0.650000	0.86243	CGT		0.368	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		4	18	0	0	0	1	0	4	18				
ITGB1BP2	26548	broad.mit.edu	37	X	70523745	70523745	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:70523745A>C	ENST00000373829.3	+	8	696	c.623A>C	c.(622-624)cAt>cCt	p.H208P	ITGB1BP2_ENST00000465388.1_3'UTR|ITGB1BP2_ENST00000538820.1_Missense_Mutation_p.H190P	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	208	CHORD 2. {ECO:0000255|PROSITE- ProRule:PRU00734}.				muscle organ development (GO:0007517)|signal transduction (GO:0007165)	Z disc (GO:0030018)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					GTCGGTAGACATGACTGGGGG	0.502																																						ENST00000538820.1																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14						c.(568-570)cAt>cCt		integrin beta 1 binding protein (melusin) 2							44.0	39.0	41.0					X																	70523745		2203	4299	6502	SO:0001583	missense	26548				muscle organ development|signal transduction		SH3 domain binding	g.chrX:70523745A>C	AF140690	CCDS14411.1	Xq12.1-q13	2008-02-05			ENSG00000147166	ENSG00000147166			6154	protein-coding gene	gene with protein product		300332				10506186	Standard	XM_005262255		Approved	CHORDC3	uc004dzr.1	Q9UKP3	OTTHUMG00000021793	ENST00000373829.3:c.623A>C	X.37:g.70523745A>C	ENSP00000362935:p.His208Pro					ITGB1BP2_ENST00000373829.3_Missense_Mutation_p.H208P|ITGB1BP2_ENST00000465388.1_3'UTR	p.H190P			Q9UKP3	ITBP2_HUMAN			7	909	+	Renal(35;0.156)		208			CHORD 2.|Cys-rich.		Q32N04|Q549J7	Missense_Mutation	SNP	ENST00000373829.3	37	c.569A>C	CCDS14411.1	.	.	.	.	.	.	.	.	.	.	a	16.01	3.001997	0.54254	.	.	ENSG00000147166	ENST00000373829;ENST00000538820	.	.	.	5.17	5.17	0.71159	HSP20-like chaperone (1);Cysteine/histidine-rich domain (2);	0.000000	0.85682	D	0.000000	D	0.85570	0.5727	H	0.95574	3.69	0.58432	D	0.999999	D;D	0.89917	0.997;1.0	D;D	0.97110	0.995;1.0	D	0.88504	0.3084	9	0.87932	D	0	-7.8231	10.0376	0.42137	1.0:0.0:0.0:0.0	.	190;208	Q32N04;Q9UKP3	.;ITBP2_HUMAN	P	208;190	.	ENSP00000362935:H208P	H	+	2	0	ITGB1BP2	70440470	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.306000	0.72810	1.894000	0.54839	0.486000	0.48141	CAT		0.502	ITGB1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057126.1	NM_012278		10	15	0	0	0	1	0	10	15				
FAM175A	84142	broad.mit.edu	37	4	84391361	84391361	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:84391361T>G	ENST00000321945.7	-	5	579	c.471A>C	c.(469-471)caA>caC	p.Q157H	FAM175A_ENST00000505489.1_5'UTR|FAM175A_ENST00000506553.1_Missense_Mutation_p.Q108H	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	157					chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						TTTACCCTTTTTGAGGTTTAT	0.318																																						ENST00000321945.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						c.(469-471)caA>caC		family with sequence similarity 175, member A							53.0	55.0	55.0					4																	84391361		2203	4300	6503	SO:0001583	missense	84142				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding	g.chr4:84391361T>G	AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"""Abraxas protein"""	611143	"""coiled-coil domain containing 98"""	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.471A>C	4.37:g.84391361T>G	ENSP00000369857:p.Gln157His					FAM175A_ENST00000506553.1_Missense_Mutation_p.Q108H|FAM175A_ENST00000505489.1_5'UTR	p.Q157H	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN			5	579	-			157					A5JJ07|Q9H8I1|Q9H9N4	Missense_Mutation	SNP	ENST00000321945.7	37	c.471A>C	CCDS3605.2	.	.	.	.	.	.	.	.	.	.	T	16.18	3.049473	0.55218	.	.	ENSG00000163322	ENST00000321945;ENST00000506553;ENST00000511801	T;T	0.46063	0.88;0.88	5.9	-2.13	0.07144	.	0.105878	0.64402	D	0.000003	T	0.29976	0.0750	L	0.39633	1.23	0.80722	D	1	P	0.50528	0.936	P	0.46320	0.512	T	0.27872	-1.0061	10	0.14252	T	0.57	-19.7179	8.9265	0.35643	0.0:0.4283:0.104:0.4677	.	157	Q6UWZ7	F175A_HUMAN	H	157;108;108	ENSP00000369857:Q157H;ENSP00000426763:Q108H	ENSP00000369857:Q157H	Q	-	3	2	FAM175A	84610385	0.994000	0.37717	0.899000	0.35326	0.985000	0.73830	0.146000	0.16180	-0.004000	0.14419	-0.376000	0.06991	CAA		0.318	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	NM_139076		7	29	0	0	0	1	0	7	29				
CSAD	51380	broad.mit.edu	37	12	53554913	53554913	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:53554913C>G	ENST00000444623.1	-	12	1149	c.882G>C	c.(880-882)caG>caC	p.Q294H	CSAD_ENST00000379846.1_Missense_Mutation_p.Q147H|RP11-1136G11.8_ENST00000550908.1_lincRNA|CSAD_ENST00000453446.2_Missense_Mutation_p.Q294H|CSAD_ENST00000267085.4_Missense_Mutation_p.Q321H|CSAD_ENST00000379843.3_Missense_Mutation_p.Q147H	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	294					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	GTATGCACCTCTGGATCCCAT	0.577																																					Ovarian(109;252 1546 16882 28524 44645)	ENST00000267085.4																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14						c.(961-963)caG>caC		cysteine sulfinic acid decarboxylase	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						75.0	70.0	72.0					12																	53554913		2203	4300	6503	SO:0001583	missense	51380				carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity	g.chr12:53554913C>G	AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"""P-selectin cytoplasmic tail-associated protein"""					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.882G>C	12.37:g.53554913C>G	ENSP00000415485:p.Gln294His					CSAD_ENST00000379846.1_Missense_Mutation_p.Q147H|CSAD_ENST00000379843.3_Missense_Mutation_p.Q147H|CSAD_ENST00000444623.1_Missense_Mutation_p.Q294H|CSAD_ENST00000453446.2_Missense_Mutation_p.Q294H	p.Q321H	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN			12	1196	-			294					A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	ENST00000444623.1	37	c.963G>C	CCDS58235.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.18|10.18	1.279654|1.279654	0.23307|0.23307	.|.	.|.	ENSG00000139631|ENSG00000139631	ENST00000379850|ENST00000308926;ENST00000379843;ENST00000267085;ENST00000379846;ENST00000444623;ENST00000398047;ENST00000453446	.|T;T;T;T;T	.|0.37752	.|1.18;1.18;1.18;1.18;1.18	4.42|4.42	3.52|3.52	0.40303|0.40303	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.363683	.|0.30649	.|N	.|0.009179	T|T	0.10895|0.10895	0.0266|0.0266	N|N	0.01257|0.01257	-0.925|-0.925	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.06405	.|0.001;0.001;0.002	T|T	0.06391|0.06391	-1.0829|-1.0829	5|10	.|0.33940	.|T	.|0.23	-30.1042|-30.1042	3.0876|3.0876	0.06283|0.06283	0.1744:0.5279:0.2:0.0976|0.1744:0.5279:0.2:0.0976	.|.	.|321;294;147	.|Q9Y600-3;Q9Y600;Q9Y600-2	.|.;CSAD_HUMAN;.	Q|H	320|383;147;321;147;294;255;294	.|ENSP00000369172:Q147H;ENSP00000267085:Q321H;ENSP00000369175:Q147H;ENSP00000415485:Q294H;ENSP00000410648:Q294H	.|ENSP00000267085:Q321H	E|Q	-|-	1|3	0|2	CSAD|CSAD	51841180|51841180	0.963000|0.963000	0.33076|0.33076	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	0.071000|0.071000	0.14594|0.14594	1.195000|1.195000	0.43115|0.43115	0.555000|0.555000	0.69702|0.69702	GAG|CAG		0.577	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989		5	15	0	0	0	1	0	5	15				
ARMC4	55130	broad.mit.edu	37	10	28250520	28250520	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:28250520G>A	ENST00000305242.5	-	10	1455	c.1363C>T	c.(1363-1365)Cag>Tag	p.Q455*	ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000537576.1_Nonsense_Mutation_p.Q147*|ARMC4_ENST00000239715.3_Nonsense_Mutation_p.Q312*|ARMC4_ENST00000480504.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	455					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACCAGCTTCTGAATTTGCCAA	0.388																																						ENST00000305242.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(1363-1365)Cag>Tag		armadillo repeat containing 4							65.0	67.0	66.0					10																	28250520		2203	4300	6503	SO:0001587	stop_gained	55130						binding	g.chr10:28250520G>A	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1363C>T	10.37:g.28250520G>A	ENSP00000306410:p.Gln455*					ARMC4_ENST00000239715.3_Nonsense_Mutation_p.Q312*|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000537576.1_Nonsense_Mutation_p.Q147*|ARMC4_ENST00000480504.1_5'UTR	p.Q455*	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN			10	1455	-			455					A8K906|B7Z7I1|Q9H0C0	Nonsense_Mutation	SNP	ENST00000305242.5	37	c.1363C>T	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	G	38	7.038556	0.98021	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000537573;ENST00000434029;ENST00000239715	.	.	.	5.4	5.4	0.78164	.	0.109070	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-24.6433	18.3066	0.90184	0.0:0.0:1.0:0.0	.	.	.	.	X	147;455;147;349;312	.	ENSP00000239715:Q312X	Q	-	1	0	ARMC4	28290526	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.485000	0.90448	2.677000	0.91161	0.650000	0.86243	CAG		0.388	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		7	18	0	0	0	1	0	7	18				
CAPN6	827	broad.mit.edu	37	X	110507164	110507164	+	Start_Codon_SNP	SNP	T	T	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:110507164T>C	ENST00000324068.1	-	2	168	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CAPN6_ENST00000541758.1_5'Flank	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	1					microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GGAGGACCCATAGTGTTGAAC	0.408																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(1-3)Atg>Gtg		calpain 6							183.0	164.0	170.0					X																	110507164		2203	4300	6503	SO:0001582	initiator_codon_variant	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110507164T>C	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1A>G	X.37:g.110507164T>C	ENSP00000317214:p.Met1Val						p.M1V	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			2	168	-			1					D3DUY7|Q9UEQ1|Q9UJA8	Translation_Start_Site	SNP	ENST00000324068.1	37	c.1A>G	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.594162	0.46214	.	.	ENSG00000077274	ENST00000324068	D	0.87571	-2.27	5.53	5.53	0.82687	.	0.043367	0.85682	D	0.000000	D	0.84754	0.5542	.	.	.	0.80722	D	1	D	0.53151	0.958	B	0.41894	0.369	D	0.86455	0.1775	9	0.87932	D	0	.	12.1567	0.54081	0.0:0.0:0.0:1.0	.	1	Q9Y6Q1	CAN6_HUMAN	V	1	ENSP00000317214:M1V	ENSP00000317214:M1V	M	-	1	0	CAPN6	110393820	0.999000	0.42202	0.877000	0.34402	0.983000	0.72400	5.026000	0.64103	1.857000	0.53885	0.437000	0.28790	ATG		0.408	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1		Missense_Mutation	41	52	0	0	0	1	0	41	52				
IRX6	79190	broad.mit.edu	37	16	55360337	55360337	+	Silent	SNP	C	C	T	rs139857215	byFrequency	TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:55360337C>T	ENST00000290552.7	+	2	1467	c.135C>T	c.(133-135)ccC>ccT	p.P45P	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	45					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCCCAGCGCCCGCTCTCTGCT	0.637													C|||	2	0.000399361	0.0015	0.0	5008	,	,		11463	0.0		0.0	False		,,,				2504	0.0					ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(133-135)ccC>ccT		iroquois homeobox 6		C		20,4376	27.2+/-55.0	0,20,2178	42.0	39.0	40.0		135	-10.4	0.0	16	dbSNP_134	40	0,8600		0,0,4300	no	coding-synonymous	IRX6	NM_024335.2		0,20,6478	TT,TC,CC		0.0,0.455,0.1539		45/447	55360337	20,12976	2198	4300	6498	SO:0001819	synonymous_variant	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55360337C>T	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.135C>T	16.37:g.55360337C>T						RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	p.P45P	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			2	1467	+			45					B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	c.135C>T	CCDS32449.1																																																																																				0.637	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		10	35	0	0	0	1	0	10	35				
SORL1	6653	broad.mit.edu	37	11	121461593	121461593	+	Intron	SNP	G	G	C	rs2282647	byFrequency	TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:121461593G>C	ENST00000260197.7	+	31	4342				SORL1_ENST00000532694.1_Intron|SORL1_ENST00000525532.1_Intron|SORL1_ENST00000527934.1_Missense_Mutation_p.W15C|SORL1_ENST00000534286.1_Intron	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing						cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCAGTCACTGGCCTCCCTCAG	0.463											OREG0021431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	383	0.0764776	0.0446	0.0375	5008	,	,		21230	0.1944		0.0278	False		,,,				2504	0.0757					ENST00000527934.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(43-45)tgG>tgC		sortilin-related receptor, L(DLR class) A repeats containing																																				SO:0001627	intron_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121461593G>C	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.4214-117G>C	11.37:g.121461593G>C			OREG0021431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1511	SORL1_ENST00000260197.7_Intron|SORL1_ENST00000532694.1_Intron|SORL1_ENST00000525532.1_Intron|SORL1_ENST00000534286.1_Intron	p.W15C			Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	1	466	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1216					B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.45G>C	CCDS8436.1	176	0.08058608058608059	30	0.06097560975609756	10	0.027624309392265192	114	0.1993006993006993	22	0.029023746701846966	G	0.874	-0.731143	0.03135	.	.	ENSG00000137642	ENST00000527934	D	0.86230	-2.09	2.97	0.533	0.17121	.	.	.	.	.	T	0.00241	0.0007	.	.	.	0.80722	P	0.0	P	0.35700	0.516	B	0.25140	0.058	T	0.04537	-1.0944	7	0.87932	D	0	.	5.108	0.14794	0.3603:0.0:0.6397:0.0	rs2282647;rs2282647	15	E9PKB0	.	C	15	ENSP00000435405:W15C	ENSP00000435405:W15C	W	+	3	0	SORL1	120966803	0.008000	0.16893	0.001000	0.08648	0.073000	0.16967	0.625000	0.24477	0.110000	0.17919	-0.136000	0.14681	TGG		0.463	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		4	69	0	0	0	1	0	4	69				
WDR59	79726	broad.mit.edu	37	16	74957842	74957842	+	Silent	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:74957842G>C	ENST00000262144.6	-	9	841	c.711C>G	c.(709-711)gtC>gtG	p.V237V		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	237										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TGGCCTTCCAGACAGGCACCT	0.463																																						ENST00000262144.6																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(709-711)gtC>gtG		WD repeat domain 59							53.0	52.0	52.0					16																	74957842		2198	4300	6498	SO:0001819	synonymous_variant	79726							g.chr16:74957842G>C	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.711C>G	16.37:g.74957842G>C							p.V237V	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			9	841	-			237					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Silent	SNP	ENST00000262144.6	37	c.711C>G	CCDS32488.1																																																																																				0.463	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		4	9	0	0	0	1	0	4	9				
MCF2L2	23101	broad.mit.edu	37	3	183059382	183059382	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:183059382G>A	ENST00000328913.3	-	4	609	c.312C>T	c.(310-312)atC>atT	p.I104I	MCF2L2_ENST00000414362.2_Silent_p.I104I|MCF2L2_ENST00000473233.1_Silent_p.I104I|MCF2L2_ENST00000447025.2_Silent_p.I104I	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	104	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTCGTCTGTCGATAACAACAA	0.423																																						ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(310-312)atC>atT		MCF.2 cell line derived transforming sequence-like 2							104.0	98.0	100.0					3																	183059382		2203	4300	6503	SO:0001819	synonymous_variant	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183059382G>A	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.312C>T	3.37:g.183059382G>A						MCF2L2_ENST00000447025.2_Silent_p.I104I|MCF2L2_ENST00000473233.1_Silent_p.I104I|MCF2L2_ENST00000414362.2_Silent_p.I104I	p.I104I	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		4	609	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		104			CRAL-TRIO.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	ENST00000328913.3	37	c.312C>T	CCDS3243.1																																																																																				0.423	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		8	23	0	0	0	1	0	8	23				
RABGGTA	5875	broad.mit.edu	37	14	24737595	24737595	+	Silent	SNP	C	C	T	rs368480869		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:24737595C>T	ENST00000399409.3	-	10	1521	c.1038G>A	c.(1036-1038)acG>acA	p.T346T	RABGGTA_ENST00000560777.1_Intron|RABGGTA_ENST00000559586.1_5'Flank|RABGGTA_ENST00000216840.6_Silent_p.T346T	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	346					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GCTCGTCTGTCGTGGAGTCCC	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14324	0.0		0.0	False		,,,				2504	0.0					ENST00000399409.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12						c.(1036-1038)acG>acA		Rab geranylgeranyltransferase, alpha subunit							61.0	57.0	59.0					14																	24737595		1948	4137	6085	SO:0001819	synonymous_variant	5875				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	g.chr14:24737595C>T		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.1038G>A	14.37:g.24737595C>T						RABGGTA_ENST00000216840.6_Silent_p.T346T|RABGGTA_ENST00000560777.1_Intron	p.T346T	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	10	1521	-			346					A8K5N2|D3DS69	Silent	SNP	ENST00000399409.3	37	c.1038G>A	CCDS45088.1																																																																																				0.622	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836		13	53	0	0	0	1	0	13	53				
PGRMC1	10857	broad.mit.edu	37	X	118370343	118370343	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:118370343T>C	ENST00000217971.7	+	1	128	c.17T>C	c.(16-18)gTg>gCg	p.V6A	PGRMC1_ENST00000535419.1_Missense_Mutation_p.V6A	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	6					axon guidance (GO:0007411)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	heme binding (GO:0020037)|steroid binding (GO:0005496)			lung(6)	6					Dextromethorphan(DB00514)|Nortriptyline(DB00540)	GCCGAGGATGTGGTGGCGACT	0.637																																						ENST00000217971.7																			0				lung(6)	6						c.(16-18)gTg>gCg		progesterone receptor membrane component 1							29.0	27.0	28.0					X																	118370343		2193	4291	6484	SO:0001583	missense	10857					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding	g.chrX:118370343T>C		CCDS14576.1, CCDS65313.1	Xq22-q24	2005-11-29			ENSG00000101856	ENSG00000101856			16090	protein-coding gene	gene with protein product		300435				9705155	Standard	NM_006667		Approved	HPR6.6	uc004erb.3	O00264	OTTHUMG00000022268	ENST00000217971.7:c.17T>C	X.37:g.118370343T>C	ENSP00000217971:p.Val6Ala					PGRMC1_ENST00000535419.1_Missense_Mutation_p.V6A	p.V6A	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN			1	128	+			6					B7Z1L3|Q9UGJ9	Missense_Mutation	SNP	ENST00000217971.7	37	c.17T>C	CCDS14576.1	.	.	.	.	.	.	.	.	.	.	.	10.83	1.461225	0.26248	.	.	ENSG00000101856	ENST00000217971;ENST00000535419	T;T	0.77229	-0.98;-1.08	4.04	2.86	0.33363	.	0.481828	0.19833	N	0.105056	T	0.55768	0.1941	L	0.29908	0.895	0.22253	N	0.999256	P;B	0.34662	0.462;0.001	B;B	0.28638	0.092;0.003	T	0.43766	-0.9371	10	0.07813	T	0.8	-3.9771	5.2904	0.15723	0.0:0.242:0.0:0.758	.	6;6	B7Z1L3;O00264	.;PGRC1_HUMAN	A	6	ENSP00000217971:V6A;ENSP00000442821:V6A	ENSP00000217971:V6A	V	+	2	0	PGRMC1	118254371	0.765000	0.28485	1.000000	0.80357	0.729000	0.41735	-0.033000	0.12246	0.541000	0.28827	-0.895000	0.02911	GTG		0.637	PGRMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058024.1	NM_006667		18	29	0	0	0	1	0	18	29				
XKR3	150165	broad.mit.edu	37	22	17264575	17264575	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr22:17264575C>A	ENST00000331428.5	-	4	1416	c.1314G>T	c.(1312-1314)agG>agT	p.R438S		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	438						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GACAGTAATTCCTCAGCTGCT	0.348																																						ENST00000331428.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1312-1314)agG>agT		XK, Kell blood group complex subunit-related family, member 3							24.0	23.0	23.0					22																	17264575		337	1091	1428	SO:0001583	missense	150165					integral to membrane|plasma membrane		g.chr22:17264575C>A	AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.1314G>T	22.37:g.17264575C>A	ENSP00000331704:p.Arg438Ser						p.R438S	NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN			4	1416	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	438					B2RPN1|Q52PG8|Q8N7E1	Missense_Mutation	SNP	ENST00000331428.5	37	c.1314G>T	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	2.222	-0.378086	0.05000	.	.	ENSG00000172967	ENST00000331428	T	0.61859	0.07	0.762	-1.29	0.09288	.	0.718674	0.11942	U	0.514612	T	0.23727	0.0574	N	0.08118	0	0.09310	N	1	P	0.41232	0.743	B	0.26094	0.066	T	0.14727	-1.0462	10	0.44086	T	0.13	.	3.2471	0.06801	0.0:0.4054:0.0:0.5946	.	438	Q5GH77	XKR3_HUMAN	S	438	ENSP00000331704:R438S	ENSP00000331704:R438S	R	-	3	2	XKR3	15644575	0.590000	0.26815	0.001000	0.08648	0.113000	0.19764	0.786000	0.26844	-0.379000	0.07906	0.289000	0.19496	AGG		0.348	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		6	4	1	0	3.59834e-05	1	3.80503e-05	6	4				
NPR2	4882	broad.mit.edu	37	9	35810898	35810898	+	IGR	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:35810898C>T	ENST00000342694.2	+	0	3686				SPAG8_ENST00000484764.1_Missense_Mutation_p.V339I|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000396638.2_Missense_Mutation_p.V341I|SPAG8_ENST00000340291.2_Missense_Mutation_p.V341I|SPAG8_ENST00000479751.1_5'UTR|AL133410.1_ENST00000582432.1_RNA	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GGCCAATAGACGTTTCCTGGT	0.542																																						ENST00000340291.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1021-1023)Gtc>Atc		sperm associated antigen 8							101.0	107.0	105.0					9																	35810898		2203	4300	6503	SO:0001628	intergenic_variant	26206					acrosomal vesicle|membrane		g.chr9:35810898C>T	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35810898C>T						SPAG8_ENST00000484764.1_Missense_Mutation_p.V339I|SPAG8_ENST00000396638.2_Missense_Mutation_p.V341I|SPAG8_ENST00000479751.1_5'UTR	p.V341I	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		3	1145	-	all_epithelial(49;0.161)		341					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.1021G>A	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	C	0.038	-1.299155	0.01364	.	.	ENSG00000137098	ENST00000340291;ENST00000484764;ENST00000396638	T;T;T	0.29917	1.55;1.58;1.58	5.99	-6.32	0.01995	.	2.459610	0.01575	N	0.020775	T	0.07773	0.0195	N	0.00926	-1.1	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.15492	-1.0435	10	0.20046	T	0.44	3.1633	0.7215	0.00941	0.2102:0.2918:0.1969:0.3011	.	341;341	E9PDV6;Q99932-2	.;.	I	341;339;341	ENSP00000340982:V341I;ENSP00000418072:V339I;ENSP00000379878:V341I	ENSP00000340982:V341I	V	-	1	0	SPAG8	35800898	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.613000	0.05610	-0.698000	0.05085	-0.823000	0.03104	GTC		0.542	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			13	63	0	0	0	1	0	13	63				
INO80	54617	broad.mit.edu	37	15	41276075	41276075	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:41276075G>A	ENST00000361937.3	-	34	4546	c.4122C>T	c.(4120-4122)gaC>gaT	p.D1374D	INO80_ENST00000561244.1_5'Flank|INO80_ENST00000401393.3_Silent_p.D1374D			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1374	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGCTGCTCTCGTCCAGGGGAA	0.572																																						ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(4120-4122)gaC>gaT		INO80 complex subunit							107.0	88.0	95.0					15																	41276075		2203	4300	6503	SO:0001819	synonymous_variant	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41276075G>A	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.4122C>T	15.37:g.41276075G>A						INO80_ENST00000401393.3_Silent_p.D1374D	p.D1374D			Q9ULG1	INO80_HUMAN			34	4546	-			1374			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Silent	SNP	ENST00000361937.3	37	c.4122C>T	CCDS10071.1																																																																																				0.572	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		8	39	0	0	0	1	0	8	39				
LRRC73	221424	broad.mit.edu	37	6	43475269	43475269	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:43475269C>T	ENST00000372441.1	-	5	1705	c.805G>A	c.(805-807)Gac>Aac	p.D269N		NM_001012974.1	NP_001012992.1	Q5JTD7	LRC73_HUMAN	leucine rich repeat containing 73	269																	TCCTGGGTGTCGCCAGCCCCT	0.617																																						ENST00000372441.1																			0											c.(805-807)Gac>Aac		leucine rich repeat containing 73							29.0	35.0	33.0					6																	43475269		2202	4298	6500	SO:0001583	missense	221424							g.chr6:43475269C>T		CCDS34456.1	6p21.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000204052	ENSG00000204052			21375	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 154"""	C6orf154			Standard	NM_001012974		Approved	dJ337H4.2	uc003ovk.2	Q5JTD7	OTTHUMG00000014737	ENST00000372441.1:c.805G>A	6.37:g.43475269C>T	ENSP00000361518:p.Asp269Asn						p.D269N	NM_001012974.1	NP_001012992.1	Q5JTD7	CF154_HUMAN			5	1705	-			269						Missense_Mutation	SNP	ENST00000372441.1	37	c.805G>A	CCDS34456.1	.	.	.	.	.	.	.	.	.	.	C	9.125	1.009911	0.19277	.	.	ENSG00000204052	ENST00000372441	T	0.35048	1.33	5.26	1.34	0.21922	.	0.856964	0.10396	N	0.679841	T	0.06280	0.0162	N	0.22421	0.69	0.30967	N	0.722973	B	0.33857	0.429	B	0.21546	0.035	T	0.32161	-0.9917	10	0.13108	T	0.6	-10.322	7.0916	0.25287	0.0:0.5843:0.2626:0.1531	.	269	Q5JTD7	CF154_HUMAN	N	269	ENSP00000361518:D269N	ENSP00000361518:D269N	D	-	1	0	C6orf154	43583247	0.825000	0.29262	0.581000	0.28614	0.954000	0.61252	0.613000	0.24299	0.367000	0.24454	-0.137000	0.14449	GAC		0.617	LRRC73-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040635.1	NM_001012974		10	34	0	0	0	1	0	10	34				
SEMG2	6407	broad.mit.edu	37	20	43851824	43851824	+	Silent	SNP	A	A	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr20:43851824A>G	ENST00000372769.3	+	2	1641	c.1551A>G	c.(1549-1551)caA>caG	p.Q517Q		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	517	Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ATCAAGATCAATGGTCTGGCC	0.403																																						ENST00000372769.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1549-1551)caA>caG		semenogelin II							89.0	80.0	83.0					20																	43851824		2203	4300	6503	SO:0001819	synonymous_variant	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43851824A>G		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.1551A>G	20.37:g.43851824A>G							p.Q517Q	NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN			2	1641	+		Myeloproliferative disorder(115;0.0122)	517			Repeat-rich region.		Q53ZU2|Q6X2M5|Q6X2M6	Silent	SNP	ENST00000372769.3	37	c.1551A>G	CCDS13346.1																																																																																				0.403	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		11	24	0	0	0	1	0	11	24				
MARCKSL1	65108	broad.mit.edu	37	1	32800238	32800238	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:32800238T>A	ENST00000329421.7	-	2	893	c.548A>T	c.(547-549)gAg>gTg	p.E183V		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	183					positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGGGCCACTCTCCGGCCCCGA	0.617																																						ENST00000329421.7																			0				breast(1)|large_intestine(3)|lung(1)|ovary(1)	6						c.(547-549)gAg>gTg		MARCKS-like 1							53.0	51.0	52.0					1																	32800238		2203	4300	6503	SO:0001583	missense	65108					plasma membrane	calmodulin binding	g.chr1:32800238T>A	AF031640	CCDS361.1	1p35.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000175130	ENSG00000175130			7142	protein-coding gene	gene with protein product		602940	"""MARCKS-like protein"""	MLP		9598313	Standard	NM_023009		Approved	F52, MacMARCKS, MLP1	uc001bvd.4	P49006	OTTHUMG00000007589	ENST00000329421.7:c.548A>T	1.37:g.32800238T>A	ENSP00000362638:p.Glu183Val						p.E183V	NM_023009.6	NP_075385.1	P49006	MRP_HUMAN			2	893	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	183					D3DPQ0|Q5TEE6|Q6NXS5	Missense_Mutation	SNP	ENST00000329421.7	37	c.548A>T	CCDS361.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.747192	0.49257	.	.	ENSG00000175130	ENST00000329421	T	0.47528	0.84	5.43	5.43	0.79202	.	0.278908	0.34460	N	0.003946	T	0.35856	0.0946	N	0.22421	0.69	0.45747	D	0.998645	P	0.41624	0.757	B	0.43728	0.429	T	0.30563	-0.9974	10	0.72032	D	0.01	-13.9901	6.5516	0.22438	0.1396:0.0757:0.0:0.7847	.	183	P49006	MRP_HUMAN	V	183	ENSP00000362638:E183V	ENSP00000362638:E183V	E	-	2	0	MARCKSL1	32572825	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	2.218000	0.42889	2.223000	0.72356	0.454000	0.30748	GAG		0.617	MARCKSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020059.3	NM_023009		17	42	0	0	0	1	0	17	42				
TSIX	9383	broad.mit.edu	37	X	73042146	73042146	+	lincRNA	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:73042146G>C	ENST00000604411.1	+	0	30107				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		GTAGTGGCCAGAGTGGTAGAA	0.413																																						ENST00000604411.1																			0																				34.0	31.0	32.0					X																	73042146		876	1991	2867			9383							g.chrX:73042146G>C			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73042146G>C						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	30107	+									RNA	SNP	ENST00000604411.1	37																																																																																						0.413	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		6	12	0	0	0	1	0	6	12				
TGFB1I1	7041	broad.mit.edu	37	16	31487352	31487352	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:31487352G>A	ENST00000394863.3	+	8	864	c.734G>A	c.(733-735)cGc>cAc	p.R245H	TGFB1I1_ENST00000394858.2_Missense_Mutation_p.R228H|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.R228H|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.R228H	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	245	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						GCTCTGGGCCGCGCCTGGCAC	0.652																																						ENST00000394863.3																			0				lung(8)|upper_aerodigestive_tract(1)	9						c.(733-735)cGc>cAc		transforming growth factor beta 1 induced transcript 1							52.0	52.0	52.0					16																	31487352		2197	4300	6497	SO:0001583	missense	7041				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding	g.chr16:31487352G>A	AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.734G>A	16.37:g.31487352G>A	ENSP00000378332:p.Arg245His					TGFB1I1_ENST00000567607.1_Missense_Mutation_p.R228H|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.R228H|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.R228H	p.R245H	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN			8	864	+			245			LIM zinc-binding 1.		B2R8D5|Q9BPW3|Q9Y2V5	Missense_Mutation	SNP	ENST00000394863.3	37	c.734G>A	CCDS42156.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616471	0.46736	.	.	ENSG00000140682	ENST00000394863;ENST00000361773;ENST00000394858	D;D;D	0.87491	-2.26;-2.26;-2.26	5.32	4.37	0.52481	Zinc finger, LIM-type (5);	0.204155	0.46145	N	0.000315	T	0.81875	0.4915	L	0.49455	1.56	0.26320	N	0.977682	B	0.25105	0.118	B	0.21708	0.036	T	0.73313	-0.4022	10	0.48119	T	0.1	.	8.5644	0.33531	0.1754:0.0:0.8246:0.0	.	245	O43294	TGFI1_HUMAN	H	245;228;228	ENSP00000378332:R245H;ENSP00000355117:R228H;ENSP00000378327:R228H	ENSP00000355117:R228H	R	+	2	0	TGFB1I1	31394853	0.019000	0.18553	0.300000	0.25030	0.956000	0.61745	0.980000	0.29513	1.375000	0.46248	0.655000	0.94253	CGC		0.652	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255630.3			12	60	0	0	0	1	0	12	60				
DNAJB5	25822	broad.mit.edu	37	9	34996641	34996641	+	Silent	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:34996641C>G	ENST00000541010.1	+	2	3603	c.591C>G	c.(589-591)ctC>ctG	p.L197L	DNAJB5_ENST00000312316.5_Silent_p.L197L|DNAJB5_ENST00000453597.3_Silent_p.L311L|DNAJB5_ENST00000454002.2_Silent_p.L269L|DNAJB5_ENST00000545841.1_Silent_p.L197L|DNAJB5_ENST00000335998.3_Silent_p.L231L			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	197					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			GGCGTCGCCTCAACCCTGATG	0.592																																						ENST00000541010.1																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(589-591)ctC>ctG		DnaJ (Hsp40) homolog, subfamily B, member 5							53.0	49.0	50.0					9																	34996641		2203	4300	6503	SO:0001819	synonymous_variant	25822				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding	g.chr9:34996641C>G	AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"""Heat shock proteins / DNAJ (HSP40)"""	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.591C>G	9.37:g.34996641C>G						DNAJB5_ENST00000545841.1_Silent_p.L197L|DNAJB5_ENST00000312316.5_Silent_p.L197L|DNAJB5_ENST00000335998.3_Silent_p.L231L|DNAJB5_ENST00000453597.3_Silent_p.L311L|DNAJB5_ENST00000454002.2_Silent_p.L269L	p.L197L			O75953	DNJB5_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		2	3603	+			197					B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Silent	SNP	ENST00000541010.1	37	c.591C>G	CCDS35007.1																																																																																				0.592	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1			7	40	0	0	0	1	0	7	40				
SYT1	6857	broad.mit.edu	37	12	79611333	79611333	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:79611333G>A	ENST00000261205.4	+	4	691	c.34G>A	c.(34-36)Gcc>Acc	p.A12T	SYT1_ENST00000457153.2_Missense_Mutation_p.A12T|SYT1_ENST00000393240.3_Missense_Mutation_p.A12T|SYT1_ENST00000552744.1_Missense_Mutation_p.A12T	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	12					calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GGCCCTGGCAGCCCCGCCTGT	0.532																																						ENST00000261205.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						c.(34-36)Gcc>Acc		synaptotagmin I							46.0	46.0	46.0					12																	79611333		2203	4300	6503	SO:0001583	missense	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79611333G>A		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.34G>A	12.37:g.79611333G>A	ENSP00000261205:p.Ala12Thr					SYT1_ENST00000457153.2_Missense_Mutation_p.A12T|SYT1_ENST00000393240.3_Missense_Mutation_p.A12T|SYT1_ENST00000552744.1_Missense_Mutation_p.A12T	p.A12T	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN			4	691	+			12					Q6AI31	Missense_Mutation	SNP	ENST00000261205.4	37	c.34G>A	CCDS9017.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851007	0.71719	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552074;ENST00000547046;ENST00000549671;ENST00000551304;ENST00000552744;ENST00000552624;ENST00000446242	T;T;T;T;T;T	0.63580	-0.04;-0.04;-0.05;-0.04;1.46;2.06	5.51	5.51	0.81932	.	0.117813	0.56097	D	0.000021	T	0.63105	0.2483	M	0.64404	1.975	0.46478	D	0.99906	B;B	0.23058	0.079;0.079	B;B	0.21546	0.035;0.035	T	0.59215	-0.7496	10	0.38643	T	0.18	.	19.4105	0.94670	0.0:0.0:1.0:0.0	.	12;12	Q6AI31;P21579	.;SYT1_HUMAN	T	12	ENSP00000376932:A12T;ENSP00000261205:A12T;ENSP00000391056:A12T;ENSP00000447575:A12T;ENSP00000448861:A12T;ENSP00000401559:A12T	ENSP00000261205:A12T	A	+	1	0	SYT1	78135464	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	5.753000	0.68736	2.583000	0.87209	0.643000	0.83706	GCC		0.532	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		6	20	0	0	0	1	0	6	20				
TYMS	7298	broad.mit.edu	37	18	670729	670729	+	Silent	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr18:670729C>A	ENST00000323274.10	+	5	733	c.594C>A	c.(592-594)ctC>ctA	p.L198L	TYMS_ENST00000323250.5_Silent_p.L115L|TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323224.7_Silent_p.L164L	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	198					aging (GO:0007568)|cartilage development (GO:0051216)|circadian rhythm (GO:0007623)|deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|developmental growth (GO:0048589)|dTMP biosynthetic process (GO:0006231)|dTTP biosynthetic process (GO:0006235)|dUMP metabolic process (GO:0046078)|G1/S transition of mitotic cell cycle (GO:0000082)|immortalization of host cell by virus (GO:0019088)|intestinal epithelial cell maturation (GO:0060574)|mitotic cell cycle (GO:0000278)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|organ regeneration (GO:0031100)|polysaccharide metabolic process (GO:0005976)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to organophosphorus (GO:0046683)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|response to vitamin A (GO:0033189)|small molecule metabolic process (GO:0044281)|tetrahydrofolate metabolic process (GO:0046653)|uracil metabolic process (GO:0019860)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cofactor binding (GO:0048037)|drug binding (GO:0008144)|folic acid binding (GO:0005542)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|thymidylate synthase activity (GO:0004799)	p.L198L(1)		endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Raltitrexed(DB00293)|Trifluridine(DB00432)|Trimethoprim(DB00440)	GCCATGCCCTCTGCCAGTTCT	0.557																																						ENST00000323274.10																			1	Substitution - coding silent(1)	p.L198L(1)	lung(1)	endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8						c.(592-594)ctC>ctA		thymidylate synthetase	Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)						156.0	132.0	140.0					18																	670729		2203	4300	6503	SO:0001819	synonymous_variant	7298				DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity	g.chr18:670729C>A	X02308	CCDS11821.1	18p11.31-p11.21	2014-09-17			ENSG00000176890	ENSG00000176890	2.1.1.45		12441	protein-coding gene	gene with protein product		188350		TS			Standard	NM_001071		Approved	Tsase, TMS, HsT422	uc010dka.1	P04818	OTTHUMG00000131473	ENST00000323274.10:c.594C>A	18.37:g.670729C>A						TYMS_ENST00000323224.7_Silent_p.L164L|TYMS_ENST00000323250.5_Silent_p.L115L|TYMS_ENST00000581920.1_3'UTR	p.L198L	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN			5	733	+			198					Q8WYK3|Q8WYK4	Silent	SNP	ENST00000323274.10	37	c.594C>A	CCDS11821.1																																																																																				0.557	TYMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254316.1	NM_001071		21	64	1	0	2.89027e-11	1	3.18953e-11	21	64				
MALAT1	378938	broad.mit.edu	37	11	65270397	65270397	+	lincRNA	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:65270397G>T	ENST00000534336.1	+	0	5165					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		ATGAATTGATGAGAAATACAA	0.289																																						ENST00000534336.1																			0																				13.0	13.0	13.0					11																	65270397		874	1982	2856			378938							g.chr11:65270397G>T	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65270397G>T								NR_002819.2						0	5165	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.289	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		2	1	1	0	0.0016	1	0.00166581	2	1				
GLRA4	441509	broad.mit.edu	37	X	102978844	102978844	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:102978844G>A	ENST00000372617.4	-	5	937	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	173						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGGTCCATCAGGCAGGACAAA	0.527																																						ENST00000372617.4																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(517-519)Ctg>Ttg		glycine receptor, alpha 4							116.0	110.0	112.0					X																	102978844		2036	4175	6211	SO:0001819	synonymous_variant	441509					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:102978844G>A	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.517C>T	X.37:g.102978844G>A							p.L173L	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN			5	937	-			173						Silent	SNP	ENST00000372617.4	37	c.517C>T	CCDS43980.2																																																																																				0.527	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		36	29	0	0	0	1	0	36	29				
HNRNPL	3191	broad.mit.edu	37	19	39329240	39329240	+	Splice_Site	SNP	T	T	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:39329240T>C	ENST00000221419.5	-	10	1722		c.e10-2		AC104534.3_ENST00000594769.1_Splice_Site|HNRNPL_ENST00000600873.1_Splice_Site	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TTGGAGACACTGCAGCAAGGA	0.542																																						ENST00000221419.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.e10-2		heterogeneous nuclear ribonucleoprotein L							49.0	41.0	43.0					19																	39329240		2203	4300	6503	SO:0001630	splice_region_variant	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39329240T>C	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1356-2A>G	19.37:g.39329240T>C						AC104534.3_ENST00000594769.1_Splice_Site|HNRNPL_ENST00000600873.1_Splice_Site		NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		10	1722	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)							A6ND69|A6NIT8|Q9H3P3	Splice_Site	SNP	ENST00000221419.5	37		CCDS33015.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.947350	0.53186	.	.	ENSG00000104824	ENST00000221419;ENST00000388749;ENST00000388750	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5919	0.76537	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	HNRNPL	44021080	1.000000	0.71417	0.810000	0.32431	0.363000	0.29612	6.001000	0.70685	2.324000	0.78689	0.533000	0.62120	.		0.542	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1		Intron	6	12	0	0	0	1	0	6	12				
STRN4	29888	broad.mit.edu	37	19	47225314	47225314	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:47225314G>C	ENST00000263280.6	-	16	2070	c.2021C>G	c.(2020-2022)tCc>tGc	p.S674C	STRN4_ENST00000539396.1_Missense_Mutation_p.S555C|STRN4_ENST00000594357.2_5'Flank|STRN4_ENST00000391910.3_Missense_Mutation_p.S681C	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	674						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TGCAACCATGGAGTGCACCGG	0.617																																						ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(2041-2043)tCc>tGc		striatin, calmodulin binding protein 4							101.0	93.0	96.0					19																	47225314		2203	4300	6503	SO:0001583	missense	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47225314G>C	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.2021C>G	19.37:g.47225314G>C	ENSP00000263280:p.Ser674Cys					STRN4_ENST00000539396.1_Missense_Mutation_p.S555C|STRN4_ENST00000263280.6_Missense_Mutation_p.S674C	p.S681C			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	16	2492	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	674					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	c.2042C>G	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816437	0.90790	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.61392	0.11;0.11;0.11	4.99	4.99	0.66335	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72566	0.3476	L	0.56340	1.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.75048	-0.3455	10	0.87932	D	0	-29.8844	17.2132	0.86936	0.0:0.0:1.0:0.0	.	681;674	F8VYA6;Q9NRL3	.;STRN4_HUMAN	C	681;674;555	ENSP00000375777:S681C;ENSP00000263280:S674C;ENSP00000440901:S555C	ENSP00000263280:S674C	S	-	2	0	STRN4	51917154	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.310000	0.96267	2.606000	0.88127	0.561000	0.74099	TCC		0.617	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			11	36	0	0	0	1	0	11	36				
ANO9	338440	broad.mit.edu	37	11	433424	433424	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:433424G>C	ENST00000332826.6	-	4	324	c.240C>G	c.(238-240)atC>atG	p.I80M		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	80					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TGTCAGCACGGATCCCAAAGA	0.642																																						ENST00000332826.6																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(238-240)atC>atG		anoctamin 9							133.0	132.0	132.0					11																	433424		2203	4299	6502	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:433424G>C	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.240C>G	11.37:g.433424G>C	ENSP00000332788:p.Ile80Met						p.I80M	NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN			4	324	-			80					B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.240C>G	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	g	5.932	0.356019	0.11239	.	.	ENSG00000185101	ENST00000332826	T	0.68903	-0.36	3.42	1.52	0.23074	.	1.330770	0.05550	N	0.567236	T	0.50990	0.1648	L	0.29908	0.895	0.25725	N	0.985331	P	0.37441	0.595	B	0.31016	0.123	T	0.47787	-0.9090	10	0.72032	D	0.01	.	5.8277	0.18562	0.2492:0.0:0.7508:0.0	.	80	A1A5B4	ANO9_HUMAN	M	80	ENSP00000332788:I80M	ENSP00000332788:I80M	I	-	3	3	ANO9	423424	0.007000	0.16637	0.972000	0.41901	0.110000	0.19582	0.186000	0.16978	0.463000	0.27118	0.466000	0.42574	ATC		0.642	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		23	53	0	0	0	1	0	23	53				
LRRTM4	80059	broad.mit.edu	37	2	76975852	76975852	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:76975852G>A	ENST00000409093.1	-	4	2078	c.1742C>T	c.(1741-1743)cCg>cTg	p.P581L	LRRTM4_ENST00000409884.1_Missense_Mutation_p.P581L|LRRTM4_ENST00000409911.1_Missense_Mutation_p.P582L			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	581					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTAGATGGCCGGTGCTGCCGA	0.592																																						ENST00000409911.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(1744-1746)cCg>cTg		leucine rich repeat transmembrane neuronal 4							150.0	137.0	141.0					2																	76975852		1568	3582	5150	SO:0001583	missense	80059					integral to membrane		g.chr2:76975852G>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1742C>T	2.37:g.76975852G>A	ENSP00000386357:p.Pro581Leu					LRRTM4_ENST00000409093.1_Missense_Mutation_p.P581L|LRRTM4_ENST00000409884.1_Missense_Mutation_p.P581L	p.P582L	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1968	-			581					Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.1745C>T	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.706920	0.30232	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093	T;T;T	0.64991	-0.13;-0.1;-0.1	5.69	5.69	0.88448	.	.	.	.	.	T	0.68238	0.2979	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.68307	-0.5443	9	0.42905	T	0.14	.	17.3094	0.87205	0.0:0.0:1.0:0.0	.	581	Q86VH4	LRRT4_HUMAN	L	582;581;581	ENSP00000387228:P582L;ENSP00000387297:P581L;ENSP00000386357:P581L	ENSP00000386357:P581L	P	-	2	0	LRRTM4	76829360	1.000000	0.71417	0.309000	0.25155	0.014000	0.08584	6.585000	0.74062	2.682000	0.91365	0.650000	0.86243	CCG		0.592	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		31	70	0	0	0	1	0	31	70				
ZPBP2	124626	broad.mit.edu	37	17	38027760	38027760	+	Silent	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:38027760G>C	ENST00000348931.4	+	4	479	c.288G>C	c.(286-288)gtG>gtC	p.V96V	ZPBP2_ENST00000584588.1_Silent_p.V96V|ZPBP2_ENST00000377940.3_Silent_p.V74V	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	96					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGCTGATGGTGAAAGATTTTT	0.284																																						ENST00000377940.3																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(220-222)gtG>gtC		zona pellucida binding protein 2							99.0	104.0	102.0					17																	38027760		2203	4299	6502	SO:0001819	synonymous_variant	124626				binding of sperm to zona pellucida	extracellular region		g.chr17:38027760G>C	BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.288G>C	17.37:g.38027760G>C						ZPBP2_ENST00000348931.4_Silent_p.V96V|ZPBP2_ENST00000584588.1_Silent_p.V96V	p.V74V	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)		3	361	+	Colorectal(19;0.000442)		96					A8K8L8|Q6X783|Q86XL5	Silent	SNP	ENST00000348931.4	37	c.222G>C	CCDS11352.1																																																																																				0.284	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2	NM_198844		9	26	0	0	0	1	0	9	26				
MYNN	55892	broad.mit.edu	37	3	169496746	169496746	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:169496746C>G	ENST00000349841.5	+	3	1120	c.457C>G	c.(457-459)Cga>Gga	p.R153G	MYNN_ENST00000544106.1_Missense_Mutation_p.R153G|MYNN_ENST00000392733.1_Missense_Mutation_p.R153G|MYNN_ENST00000356716.4_Missense_Mutation_p.R153G|RP11-362K14.5_ENST00000602342.1_RNA	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TTATAATAATCGAGAGAAATC	0.343																																						ENST00000349841.5																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(457-459)Cga>Gga		myoneurin							43.0	47.0	45.0					3																	169496746		2201	4300	6501	SO:0001583	missense	55892					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:169496746C>G	AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.457C>G	3.37:g.169496746C>G	ENSP00000326240:p.Arg153Gly					MYNN_ENST00000392733.1_Missense_Mutation_p.R153G|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000544106.1_Missense_Mutation_p.R153G|MYNN_ENST00000356716.4_Missense_Mutation_p.R153G	p.R153G	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		3	1120	+	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		153					B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	ENST00000349841.5	37	c.457C>G	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974831	0.34848	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	T;T;T;T	0.09630	3.14;3.14;2.96;2.96	5.35	4.44	0.53790	.	0.083770	0.48767	D	0.000166	T	0.09949	0.0244	N	0.24115	0.695	0.34172	D	0.669904	P;B	0.46064	0.872;0.18	P;B	0.46479	0.518;0.043	T	0.07158	-1.0787	10	0.59425	D	0.04	.	8.9072	0.35530	0.1491:0.7762:0.0:0.0747	.	153;153	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	G	153	ENSP00000349150:R153G;ENSP00000326240:R153G;ENSP00000376492:R153G;ENSP00000440637:R153G	ENSP00000326240:R153G	R	+	1	2	MYNN	170979440	0.976000	0.34144	1.000000	0.80357	0.878000	0.50629	1.543000	0.36147	2.510000	0.84645	0.650000	0.86243	CGA		0.343	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657		7	16	0	0	0	1	0	7	16				
VCAN	1462	broad.mit.edu	37	5	82816280	82816280	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:82816280G>C	ENST00000265077.3	+	7	2720	c.2155G>C	c.(2155-2157)Gaa>Caa	p.E719Q	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E671Q|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.E719Q	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	719	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AACAGAAGAAGAAGTCTTCTC	0.363																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(2155-2157)Gaa>Caa		versican							69.0	71.0	70.0					5																	82816280		2202	4300	6502	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82816280G>C	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2155G>C	5.37:g.82816280G>C	ENSP00000265077:p.Glu719Gln					VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E671Q|VCAN_ENST00000342785.4_Missense_Mutation_p.E719Q|VCAN_ENST00000343200.5_Intron	p.E719Q	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	2720	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	719			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.2155G>C	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715244	0.48622	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.21031	2.03;2.03;2.03	4.36	4.36	0.52297	.	0.402421	0.21187	N	0.078720	T	0.43456	0.1248	M	0.67953	2.075	0.33320	D	0.567162	D;D	0.89917	1.0;0.996	D;P	0.85130	0.997;0.794	T	0.54063	-0.8349	10	0.38643	T	0.18	.	14.2253	0.65855	0.0:0.0:1.0:0.0	.	719;719	P13611-3;P13611	.;CSPG2_HUMAN	Q	719;719;671	ENSP00000265077:E719Q;ENSP00000342768:E719Q;ENSP00000425959:E671Q	ENSP00000265077:E719Q	E	+	1	0	VCAN	82852036	1.000000	0.71417	0.996000	0.52242	0.433000	0.31745	3.683000	0.54663	2.262000	0.75019	0.655000	0.94253	GAA		0.363	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		8	14	0	0	0	1	0	8	14				
DSPP	1834	broad.mit.edu	37	4	88534203	88534203	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:88534203G>C	ENST00000282478.7	+	3	898	c.865G>C	c.(865-867)Gat>Cat	p.D289H	DSPP_ENST00000399271.1_Missense_Mutation_p.D289H|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	289					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.D289Y(2)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TGGGAAAGAAGATGATCATGA	0.428																																						ENST00000399271.1																			2	Substitution - Missense(2)	p.D289Y(2)	lung(2)	breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(865-867)Gat>Cat		dentin sialophosphoprotein							112.0	119.0	117.0					4																	88534203		1982	4140	6122	SO:0001583	missense	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88534203G>C	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.865G>C	4.37:g.88534203G>C	ENSP00000282478:p.Asp289His					RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.D289H	p.D289H	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	4	985	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	289					A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	c.865G>C	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	G	9.294	1.051265	0.19827	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88741	-2.42;-2.42	4.59	2.73	0.32206	.	.	.	.	.	D	0.87277	0.6137	L	0.38175	1.15	0.09310	N	1	D	0.64830	0.994	P	0.56865	0.808	T	0.77073	-0.2723	9	0.72032	D	0.01	-0.009	3.6235	0.08104	0.2121:0.0:0.5904:0.1975	.	289	Q9NZW4	DSPP_HUMAN	H	289	ENSP00000382213:D289H;ENSP00000282478:D289H	ENSP00000282478:D289H	D	+	1	0	DSPP	88753227	0.141000	0.22595	0.002000	0.10522	0.018000	0.09664	2.388000	0.44398	1.131000	0.42111	0.557000	0.71058	GAT		0.428	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		14	23	0	0	0	1	0	14	23				
XIRP2	129446	broad.mit.edu	37	2	168107253	168107253	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:168107253C>T	ENST00000409195.1	+	9	9440	c.9351C>T	c.(9349-9351)cgC>cgT	p.R3117R	XIRP2_ENST00000295237.9_Silent_p.R3117R|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.R2895R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2942					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAAAAACACGCCCACCGTCAC	0.428																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(9349-9351)cgC>cgT		xin actin-binding repeat containing 2							88.0	84.0	85.0					2																	168107253		1879	4111	5990	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107253C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9351C>T	2.37:g.168107253C>T						XIRP2_ENST00000409273.1_Silent_p.R2895R|XIRP2_ENST00000295237.9_Silent_p.R3117R|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	p.R3117R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	9440	+			2942					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.9351C>T	CCDS42769.1																																																																																				0.428	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		15	45	0	0	0	1	0	15	45				
SMAD3	4088	broad.mit.edu	37	15	67358682	67358682	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:67358682T>A	ENST00000327367.4	+	1	500	c.190T>A	c.(190-192)Tgc>Agc	p.C64S		NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	64	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CAACACCAAGTGCATCACCAT	0.682																																						ENST00000327367.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(190-192)Tgc>Agc		SMAD family member 3							76.0	72.0	74.0					15																	67358682		2198	4299	6497	SO:0001583	missense	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67358682T>A	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.190T>A	15.37:g.67358682T>A	ENSP00000332973:p.Cys64Ser						p.C64S	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	1	500	+			64			MH1.		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	ENST00000327367.4	37	c.190T>A	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.784699	0.90282	.	.	ENSG00000166949	ENST00000327367;ENST00000535241	D	0.89343	-2.5	4.21	4.21	0.49690	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.95417	0.8512	H	0.97491	4.015	0.80722	D	1	P	0.48503	0.911	P	0.56216	0.794	D	0.96629	0.9465	10	0.87932	D	0	.	12.8956	0.58098	0.0:0.0:0.0:1.0	.	64	P84022	SMAD3_HUMAN	S	64	ENSP00000332973:C64S	ENSP00000332973:C64S	C	+	1	0	SMAD3	65145736	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.541000	0.82084	1.876000	0.54355	0.459000	0.35465	TGC		0.682	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902		8	10	0	0	0	1	0	8	10				
AJUBA	84962	broad.mit.edu	37	14	23451169	23451169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:23451169G>A	ENST00000262713.2	-	1	682	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.4_ENST00000557615.1_RNA|AJUBA_ENST00000361265.4_Nonsense_Mutation_p.Q103*|RP11-298I3.4_ENST00000555294.1_RNA|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	103	PreLIM.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										GGCAACGACTGAGGTAGAGGC	0.706																																						ENST00000262713.2																			0											c.(307-309)Cag>Tag		ajuba LIM protein							5.0	7.0	7.0					14																	23451169		2112	4200	6312	SO:0001587	stop_gained	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23451169G>A	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.307C>T	14.37:g.23451169G>A	ENSP00000262713:p.Gln103*					AJUBA_ENST00000361265.4_Nonsense_Mutation_p.Q103*|RP11-298I3.5_ENST00000555074.1_Intron	p.Q103*	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			1	682	-			103			PreLIM.		A8MX18|D3DS37	Nonsense_Mutation	SNP	ENST00000262713.2	37	c.307C>T	CCDS9581.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247978	0.95305	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	.	.	.	4.34	4.34	0.51931	.	2.500410	0.01505	N	0.017698	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	14.3598	0.66764	0.0:0.0:1.0:0.0	.	.	.	.	X	103	.	ENSP00000262713:Q103X	Q	-	1	0	JUB	22521009	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.998000	0.40796	2.253000	0.74438	0.561000	0.74099	CAG		0.706	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			4	14	0	0	0	1	0	4	14				
PHLDB1	23187	broad.mit.edu	37	11	118498655	118498655	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:118498655C>T	ENST00000361417.2	+	7	1527	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	PHLDB1_ENST00000356063.5_Silent_p.L372L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	372										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTGGTGCTCTCAGTCAACCCA	0.637																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(1114-1116)ctC>ctT		pleckstrin homology-like domain, family B, member 1							69.0	65.0	66.0					11																	118498655		2200	4295	6495	SO:0001819	synonymous_variant	23187							g.chr11:118498655C>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1116C>T	11.37:g.118498655C>T						PHLDB1_ENST00000356063.5_Silent_p.L372L	p.L372L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	1527	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	372					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	c.1116C>T	CCDS8401.1																																																																																				0.637	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		20	50	0	0	0	1	0	20	50				
IGLV7-43	28776	broad.mit.edu	37	22	22749559	22749559	+	RNA	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr22:22749559C>T	ENST00000390298.2	+	0	117									immunoglobulin lambda variable 7-43																		CAGGAGCCCTCACTGACTGTG	0.507																																						ENST00000390298.2																			0																				64.0	62.0	63.0					22																	22749559		1934	4129	6063			28776							g.chr22:22749559C>T	X14614		22q11.2	2012-02-08			ENSG00000211652	ENSG00000211652		"""Immunoglobulins / IGL locus"""	5929	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151053		22.37:g.22749559C>T														0	117	+									RNA	SNP	ENST00000390298.2	37																																																																																						0.507	IGLV7-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321113.1	NG_000002		6	29	0	0	0	1	0	6	29				
EPHX4	253152	broad.mit.edu	37	1	92515905	92515905	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:92515905G>A	ENST00000370383.4	+	5	734	c.636G>A	c.(634-636)ttG>ttA	p.L212L		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	212						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						CTCAGCTGTTGAAATCCAGTT	0.318																																					GBM(140;473 1857 5172 22066 49719)	ENST00000370383.4																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.(634-636)ttG>ttA		epoxide hydrolase 4							95.0	97.0	96.0					1																	92515905		2203	4295	6498	SO:0001819	synonymous_variant	253152					integral to membrane	hydrolase activity	g.chr1:92515905G>A	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.636G>A	1.37:g.92515905G>A							p.L212L	NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN			5	734	+			212					Q8NCC6	Silent	SNP	ENST00000370383.4	37	c.636G>A	CCDS736.1																																																																																				0.318	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		4	25	0	0	0	1	0	4	25				
PTBP2	58155	broad.mit.edu	37	1	97278423	97278423	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:97278423G>A	ENST00000426398.2	+	12	1370	c.1327G>A	c.(1327-1329)Gga>Aga	p.G443R	PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_Missense_Mutation_p.G448R|PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000394184.3_Missense_Mutation_p.G459R|PTBP2_ENST00000609116.1_Missense_Mutation_p.G443R|PTBP2_ENST00000370198.1_Missense_Mutation_p.G448R	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	443					mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TAAGAAACCTGGATCCAAAAA	0.378																																						ENST00000236228.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26						c.(1327-1329)Gga>Aga		polypyrimidine tract binding protein 2							66.0	69.0	68.0					1																	97278423		2203	4300	6503	SO:0001583	missense	58155						nucleotide binding	g.chr1:97278423G>A	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.1327G>A	1.37:g.97278423G>A	ENSP00000412788:p.Gly443Arg					PTBP2_ENST00000370197.1_Missense_Mutation_p.G448R|PTBP2_ENST00000426398.2_Missense_Mutation_p.G443R|PTBP2_ENST00000370198.1_Missense_Mutation_p.G448R|PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000394184.3_Missense_Mutation_p.G459R	p.G443R	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	12	1409	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)	443					Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Missense_Mutation	SNP	ENST00000426398.2	37	c.1327G>A	CCDS754.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094786	0.94197	.	.	ENSG00000117569	ENST00000236228;ENST00000543738;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184	T;T;T;T;T	0.52754	0.68;0.67;0.67;0.69;0.65	5.16	5.16	0.70880	.	0.046592	0.85682	D	0.000000	T	0.73745	0.3626	M	0.92268	3.29	0.80722	D	1	D;D;D;D;D;P;D	0.89917	0.998;1.0;0.998;1.0;0.96;0.878;0.977	D;D;D;D;P;D;P	0.91635	0.989;0.999;0.997;0.999;0.907;0.934;0.906	T	0.80899	-0.1176	10	0.87932	D	0	-2.9937	19.0112	0.92874	0.0:0.0:1.0:0.0	.	451;459;115;448;443;443;448	B4DSU5;B4DSS8;B4DSI2;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3	.;.;.;.;PTBP2_HUMAN;.;.	R	443;115;448;448;443;459	ENSP00000236228:G443R;ENSP00000359217:G448R;ENSP00000359216:G448R;ENSP00000412788:G443R;ENSP00000377738:G459R	ENSP00000236228:G443R	G	+	1	0	PTBP2	97051011	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.555000	0.86185	0.557000	0.71058	GGA		0.378	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			7	16	0	0	0	1	0	7	16				
RIN3	79890	broad.mit.edu	37	14	93151411	93151411	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:93151411G>A	ENST00000216487.7	+	9	2706	c.2547G>A	c.(2545-2547)ctG>ctA	p.L849L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	849					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCCGGCAGCTGAGTGTGGAGG	0.637																																						ENST00000216487.7																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(2545-2547)ctG>ctA		Ras and Rab interactor 3							96.0	83.0	87.0					14																	93151411		2203	4300	6503	SO:0001819	synonymous_variant	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93151411G>A	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.2547G>A	14.37:g.93151411G>A						RIN3_ENST00000418924.2_3'UTR	p.L849L	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN			9	2706	+		all_cancers(154;0.0701)	849					Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	ENST00000216487.7	37	c.2547G>A	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	G	9.962	1.222983	0.22457	.	.	ENSG00000100599	ENST00000556418	.	.	.	5.08	4.13	0.48395	.	.	.	.	.	T	0.61098	0.2320	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57929	-0.7726	4	.	.	.	-19.9402	10.6045	0.45386	0.0754:0.1343:0.7903:0.0	.	.	.	.	K	366	.	.	E	+	1	0	RIN3	92221164	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	0.662000	0.25038	2.536000	0.85505	0.563000	0.77884	GAG		0.637	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			19	61	0	0	0	1	0	19	61				
B4GALNT1	2583	broad.mit.edu	37	12	58021630	58021630	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:58021630C>T	ENST00000341156.4	-	10	1739	c.1155G>A	c.(1153-1155)gcG>gcA	p.A385A	B4GALNT1_ENST00000418555.2_Silent_p.A330A	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	385					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)	p.A385A(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TCTCGCGCACCGCGCCCCCCA	0.711																																						ENST00000341156.4																			1	Substitution - coding silent(1)	p.A385A(1)	urinary_tract(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(1153-1155)gcG>gcA		beta-1,4-N-acetyl-galactosaminyl transferase 1																																				SO:0001819	synonymous_variant	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58021630C>T	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.1155G>A	12.37:g.58021630C>T						B4GALNT1_ENST00000418555.2_Silent_p.A330A	p.A385A	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		10	1739	-	Melanoma(17;0.122)		385					B4DE26|Q8N636	Silent	SNP	ENST00000341156.4	37	c.1155G>A	CCDS8950.1	.	.	.	.	.	.	.	.	.	.	.	9.669	1.146286	0.21288	.	.	ENSG00000135454	ENST00000547741	.	.	.	4.43	-1.01	0.10169	.	.	.	.	.	T	0.38904	0.1058	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25916	-1.0118	4	.	.	.	-12.5352	0.2825	0.00247	0.2613:0.2413:0.256:0.2415	.	.	.	.	Q	68	.	.	R	-	2	0	B4GALNT1	56307897	0.000000	0.05858	0.990000	0.47175	0.829000	0.46940	-4.092000	0.00297	-0.409000	0.07553	-0.362000	0.07510	CGG		0.711	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		3	8	0	0	0	1	0	3	8				
C11orf1	64776	broad.mit.edu	37	11	111754583	111754583	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:111754583G>A	ENST00000260276.3	+	4	769	c.432G>A	c.(430-432)atG>atA	p.M144I	C11orf1_ENST00000530214.1_Silent_p.*122*|C11orf1_ENST00000529270.1_Missense_Mutation_p.M184I|C11orf1_ENST00000528125.1_Missense_Mutation_p.M98I	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	144						nucleus (GO:0005634)				kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		CAACTTACATGAATAGCTATT	0.398																																						ENST00000260276.3																			0				kidney(2)|lung(3)	5						c.(430-432)atG>atA		chromosome 11 open reading frame 1							108.0	102.0	104.0					11																	111754583		2201	4297	6498	SO:0001583	missense	64776					nucleus		g.chr11:111754583G>A	AJ250229	CCDS8350.1	11q23.1	2012-05-30			ENSG00000137720	ENSG00000137720			1163	protein-coding gene	gene with protein product						10873569	Standard	NM_022761		Approved	FLJ23499	uc001pmd.3	Q9H5F2	OTTHUMG00000166884	ENST00000260276.3:c.432G>A	11.37:g.111754583G>A	ENSP00000260276:p.Met144Ile					C11orf1_ENST00000530214.1_Silent_p.*122*|C11orf1_ENST00000529270.1_Missense_Mutation_p.M184I|C11orf1_ENST00000528125.1_Missense_Mutation_p.M98I	p.M144I	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)	4	769	+		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)	144					Q6I9X7|Q9NQC6	Missense_Mutation	SNP	ENST00000260276.3	37	c.432G>A	CCDS8350.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672477	0.88348	.	.	ENSG00000137720	ENST00000528125;ENST00000260276;ENST00000529270	T;T;T	0.25579	1.79;1.79;1.79	5.37	5.37	0.77165	.	0.399802	0.25833	N	0.028005	T	0.24470	0.0593	L	0.57536	1.79	0.09310	N	0.999998	P;P	0.40144	0.669;0.704	B;B	0.39217	0.265;0.294	T	0.19063	-1.0317	10	0.13470	T	0.59	-20.9586	11.7249	0.51704	0.0825:0.0:0.9175:0.0	.	184;144	E9PMC1;Q9H5F2	.;CK001_HUMAN	I	98;144;184	ENSP00000433224:M98I;ENSP00000260276:M144I;ENSP00000431180:M184I	ENSP00000260276:M144I	M	+	3	0	C11orf1	111259793	0.587000	0.26791	0.223000	0.23860	0.938000	0.57974	2.857000	0.48349	2.790000	0.95986	0.650000	0.86243	ATG		0.398	C11orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391650.1	NM_022761		10	30	0	0	0	1	0	10	30				
PHF3	23469	broad.mit.edu	37	6	64415949	64415949	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:64415949C>G	ENST00000262043.3	+	12	3738	c.3398C>G	c.(3397-3399)tCt>tGt	p.S1133C	PHF3_ENST00000393387.1_Missense_Mutation_p.S1133C			Q92576	PHF3_HUMAN	PHD finger protein 3	1133					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GATGATCTTTCTCCAAAAAAA	0.353																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(3397-3399)tCt>tGt		PHD finger protein 3							106.0	100.0	102.0					6																	64415949		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64415949C>G	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3398C>G	6.37:g.64415949C>G	ENSP00000262043:p.Ser1133Cys					PHF3_ENST00000393387.1_Missense_Mutation_p.S1133C	p.S1133C			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		12	3738	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1133					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.3398C>G	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686310	0.68157	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.49720	2.01;0.77;2.04;2.04	5.79	5.79	0.91817	.	0.000000	0.35838	N	0.002943	T	0.61022	0.2314	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.62779	-0.6782	10	0.87932	D	0	-17.937	20.0411	0.97590	0.0:1.0:0.0:0.0	.	1133	Q92576	PHF3_HUMAN	C	947;402;1133;1133	ENSP00000424694:S947C;ENSP00000425338:S402C;ENSP00000262043:S1133C;ENSP00000377048:S1133C	ENSP00000262043:S1133C	S	+	2	0	PHF3	64473908	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.979000	0.56888	2.739000	0.93911	0.655000	0.94253	TCT		0.353	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			9	10	0	0	0	1	0	9	10				
FANCD2OS	115795	broad.mit.edu	37	3	10146360	10146360	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:10146360G>C	ENST00000450660.2	-	2	315	c.99C>G	c.(97-99)ttC>ttG	p.F33L	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.F33L	NM_001164839.1	NP_001158311.1	Q96PS1	FACOS_HUMAN	FANCD2 opposite strand	33																	GGGAGGCCTTGAATGGGTGCT	0.562																																						ENST00000450660.2																			0											c.(97-99)ttC>ttG		FANCD2 opposite strand							211.0	214.0	213.0					3																	10146360		2203	4300	6503	SO:0001583	missense	115795							g.chr3:10146360G>C	AF230334	CCDS2596.1	3p25.3	2012-11-12	2012-11-12	2012-11-12	ENSG00000163705	ENSG00000163705			28623	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 24"""	C3orf24		12477932	Standard	NM_001164839		Approved	MGC40179	uc003buz.3	Q96PS1	OTTHUMG00000128669	ENST00000450660.2:c.99C>G	3.37:g.10146360G>C	ENSP00000429608:p.Phe33Leu					FANCD2OS_ENST00000524279.1_Missense_Mutation_p.F33L	p.F33L	NM_001164839.1	NP_001158311.1					2	315	-									Missense_Mutation	SNP	ENST00000450660.2	37	c.99C>G	CCDS2596.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965397	0.53507	.	.	ENSG00000163705	ENST00000524279;ENST00000453223;ENST00000450660	.	.	.	5.62	-1.32	0.09201	.	0.074405	0.56097	D	0.000028	T	0.24044	0.0582	L	0.27053	0.805	0.37536	D	0.9181	P	0.39737	0.685	B	0.27500	0.08	T	0.07947	-1.0746	9	0.33940	T	0.23	.	9.6188	0.39708	0.6141:0.0:0.3859:0.0	.	33	Q96PS1	CC024_HUMAN	L	33;31;33	.	ENSP00000429608:F33L	F	-	3	2	C3orf24	10121360	0.486000	0.25980	0.988000	0.46212	0.924000	0.55760	-0.592000	0.05747	-0.380000	0.07894	-0.458000	0.05436	TTC		0.562	FANCD2OS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339891.2	NM_173472		18	59	0	0	0	1	0	18	59				
ZAN	7455	broad.mit.edu	37	7	100350536	100350536	+	RNA	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:100350536C>T	ENST00000348028.3	+	0	2973				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGACTACCATCTCCACAGAAA	0.507																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							285.0	337.0	321.0					7																	100350536		1854	4092	5946			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350536C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350536C>T						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2956	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.507	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		25	74	0	0	0	1	0	25	74				
SDCCAG3	10807	broad.mit.edu	37	9	139301870	139301870	+	Silent	SNP	G	G	A	rs371136291		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:139301870G>A	ENST00000357365.3	-	5	675	c.546C>T	c.(544-546)acC>acT	p.T182T	SDCCAG3_ENST00000371725.3_Silent_p.T109T|SDCCAG3_ENST00000298537.7_Silent_p.T159T|SDCCAG3_ENST00000461693.1_5'Flank	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	182						cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		CACTCCATCCGGTGTCCTCAT	0.622																																						ENST00000298537.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16						c.(475-477)acC>acT		serologically defined colon cancer antigen 3							20.0	25.0	24.0					9																	139301870		2037	4195	6232	SO:0001819	synonymous_variant	10807					cytoplasm		g.chr9:139301870G>A	AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.546C>T	9.37:g.139301870G>A						SDCCAG3_ENST00000371725.3_Silent_p.T109T|SDCCAG3_ENST00000357365.3_Silent_p.T182T	p.T159T	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)	4	688	-		Myeloproliferative disorder(178;0.0511)	182					A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Silent	SNP	ENST00000357365.3	37	c.477C>T	CCDS43904.1																																																																																				0.622	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055060.2	NM_006643		7	20	0	0	0	1	0	7	20				
MICAL2	9645	broad.mit.edu	37	11	12262600	12262600	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:12262600C>T	ENST00000256194.4	+	18	2516	c.2228C>T	c.(2227-2229)tCa>tTa	p.S743L	MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.S743L	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	743					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CGCCGTGTCTCAGGGATAGGT	0.582																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(2227-2229)tCa>tTa		microtubule associated monooxygenase, calponin and LIM domain containing 2							117.0	118.0	118.0					11																	12262600		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12262600C>T	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.2228C>T	11.37:g.12262600C>T	ENSP00000256194:p.Ser743Leu					MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.S743L|MICAL2_ENST00000527546.1_Intron	p.S743L	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	18	2516	+			743					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.2228C>T	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397556	0.42512	.	.	ENSG00000133816	ENST00000256194;ENST00000342902	T;T	0.61627	0.09;0.09	5.41	5.41	0.78517	.	0.415259	0.20795	N	0.085542	T	0.48822	0.1521	L	0.47716	1.5	0.80722	D	1	P;B	0.41848	0.763;0.003	B;B	0.36504	0.226;0.004	T	0.45659	-0.9246	10	0.31617	T	0.26	.	13.6431	0.62265	0.1554:0.8446:0.0:0.0	.	743;743	G3XAC8;O94851	.;MICA2_HUMAN	L	743	ENSP00000256194:S743L;ENSP00000344894:S743L	ENSP00000256194:S743L	S	+	2	0	MICAL2	12219176	0.975000	0.34042	0.981000	0.43875	0.990000	0.78478	3.321000	0.51999	2.816000	0.96949	0.563000	0.77884	TCA		0.582	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		19	69	0	0	0	1	0	19	69				
CHD8	57680	broad.mit.edu	37	14	21867787	21867787	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:21867787G>A	ENST00000557364.1	-	26	5158	c.4895C>T	c.(4894-4896)tCg>tTg	p.S1632L	CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.S1353L|CHD8_ENST00000399982.2_Missense_Mutation_p.S1632L|SNORD8_ENST00000363915.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1632					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.S1632L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AATGAGCAGCGACTTGTCAGC	0.438																																						ENST00000399982.2																			1	Substitution - Missense(1)	p.S1632L(1)	large_intestine(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(4894-4896)tCg>tTg		chromodomain helicase DNA binding protein 8							116.0	113.0	114.0					14																	21867787		1980	4145	6125	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21867787G>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4895C>T	14.37:g.21867787G>A	ENSP00000451601:p.Ser1632Leu					CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000557364.1_Missense_Mutation_p.S1632L|CHD8_ENST00000430710.3_Missense_Mutation_p.S1353L	p.S1632L	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	25	4959	-	all_cancers(95;0.00121)		1632					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.4895C>T	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308736	0.81247	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.88277	-2.36;-2.36;-2.36	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.94483	0.8224	M	0.83953	2.67	0.53005	D	0.999966	D	0.69078	0.997	D	0.66196	0.942	D	0.94191	0.7441	10	0.52906	T	0.07	-3.5679	18.199	0.89832	0.0:0.0:1.0:0.0	.	1353	Q9HCK8-2	.	L	1353;1632;1352;1632	ENSP00000406288:S1353L;ENSP00000382863:S1632L;ENSP00000451601:S1632L	ENSP00000262707:S1352L	S	-	2	0	CHD8	20937627	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.340000	0.72973	2.828000	0.97474	0.655000	0.94253	TCG		0.438	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		12	37	0	0	0	1	0	12	37				
NIPAL3	57185	broad.mit.edu	37	1	24790551	24790551	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:24790551C>T	ENST00000374399.4	+	11	1330	c.962C>T	c.(961-963)aCg>aTg	p.T321M	NIPAL3_ENST00000339255.2_Missense_Mutation_p.T321M|NIPAL3_ENST00000003912.3_Missense_Mutation_p.T239M	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	321						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						TTCTTAATCACGCGTAACAGG	0.488																																						ENST00000003912.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						c.(715-717)aCg>aTg		NIPA-like domain containing 3							130.0	110.0	117.0					1																	24790551		2203	4300	6503	SO:0001583	missense	57185					integral to membrane		g.chr1:24790551C>T	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.962C>T	1.37:g.24790551C>T	ENSP00000363520:p.Thr321Met					NIPAL3_ENST00000339255.2_Missense_Mutation_p.T321M|NIPAL3_ENST00000374399.4_Missense_Mutation_p.T321M	p.T239M			Q6P499	NPAL3_HUMAN			12	1431	+			321					A2A298|Q6MZT9|Q9BVE6	Missense_Mutation	SNP	ENST00000374399.4	37	c.716C>T	CCDS30631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.18|17.18	3.324515|3.324515	0.60634|0.60634	.|.	.|.	ENSG00000001461|ENSG00000001461	ENST00000432012|ENST00000374399;ENST00000003912;ENST00000339255	.|D;D;D	.|0.90620	.|-2.7;-2.7;-2.7	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.042567	.|0.85682	.|D	.|0.000000	D|D	0.96106|0.96106	0.8731|0.8731	M|M	0.87269|0.87269	2.87|2.87	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.81914	.|0.993;0.995	D|D	0.95956|0.95956	0.8958|0.8958	5|10	.|0.66056	.|D	.|0.02	-21.3627|-21.3627	19.3683|19.3683	0.94473|0.94473	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|321;321	.|Q6P499;A6NN97	.|NPAL3_HUMAN;.	C|M	133|321;239;321	.|ENSP00000363520:T321M;ENSP00000003912:T239M;ENSP00000343549:T321M	.|ENSP00000003912:T239M	R|T	+|+	1|2	0|0	NIPAL3|NIPAL3	24663138|24663138	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.198000|0.198000	0.23893|0.23893	5.200000|5.200000	0.65158|0.65158	2.822000|2.822000	0.97130|0.97130	0.563000|0.563000	0.77884|0.77884	CGC|ACG		0.488	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448		4	12	0	0	0	1	0	4	12				
MYO5A	4644	broad.mit.edu	37	15	52606036	52606036	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:52606036G>A	ENST00000399231.3	-	41	5668	c.5425C>T	c.(5425-5427)Cga>Tga	p.R1809*	MYO5A_ENST00000399233.2_Nonsense_Mutation_p.R1806*|MYO5A_ENST00000553916.1_Nonsense_Mutation_p.R1807*|MYO5A_ENST00000356338.6_Nonsense_Mutation_p.R1782*|MYO5A_ENST00000358212.6_Nonsense_Mutation_p.R1834*	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1809	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTCCTGTCTCGTAAACGCATC	0.393																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(5425-5427)Cga>Tga		myosin VA (heavy chain 12, myoxin)							89.0	84.0	86.0					15																	52606036		1848	4096	5944	SO:0001587	stop_gained	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52606036G>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.5425C>T	15.37:g.52606036G>A	ENSP00000382177:p.Arg1809*					MYO5A_ENST00000553916.1_Nonsense_Mutation_p.R1807*|MYO5A_ENST00000356338.6_Nonsense_Mutation_p.R1782*|MYO5A_ENST00000358212.6_Nonsense_Mutation_p.R1834*|MYO5A_ENST00000399233.2_Nonsense_Mutation_p.R1806*	p.R1809*	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	41	5668	-			1809			Dilute.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Nonsense_Mutation	SNP	ENST00000399231.3	37	c.5425C>T	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	43	10.111823	0.99339	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	.	.	.	5.71	3.74	0.42951	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	14.029	0.64604	0.0:0.0:0.4814:0.5186	.	.	.	.	X	1809;1316;1806;1782;1834;1412;1807	.	ENSP00000348693:R1782X	R	-	1	2	MYO5A	50393328	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.931000	0.28871	0.795000	0.33922	0.655000	0.94253	CGA		0.393	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		15	30	0	0	0	1	0	15	30				
RNASE4	6038	broad.mit.edu	37	14	21167607	21167607	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:21167607C>G	ENST00000555835.1	+	2	753	c.77C>G	c.(76-78)tCc>tGc	p.S26C	RP11-903H12.3_ENST00000554286.1_RNA|AL163636.6_ENST00000553909.1_3'UTR|RNASE4_ENST00000555597.1_Missense_Mutation_p.S26C|RNASE4_ENST00000397995.2_Missense_Mutation_p.S26C|RNASE4_ENST00000304704.4_Missense_Mutation_p.S26C	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	26					cellular response to starvation (GO:0009267)|mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		GTCCAGCCCTCCTATGGCCAG	0.557																																					Esophageal Squamous(59;1059 1362 26290 51151)	ENST00000555835.1																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(76-78)tCc>tGc		ribonuclease, RNase A family, 4							96.0	90.0	92.0					14																	21167607		2203	4300	6503	SO:0001583	missense	6038				mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21167607C>G	U36775	CCDS9555.1	14q11	2014-07-16			ENSG00000258818	ENSG00000258818		"""Ribonucleases, RNase A"""	10047	protein-coding gene	gene with protein product		601030				7501448	Standard	NM_002937		Approved		uc001vxy.4	P34096	OTTHUMG00000029575	ENST00000555835.1:c.77C>G	14.37:g.21167607C>G	ENSP00000452245:p.Ser26Cys					RNASE4_ENST00000397995.2_Missense_Mutation_p.S26C|RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000555597.1_Missense_Mutation_p.S26C|RNASE4_ENST00000304704.4_Missense_Mutation_p.S26C|AL163636.6_ENST00000553909.1_RNA	p.S26C	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)	2	753	+	all_cancers(95;0.00304)		26						Missense_Mutation	SNP	ENST00000555835.1	37	c.77C>G	CCDS9555.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776661	0.49786	.	.	ENSG00000258818;ENSG00000258818;ENSG00000258818;ENSG00000181784;ENSG00000181784;ENSG00000181784	ENST00000555835;ENST00000397995;ENST00000555597;ENST00000398001;ENST00000304704;ENST00000397999	D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	5.87	4.97	0.65823	Ribonuclease A, domain (1);	0.349387	0.25025	N	0.033729	T	0.80999	0.4732	M	0.69523	2.12	0.27288	N	0.957923	B	0.32604	0.377	B	0.33196	0.159	T	0.76898	-0.2789	10	0.66056	D	0.02	-18.3067	10.2412	0.43312	0.0:0.912:0.0:0.088	.	26	P34096	RNAS4_HUMAN	C	26	ENSP00000452245:S26C;ENSP00000381081:S26C;ENSP00000451624:S26C;ENSP00000381087:S26C;ENSP00000307096:S26C;ENSP00000381085:S26C	ENSP00000307096:S26C	S	+	2	0	AL163636.2;RNASE4	20237447	0.993000	0.37304	1.000000	0.80357	0.802000	0.45316	2.045000	0.41250	2.941000	0.99782	0.655000	0.94253	TCC		0.557	RNASE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073729.3			76	81	0	0	0	1	0	76	81				
PDE4D	5144	broad.mit.edu	37	5	58652626	58652626	+	Intron	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:58652626G>A	ENST00000340635.6	-	2	631				PDE4D_ENST00000507116.1_Intron|PDE4D_ENST00000405755.2_Missense_Mutation_p.S16F|PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000360047.5_Intron|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000502575.1_Intron	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific						adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GGCTCTTGTAGATGGTCCTGG	0.478																																						ENST00000405755.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(46-48)tCt>tTt		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						56.0	53.0	54.0					5																	58652626		876	1991	2867	SO:0001627	intron_variant	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58652626G>A		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.456-140832C>T	5.37:g.58652626G>A						PDE4D_ENST00000507116.1_Intron|PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000502575.1_Intron|PDE4D_ENST00000340635.6_Intron|PDE4D_ENST00000360047.5_Intron|PDE4D_ENST00000546160.1_Intron	p.S16F	NM_001197219.1	NP_001184148.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	1	175	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	0					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.47C>T	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.514653	0.27123	.	.	ENSG00000113448	ENST00000405755	T	0.66460	-0.21	5.41	5.41	0.78517	.	27.245100	0.00166	N	0.000000	T	0.78972	0.4368	.	.	.	0.80722	D	1	P	0.48016	0.904	P	0.51135	0.66	T	0.65261	-0.6211	9	0.72032	D	0.01	.	17.5577	0.87897	0.0:0.0:1.0:0.0	.	16	Q08499-9	.	F	16	ENSP00000384806:S16F	ENSP00000384806:S16F	S	-	2	0	PDE4D	58688383	1.000000	0.71417	0.801000	0.32222	0.084000	0.17831	6.100000	0.71473	2.826000	0.97356	0.655000	0.94253	TCT		0.478	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			3	12	0	0	0	1	0	3	12				
PAH	5053	broad.mit.edu	37	12	103260425	103260425	+	Missense_Mutation	SNP	A	A	C	rs199475649		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:103260425A>C	ENST00000553106.1	-	5	930	c.458T>G	c.(457-459)gTg>gGg	p.V153G	PAH_ENST00000307000.2_Missense_Mutation_p.V148G|PAH_ENST00000551988.1_Intron	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	153					catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TGCACGGTACACAGGATCTTT	0.468																																						ENST00000553106.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27						c.(457-459)gTg>gGg		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						129.0	114.0	119.0					12																	103260425		2203	4300	6503	SO:0001583	missense	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103260425A>C	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.458T>G	12.37:g.103260425A>C	ENSP00000448059:p.Val153Gly					PAH_ENST00000551988.1_Intron|PAH_ENST00000307000.2_Missense_Mutation_p.V148G	p.V153G	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN			5	930	-			153					Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	c.458T>G	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.527833	0.85706	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99656	-6.31;-6.31	6.08	6.08	0.98989	Aromatic amino acid hydroxylase, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99694	0.9884	H	0.94771	3.58	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.69479	0.964;0.936	D	0.98098	1.0413	10	0.45353	T	0.12	-20.4144	14.3847	0.66938	1.0:0.0:0.0:0.0	.	153;153	B4DPN2;P00439	.;PH4H_HUMAN	G	153;148	ENSP00000448059:V153G;ENSP00000303500:V148G	ENSP00000303500:V148G	V	-	2	0	PAH	101784555	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.268000	0.65536	2.333000	0.79357	0.533000	0.62120	GTG		0.468	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			6	37	0	0	0	1	0	6	37				
F2R	2149	broad.mit.edu	37	5	76028613	76028613	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:76028613C>T	ENST00000319211.4	+	2	828	c.563C>T	c.(562-564)gCc>gTc	p.A188V		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	188					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	AACATGTACGCCTCTATCTTG	0.493																																						ENST00000319211.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16						c.(562-564)gCc>gTc		coagulation factor II (thrombin) receptor	Streptokinase(DB00086)						190.0	188.0	189.0					5																	76028613		2203	4300	6503	SO:0001583	missense	2149				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity	g.chr5:76028613C>T	M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"""GPCR / Class A : Protease activated receptors"""	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.563C>T	5.37:g.76028613C>T	ENSP00000321326:p.Ala188Val						p.A188V	NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN		all cancers(79;4.43e-43)	2	828	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)	188					Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	ENST00000319211.4	37	c.563C>T	CCDS4032.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989875	0.93106	.	.	ENSG00000181104	ENST00000319211	T	0.75704	-0.96	4.89	4.89	0.63831	GPCR, rhodopsin-like superfamily (1);	0.103989	0.64402	D	0.000003	T	0.81847	0.4909	M	0.63169	1.94	0.80722	D	1	D	0.61080	0.989	P	0.62298	0.9	T	0.83144	-0.0107	10	0.72032	D	0.01	-32.3572	12.8734	0.57978	0.0:0.7058:0.2942:0.0	.	188	P25116	PAR1_HUMAN	V	188	ENSP00000321326:A188V	ENSP00000321326:A188V	A	+	2	0	F2R	76064369	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.768000	0.74980	2.684000	0.91462	0.561000	0.74099	GCC		0.493	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2			48	90	0	0	0	1	0	48	90				
DTNA	1837	broad.mit.edu	37	18	32386188	32386188	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr18:32386188G>T	ENST00000399113.3	+	4	368	c.368G>T	c.(367-369)gGc>gTc	p.G123V	DTNA_ENST00000554864.3_Missense_Mutation_p.G123V|DTNA_ENST00000348997.5_Missense_Mutation_p.G123V|DTNA_ENST00000269191.6_Missense_Mutation_p.G123V|DTNA_ENST00000598334.1_Missense_Mutation_p.G123V|DTNA_ENST00000595022.1_Missense_Mutation_p.G123V|DTNA_ENST00000399121.5_Missense_Mutation_p.G123V|DTNA_ENST00000596745.1_Missense_Mutation_p.G123V|DTNA_ENST00000597599.1_Missense_Mutation_p.G123V|DTNA_ENST00000315456.6_Missense_Mutation_p.G123V|DTNA_ENST00000598774.1_Missense_Mutation_p.G123V|DTNA_ENST00000598142.1_Missense_Mutation_p.G123V|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000444659.1_Missense_Mutation_p.G123V|DTNA_ENST00000269190.7_Missense_Mutation_p.G123V|DTNA_ENST00000283365.9_Missense_Mutation_p.G123V			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	123	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AACAGGGAAGGCCATGGTAAA	0.338																																						ENST00000283365.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(367-369)gGc>gTc		dystrobrevin, alpha							145.0	116.0	126.0					18																	32386188		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32386188G>T	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.368G>T	18.37:g.32386188G>T	ENSP00000382064:p.Gly123Val					DTNA_ENST00000444659.1_Missense_Mutation_p.G123V|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000554864.3_Missense_Mutation_p.G123V|DTNA_ENST00000598334.1_Missense_Mutation_p.G123V|DTNA_ENST00000269191.6_Missense_Mutation_p.G123V|DTNA_ENST00000399113.3_Missense_Mutation_p.G123V|DTNA_ENST00000595022.1_Missense_Mutation_p.G123V|DTNA_ENST00000269190.7_Missense_Mutation_p.G123V|DTNA_ENST00000596745.1_Missense_Mutation_p.G123V|DTNA_ENST00000598774.1_Missense_Mutation_p.G123V|DTNA_ENST00000598142.1_Missense_Mutation_p.G123V|DTNA_ENST00000315456.6_Missense_Mutation_p.G123V|DTNA_ENST00000399121.5_Missense_Mutation_p.G123V|DTNA_ENST00000597599.1_Missense_Mutation_p.G123V|DTNA_ENST00000348997.5_Missense_Mutation_p.G123V	p.G123V	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN			6	719	+			123			Interaction with MAGEE1 (By similarity).		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.368G>T	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327499	0.81690	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	T;T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	4.76	4.76	0.60689	EF-hand domain, type 1 (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77651	0.4162	M	0.62723	1.935	0.80722	D	1	P;D;D;P;D;D;P;D;D;D;P;D	0.89917	0.954;1.0;1.0;0.578;0.991;1.0;0.797;0.993;0.996;0.995;0.944;0.995	P;D;D;B;P;D;P;D;D;P;P;P	0.85130	0.741;0.997;0.992;0.405;0.864;0.992;0.716;0.916;0.938;0.905;0.624;0.897	T	0.80355	-0.1417	10	0.72032	D	0.01	-11.7231	18.1394	0.89634	0.0:0.0:1.0:0.0	.	123;123;123;123;123;123;123;134;123;123;123;123	B4DGS6;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.	V	123	ENSP00000283365:G123V;ENSP00000322519:G123V;ENSP00000269190:G123V;ENSP00000336682:G123V;ENSP00000382072:G123V;ENSP00000405819:G123V;ENSP00000269191:G123V;ENSP00000382064:G123V	ENSP00000269190:G123V	G	+	2	0	DTNA	30640186	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	9.813000	0.99286	2.339000	0.79563	0.563000	0.77884	GGC		0.338	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		4	15	1	0	0.150653	1	0.151401	4	15				
TSHB	7252	broad.mit.edu	37	1	115576668	115576668	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:115576668C>A	ENST00000369517.1	+	2	237	c.237C>A	c.(235-237)taC>taA	p.Y79*	TSHB_ENST00000256592.1_Nonsense_Mutation_p.Y79*			P01222	TSHB_HUMAN	thyroid stimulating hormone, beta	79					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|G-protein coupled receptor signaling pathway (GO:0007186)|peptide hormone processing (GO:0016486)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to vitamin A (GO:0033189)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		ACTTCATCTACAGGACTGTAG	0.423																																						ENST00000256592.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(235-237)taC>taA		thyroid stimulating hormone, beta							222.0	212.0	216.0					1																	115576668		2203	4300	6503	SO:0001587	stop_gained	7252				anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity	g.chr1:115576668C>A	BC069298	CCDS880.1	1p13	2013-02-28			ENSG00000134200	ENSG00000134200		"""Endogenous ligands"""	12372	protein-coding gene	gene with protein product		188540				2457586, 3243440	Standard	NM_000549		Approved		uc001efs.2	P01222	OTTHUMG00000011881	ENST00000369517.1:c.237C>A	1.37:g.115576668C>A	ENSP00000358530:p.Tyr79*					TSHB_ENST00000369517.1_Nonsense_Mutation_p.Y79*	p.Y79*	NM_000549.3|NM_001277991.1	NP_000540.2|NP_001264920.1	P01222	TSHB_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	305	+	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	79					B1AKP0|Q16163	Nonsense_Mutation	SNP	ENST00000369517.1	37	c.237C>A	CCDS880.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442806	0.63067	.	.	ENSG00000134200	ENST00000256592;ENST00000369517	.	.	.	5.83	0.873	0.19118	.	0.057360	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1317	10.684	0.45833	0.0:0.6384:0.0:0.3616	.	.	.	.	X	79	.	ENSP00000256592:Y79X	Y	+	3	2	TSHB	115378191	0.985000	0.35326	0.995000	0.50966	0.961000	0.63080	0.131000	0.15870	-0.092000	0.12417	-0.302000	0.09304	TAC		0.423	TSHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032833.2	NM_000549		31	51	1	0	1.55811e-20	1	1.76267e-20	31	51				
SSTR1	6751	broad.mit.edu	37	14	38679099	38679099	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:38679099C>T	ENST00000267377.2	+	3	1122	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	169					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	GGCCCGCTACCGCCGGCCCAC	0.637																																						ENST00000267377.2																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(505-507)Cgc>Tgc		somatostatin receptor 1	Octreotide(DB00104)						68.0	69.0	68.0					14																	38679099		2203	4299	6502	SO:0001583	missense	6751				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38679099C>T		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.505C>T	14.37:g.38679099C>T	ENSP00000267377:p.Arg169Cys						p.R169C	NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	1122	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		169						Missense_Mutation	SNP	ENST00000267377.2	37	c.505C>T	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696940	0.68386	.	.	ENSG00000139874	ENST00000267377	T	0.39406	1.08	4.82	3.92	0.45320	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	T	0.70613	0.3244	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76334	-0.2997	10	0.87932	D	0	.	9.5378	0.39233	0.1612:0.6834:0.1554:0.0	.	169	P30872	SSR1_HUMAN	C	169	ENSP00000267377:R169C	ENSP00000267377:R169C	R	+	1	0	SSTR1	37748850	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.334000	0.43920	1.240000	0.43803	0.561000	0.74099	CGC		0.637	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			18	94	0	0	0	1	0	18	94				
FLNB	2317	broad.mit.edu	37	3	58133998	58133998	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:58133998G>A	ENST00000295956.4	+	35	5959	c.5794G>A	c.(5794-5796)Gag>Aag	p.E1932K	FLNB_ENST00000357272.4_Missense_Mutation_p.E1932K|FLNB_ENST00000358537.3_Missense_Mutation_p.E1908K|FLNB_ENST00000419752.2_Missense_Mutation_p.E1752K|FLNB_ENST00000493452.1_Missense_Mutation_p.E1739K|FLNB_ENST00000429972.2_Missense_Mutation_p.E1921K|FLNB_ENST00000490882.1_Missense_Mutation_p.E1963K|FLNB_ENST00000348383.5_Missense_Mutation_p.E1932K	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1932	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CGACATCAGTGAGACTGACCT	0.587																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(5794-5796)Gag>Aag		filamin B, beta							62.0	52.0	55.0					3																	58133998		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58133998G>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.5794G>A	3.37:g.58133998G>A	ENSP00000295956:p.Glu1932Lys					FLNB_ENST00000348383.5_Missense_Mutation_p.E1932K|FLNB_ENST00000419752.2_Missense_Mutation_p.E1752K|FLNB_ENST00000295956.4_Missense_Mutation_p.E1932K|FLNB_ENST00000493452.1_Missense_Mutation_p.E1739K|FLNB_ENST00000490882.1_Missense_Mutation_p.E1963K|FLNB_ENST00000429972.2_Missense_Mutation_p.E1921K|FLNB_ENST00000358537.3_Missense_Mutation_p.E1908K	p.E1932K			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	35	5959	+			1932			Interaction with the cytoplasmic tail of GP1BA.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.5794G>A	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	37	6.297178	0.97453	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.86694	-2.09;-2.11;-2.11;-2.1;-2.16;-2.16;-1.86;-1.86	6.17	6.17	0.99709	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94663	0.8279	M	0.85197	2.74	0.80722	D	1	D;D;D;D;D;D	0.89917	0.993;1.0;0.992;0.999;0.992;0.992	D;D;D;D;D;D	0.91635	0.973;0.999;0.991;0.995;0.991;0.991	D	0.94171	0.7423	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1908;1963;1739;1752;1921;1932	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	K	1932;1963;1908;1921;1932;1932;1739;1752	ENSP00000295956:E1932K;ENSP00000420213:E1963K;ENSP00000351339:E1908K;ENSP00000415599:E1921K;ENSP00000232447:E1932K;ENSP00000349819:E1932K;ENSP00000418510:E1739K;ENSP00000414532:E1752K	ENSP00000295956:E1932K	E	+	1	0	FLNB	58109038	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAG		0.587	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		9	16	0	0	0	1	0	9	16				
BICD2	23299	broad.mit.edu	37	9	95484948	95484948	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:95484948C>G	ENST00000375512.3	-	3	663	c.596G>C	c.(595-597)aGa>aCa	p.R199T	BICD2_ENST00000356884.6_Missense_Mutation_p.R199T	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	199					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTGGTTCTGTCTGAGCACAGA	0.577																																						ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(595-597)aGa>aCa		bicaudal D homolog 2 (Drosophila)							126.0	108.0	114.0					9																	95484948		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95484948C>G	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.596G>C	9.37:g.95484948C>G	ENSP00000364662:p.Arg199Thr					BICD2_ENST00000375512.3_Missense_Mutation_p.R199T	p.R199T	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN			3	663	-			199					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.596G>C	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123126	0.77436	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.53423	0.62;0.62	4.93	3.79	0.43588	.	0.048690	0.85682	D	0.000000	T	0.43188	0.1236	L	0.52905	1.665	0.45161	D	0.998174	P;P	0.37781	0.554;0.608	B;B	0.43575	0.299;0.424	T	0.35276	-0.9795	10	0.38643	T	0.18	-44.9506	5.0949	0.14727	0.0:0.7456:0.0:0.2544	.	199;199	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	T	199	ENSP00000349351:R199T;ENSP00000364662:R199T	ENSP00000349351:R199T	R	-	2	0	BICD2	94524769	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.115000	0.71566	2.459000	0.83118	0.561000	0.74099	AGA		0.577	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		17	18	0	0	0	1	0	17	18				
MYH1	4619	broad.mit.edu	37	17	10415996	10415996	+	Splice_Site	SNP	A	A	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:10415996A>T	ENST00000226207.5	-	11	1103		c.e11+1		CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult						muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGTATAACTTACATCTGTAGC	0.393																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.e11+1		myosin, heavy chain 1, skeletal muscle, adult							158.0	153.0	154.0					17																	10415996		2203	4300	6503	SO:0001630	splice_region_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10415996A>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1008+1T>A	17.37:g.10415996A>T						CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA		NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			11	1103	-								Q14CA4|Q9Y622	Splice_Site	SNP	ENST00000226207.5	37		CCDS11155.1	.	.	.	.	.	.	.	.	.	.	A	16.16	3.045462	0.55110	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH1	10356721	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	9.301000	0.96167	2.371000	0.80710	0.533000	0.62120	.		0.393	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	Intron	17	72	0	0	0	1	0	17	72				
HPS6	79803	broad.mit.edu	37	10	103827017	103827017	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:103827017G>A	ENST00000299238.5	+	1	1871	c.1786G>A	c.(1786-1788)Ggg>Agg	p.G596R		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	596					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GCCGGGCTGGGGGGCAGGGGG	0.677									Hermansky-Pudlak syndrome																													ENST00000299238.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(1786-1788)Ggg>Agg		Hermansky-Pudlak syndrome 6							14.0	17.0	16.0					10																	103827017		2167	4256	6423	SO:0001583	missense	79803	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103827017G>A	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.1786G>A	10.37:g.103827017G>A	ENSP00000299238:p.Gly596Arg						p.G596R	NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	1871	+		Colorectal(252;0.122)	596					Q5VV69|Q9H685	Missense_Mutation	SNP	ENST00000299238.5	37	c.1786G>A	CCDS7527.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298004	0.23650	.	.	ENSG00000166189	ENST00000299238	D	0.84730	-1.89	5.12	4.21	0.49690	.	0.451107	0.22588	N	0.058139	T	0.80076	0.4557	L	0.57536	1.79	0.25581	N	0.986791	B	0.15473	0.013	B	0.18561	0.022	T	0.70601	-0.4827	10	0.51188	T	0.08	-13.4816	5.626	0.17482	0.3258:0.0:0.6742:0.0	.	596	Q86YV9	HPS6_HUMAN	R	596	ENSP00000299238:G596R	ENSP00000299238:G596R	G	+	1	0	HPS6	103817007	0.999000	0.42202	0.368000	0.25939	0.176000	0.22953	1.697000	0.37784	1.394000	0.46624	0.561000	0.74099	GGG		0.677	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		11	29	0	0	0	1	0	11	29				
QSOX2	169714	broad.mit.edu	37	9	139108558	139108558	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:139108558C>T	ENST00000358701.5	-	9	1134	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	366					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		TGGCGGCCGTCCAGGGAACAG	0.647																																						ENST00000358701.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1096-1098)gGa>gAa		quiescin Q6 sulfhydryl oxidase 2							58.0	55.0	56.0					9																	139108558		2203	4300	6503	SO:0001583	missense	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139108558C>T	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.1097G>A	9.37:g.139108558C>T	ENSP00000351536:p.Gly366Glu						p.G366E	NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	9	1134	-		Myeloproliferative disorder(178;0.0511)	366					A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	ENST00000358701.5	37	c.1097G>A	CCDS35178.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	12.79|12.79	2.044445|2.044445	0.36085|0.36085	.|.	.|.	ENSG00000165661|ENSG00000165661	ENST00000358701;ENST00000389471|ENST00000455222	T|.	0.16196|.	2.36|.	4.32|4.32	3.4|3.4	0.38934|0.38934	.|.	0.117354|.	0.56097|.	D|.	0.000030|.	T|.	0.77565|.	0.4149|.	M|M	0.87682|0.87682	2.9|2.9	0.44247|0.44247	D|D	0.997093|0.997093	D|.	0.71674|.	0.998|.	D|.	0.68192|.	0.956|.	T|.	0.79855|.	-0.1627|.	10|.	0.42905|.	T|.	0.14|.	-22.5161|-22.5161	13.1073|13.1073	0.59253|0.59253	0.0:0.8374:0.1625:0.0|0.0:0.8374:0.1625:0.0	.|.	366|.	Q6ZRP7|.	QSOX2_HUMAN|.	E|X	366;165|133	ENSP00000351536:G366E|.	ENSP00000351536:G366E|.	G|W	-|-	2|3	0|0	QSOX2|QSOX2	138248379|138248379	1.000000|1.000000	0.71417|0.71417	0.440000|0.440000	0.26846|0.26846	0.040000|0.040000	0.13550|0.13550	3.986000|3.986000	0.56937|0.56937	0.778000|0.778000	0.33520|0.33520	0.406000|0.406000	0.27484|0.27484	GGA|TGG		0.647	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		12	53	0	0	0	1	0	12	53				
SEMA4G	57715	broad.mit.edu	37	10	102738058	102738058	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:102738058G>A	ENST00000370250.4	+	5	815	c.442G>A	c.(442-444)Gag>Aag	p.E148K	SEMA4G_ENST00000519756.1_3'UTR|MRPL43_ENST00000318325.2_3'UTR|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Missense_Mutation_p.E148K|SEMA4G_ENST00000210633.3_Missense_Mutation_p.E148K	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	148	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CTAGGATGCTGAGGCCTTCAC	0.562																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(442-444)Gag>Aag		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G							78.0	62.0	68.0					10																	102738058		2203	4300	6503	SO:0001583	missense	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102738058G>A	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.442G>A	10.37:g.102738058G>A	ENSP00000359270:p.Glu148Lys					SEMA4G_ENST00000517724.1_Missense_Mutation_p.E148K|SEMA4G_ENST00000370250.4_Missense_Mutation_p.E148K|MRPL43_ENST00000318325.2_3'UTR|SEMA4G_ENST00000519756.1_3'UTR	p.E148K			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	5	520	+		Colorectal(252;0.234)	148			Sema.		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37	c.442G>A		.	.	.	.	.	.	.	.	.	.	G	14.63	2.592482	0.46214	.	.	ENSG00000095539	ENST00000519649;ENST00000518124;ENST00000457585;ENST00000370250;ENST00000517724;ENST00000210633	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	5.65	4.72	0.59763	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.268040	0.42821	D	0.000648	T	0.31482	0.0798	M	0.61703	1.905	0.38268	D	0.94208	P;B;B	0.45957	0.869;0.257;0.002	P;B;B	0.45167	0.472;0.216;0.005	T	0.21245	-1.0251	10	0.09338	T	0.73	.	10.7177	0.46021	0.0732:0.1334:0.7935:0.0	.	148;148;148	Q9NTN9;A1A5C6;Q9NTN9-2	SEM4G_HUMAN;.;.	K	148	ENSP00000428896:E148K;ENSP00000430103:E148K;ENSP00000359270:E148K;ENSP00000430175:E148K;ENSP00000210633:E148K	ENSP00000210633:E148K	E	+	1	0	SEMA4G	102728048	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.806000	0.55583	1.352000	0.45808	0.478000	0.44815	GAG		0.562	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			6	15	0	0	0	1	0	6	15				
MTUS2	23281	broad.mit.edu	37	13	30075261	30075261	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr13:30075261A>G	ENST00000380808.2	+	8	979	c.763A>G	c.(763-765)Aag>Gag	p.K255E	MTUS2_ENST00000542829.1_Missense_Mutation_p.K165E|MTUS2_ENST00000400542.3_3'UTR|MTUS2_ENST00000431530.3_Missense_Mutation_p.K1286E	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1276						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCTAGAAGAAAAGATCCAGGT	0.463																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(3856-3858)Aag>Gag		microtubule associated tumor suppressor candidate 2							121.0	116.0	117.0					13																	30075261		1894	4105	5999	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:30075261A>G	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:c.763A>G	13.37:g.30075261A>G	ENSP00000370186:p.Lys255Glu					MTUS2_ENST00000542829.1_Missense_Mutation_p.K165E|MTUS2_ENST00000400542.3_3'UTR|MTUS2_ENST00000380808.2_Missense_Mutation_p.K255E	p.K1286E	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			13	3914	+			1276					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000380808.2	37	c.3856A>G	CCDS41874.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.065414	0.76187	.	.	ENSG00000132938	ENST00000431530;ENST00000380808;ENST00000542829;ENST00000417109	T;T;T	0.78481	-1.18;-1.18;-1.18	5.13	5.13	0.70059	.	0.189650	0.53938	D	0.000042	D	0.82435	0.5036	M	0.78049	2.395	0.37727	D	0.925136	P;P	0.50943	0.849;0.94	P;P	0.49708	0.496;0.62	D	0.85820	0.1385	9	.	.	.	.	14.2644	0.66107	1.0:0.0:0.0:0.0	.	255;1276	Q5JR59-3;Q5JR59	.;MTUS2_HUMAN	E	1286;255;165;212	ENSP00000392057:K1286E;ENSP00000370186:K255E;ENSP00000445403:K165E	.	K	+	1	0	MTUS2	28973261	1.000000	0.71417	0.994000	0.49952	0.931000	0.56810	5.200000	0.65158	2.154000	0.67381	0.459000	0.35465	AAG		0.463	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044335.2	XM_166270		5	27	0	0	0	1	0	5	27				
EIF2S2	8894	broad.mit.edu	37	20	32677565	32677565	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr20:32677565G>A	ENST00000374980.2	-	9	1194	c.973C>T	c.(973-975)Cga>Tga	p.R325*		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	325					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						AGCTGTGCTCGCTTGCCCGTG	0.478																																						ENST00000374980.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						c.(973-975)Cga>Tga		eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa							84.0	71.0	76.0					20																	32677565		2203	4300	6503	SO:0001587	stop_gained	8894					cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity	g.chr20:32677565G>A	M29536	CCDS13231.1	20q11.2	2012-04-17	2002-08-29		ENSG00000125977	ENSG00000125977		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	3266	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 67"""	603908	"""eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )"""	EIF2		3044606	Standard	XM_005260605		Approved	EIF2beta, PPP1R67	uc031rsu.1	P20042	OTTHUMG00000032287	ENST00000374980.2:c.973C>T	20.37:g.32677565G>A	ENSP00000364119:p.Arg325*						p.R325*	NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN			9	1194	-			325					Q9BVU0|Q9UJE4	Nonsense_Mutation	SNP	ENST00000374980.2	37	c.973C>T	CCDS13231.1	.	.	.	.	.	.	.	.	.	.	G	37	6.220333	0.97390	.	.	ENSG00000125977	ENST00000374980	.	.	.	6.13	4.08	0.47627	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.43010	D	0.994548	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.1421	13.2216	0.59892	0.0:0.0:0.5112:0.4888	.	.	.	.	X	325	.	ENSP00000364119:R325X	R	-	1	2	EIF2S2	32141226	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.084000	0.50143	1.609000	0.50190	0.650000	0.86243	CGA		0.478	EIF2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078765.2	NM_003908		9	29	0	0	0	1	0	9	29				
NKAPL	222698	broad.mit.edu	37	6	28228044	28228044	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:28228044G>A	ENST00000343684.3	+	1	947	c.895G>A	c.(895-897)Gct>Act	p.A299T	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	299										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GTATGGCCATGCTTTGCTTCC	0.453																																						ENST00000343684.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(895-897)Gct>Act		NFKB activating protein-like							93.0	95.0	94.0					6																	28228044		2203	4300	6503	SO:0001583	missense	222698							g.chr6:28228044G>A	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.895G>A	6.37:g.28228044G>A	ENSP00000345716:p.Ala299Thr						p.A299T	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN			1	947	+			299					Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	c.895G>A	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746048	0.89663	.	.	ENSG00000189134	ENST00000343684	T	0.21734	1.99	4.74	4.74	0.60224	.	0.106712	0.64402	D	0.000005	T	0.47116	0.1428	M	0.90082	3.085	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.56607	-0.7951	10	0.72032	D	0.01	-11.7626	15.6397	0.76989	0.0:0.0:1.0:0.0	.	299	Q5M9Q1	NKAPL_HUMAN	T	299	ENSP00000345716:A299T	ENSP00000345716:A299T	A	+	1	0	NKAPL	28336023	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	9.553000	0.98118	2.635000	0.89317	0.655000	0.94253	GCT		0.453	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			13	44	0	0	0	1	0	13	44				
TBC1D10A	83874	broad.mit.edu	37	22	30695463	30695463	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr22:30695463C>T	ENST00000215790.7	-	3	551	c.387G>A	c.(385-387)gtG>gtA	p.V129V	TBC1D10A_ENST00000490449.1_5'Flank|TBC1D10A_ENST00000403477.3_Silent_p.V136V|RP1-130H16.18_ENST00000447976.1_Silent_p.V3V|TBC1D10A_ENST00000403362.1_Silent_p.V41V	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	129	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GCTGTAACTTCACCTTGCCTC	0.562																																						ENST00000215790.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(385-387)gtG>gtA		TBC1 domain family, member 10A							229.0	159.0	183.0					22																	30695463		2203	4300	6503	SO:0001819	synonymous_variant	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30695463C>T	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.387G>A	22.37:g.30695463C>T						RP1-130H16.18_ENST00000447976.1_Silent_p.V3V|TBC1D10A_ENST00000403362.1_Silent_p.V41V|TBC1D10A_ENST00000403477.3_Silent_p.V136V	p.V129V	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN			3	551	-			129			Rab-GAP TBC.		B3KXT8|O76053|Q20WK7|Q543A2	Silent	SNP	ENST00000215790.7	37	c.387G>A	CCDS13874.1																																																																																				0.562	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		10	40	0	0	0	1	0	10	40				
EPHA5	2044	broad.mit.edu	37	4	66361138	66361138	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:66361138C>G	ENST00000273854.3	-	4	1634	c.1034G>C	c.(1033-1035)aGa>aCa	p.R345T	EPHA5_ENST00000511294.1_Missense_Mutation_p.R345T|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.R345T	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	345	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATCAGACTCTCTCCTGAAATA	0.473										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1033-1035)aGa>aCa		EPH receptor A5							173.0	168.0	170.0					4																	66361138		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66361138C>G	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1034G>C	4.37:g.66361138C>G	ENSP00000273854:p.Arg345Thr	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.R345T|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.R345T	p.R345T	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			4	1634	-			345			Cys-rich.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1034G>C	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.943213	0.34283	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;T	0.71579	1.62;1.62;-0.58	5.84	4.99	0.66335	.	0.098802	0.44097	D	0.000487	T	0.48059	0.1479	N	0.03194	-0.395	0.25586	N	0.986746	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.47886	-0.9082	10	0.66056	D	0.02	.	11.6893	0.51505	0.0:0.8121:0.0:0.1879	.	345;345;345;345	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	T	345	ENSP00000273854:R345T;ENSP00000346899:R345T;ENSP00000427638:R345T	ENSP00000273854:R345T	R	-	2	0	EPHA5	66043733	0.945000	0.32115	1.000000	0.80357	0.991000	0.79684	0.420000	0.21263	1.449000	0.47699	0.460000	0.39030	AGA		0.473	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		20	73	0	0	0	1	0	20	73				
FBXO48	554251	broad.mit.edu	37	2	68691500	68691500	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:68691500C>T	ENST00000377957.3	-	4	716	c.309G>A	c.(307-309)gtG>gtA	p.V103V		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	103										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TCAGCAGTATCACCTGAAAGA	0.393																																						ENST00000377957.2																			0				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.(307-309)gtG>gtA		F-box protein 48							142.0	127.0	132.0					2																	68691500		2203	4300	6503	SO:0001819	synonymous_variant	554251							g.chr2:68691500C>T	BC089423	CCDS33213.1	2p13.3	2011-03-09			ENSG00000204923	ENSG00000204923		"""F-boxes /  ""other"""""	33857	protein-coding gene	gene with protein product							Standard	XM_005264407		Approved		uc002seo.3	Q5FWF7	OTTHUMG00000152585	ENST00000377957.3:c.309G>A	2.37:g.68691500C>T							p.V103V	NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN			4	716	-			103						Silent	SNP	ENST00000377957.3	37	c.309G>A	CCDS33213.1																																																																																				0.393	FBXO48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326900.2	NM_001024680		8	30	0	0	0	1	0	8	30				
TMEM215	401498	broad.mit.edu	37	9	32784622	32784622	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:32784622G>T	ENST00000342743.5	+	2	806	c.441G>T	c.(439-441)caG>caT	p.Q147H		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	147						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						GAGAATGCCAGAGCCTCGTCC	0.632																																						ENST00000342743.5																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						c.(439-441)caG>caT		transmembrane protein 215							42.0	42.0	42.0					9																	32784622		2203	4300	6503	SO:0001583	missense	401498					integral to membrane		g.chr9:32784622G>T		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.441G>T	9.37:g.32784622G>T	ENSP00000345468:p.Gln147His						p.Q147H	NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN			2	806	+			147					Q6ZUU2	Missense_Mutation	SNP	ENST00000342743.5	37	c.441G>T	CCDS6530.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693559	0.30052	.	.	ENSG00000188133	ENST00000342743	.	.	.	5.82	3.95	0.45737	.	0.244820	0.34700	N	0.003746	T	0.30510	0.0767	N	0.08118	0	0.34599	D	0.716293	B	0.02656	0.0	B	0.04013	0.001	T	0.33828	-0.9853	9	0.54805	T	0.06	-9.549	9.0307	0.36258	0.0809:0.1514:0.7677:0.0	.	147	Q68D42	TM215_HUMAN	H	147	.	ENSP00000345468:Q147H	Q	+	3	2	TMEM215	32774622	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	3.422000	0.52749	1.431000	0.47355	0.655000	0.94253	CAG		0.632	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558		5	30	1	0	0.014758	1	0.0150934	5	30				
MYCBP2	23077	broad.mit.edu	37	13	77629732	77629732	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr13:77629732C>G	ENST00000544440.2	-	80	13511	c.13494G>C	c.(13492-13494)atG>atC	p.M4498I	MYCBP2_ENST00000357337.6_Missense_Mutation_p.M4498I|MYCBP2_ENST00000407578.2_Missense_Mutation_p.M4536I					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CATATCTATTCATTGCATAGC	0.343																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(13606-13608)atG>atC		MYC binding protein 2, E3 ubiquitin protein ligase							112.0	90.0	98.0					13																	77629732		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77629732C>G	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.13494G>C	13.37:g.77629732C>G	ENSP00000444596:p.Met4498Ile					MYCBP2_ENST00000357337.6_Missense_Mutation_p.M4498I|MYCBP2_ENST00000544440.2_Missense_Mutation_p.M4498I	p.M4536I	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	80	13874	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	4498						Missense_Mutation	SNP	ENST00000544440.2	37	c.13608G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.09|18.09	3.547115|3.547115	0.65311|0.65311	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000429715|ENST00000357337;ENST00000407578;ENST00000544440	.|T;T;T	.|0.36878	.|1.23;1.23;1.23	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56366|0.56366	0.1980|0.1980	M|M	0.85945|0.85945	2.785|2.785	0.80722|0.80722	D|D	1|1	.|P	.|0.35872	.|0.525	.|P	.|0.45428	.|0.48	T|T	0.62941|0.62941	-0.6747|-0.6747	5|10	.|0.72032	.|D	.|0.01	.|.	18.7211|18.7211	0.91694|0.91694	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4498	.|O75592	.|MYCB2_HUMAN	Q|I	919|4498;4536;4498	.|ENSP00000349892:M4498I;ENSP00000384288:M4536I;ENSP00000444596:M4498I	.|ENSP00000349892:M4498I	E|M	-|-	1|3	0|0	MYCBP2|MYCBP2	76527733|76527733	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.320000|7.320000	0.79064|0.79064	2.637000|2.637000	0.89404|0.89404	0.655000|0.655000	0.94253|0.94253	GAA|ATG		0.343	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		3	15	0	0	0	1	0	3	15				
GDPD4	220032	broad.mit.edu	37	11	76982353	76982353	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:76982353C>G	ENST00000376217.2	-	5	543	c.293G>C	c.(292-294)gGg>gCg	p.G98A	GDPD4_ENST00000315938.4_Missense_Mutation_p.G98A|GDPD4_ENST00000527489.1_5'Flank			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	98					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CATTGACAGCCCAGCTACCAG	0.433																																						ENST00000315938.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						c.(292-294)gGg>gCg		glycerophosphodiester phosphodiesterase domain containing 4							126.0	109.0	115.0					11																	76982353		2200	4292	6492	SO:0001583	missense	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76982353C>G	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.293G>C	11.37:g.76982353C>G	ENSP00000365390:p.Gly98Ala					GDPD4_ENST00000376217.2_Missense_Mutation_p.G98A	p.G98A	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN			5	543	-			98					Q7Z5B0	Missense_Mutation	SNP	ENST00000376217.2	37	c.293G>C		.	.	.	.	.	.	.	.	.	.	C	7.692	0.691314	0.15039	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.43294	0.95;0.95	4.38	3.38	0.38709	.	0.325362	0.28853	N	0.013937	T	0.53334	0.1790	M	0.67953	2.075	0.32166	N	0.582289	D	0.89917	1.0	D	0.85130	0.997	T	0.55711	-0.8098	10	0.17369	T	0.5	-16.1438	6.4417	0.21853	0.0:0.8643:0.0:0.1357	.	98	Q6W3E5-2	.	A	98	ENSP00000365390:G98A;ENSP00000320815:G98A	ENSP00000320815:G98A	G	-	2	0	GDPD4	76660001	0.675000	0.27558	0.969000	0.41365	0.038000	0.13279	2.056000	0.41355	2.284000	0.76573	0.313000	0.20887	GGG		0.433	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833		9	40	0	0	0	1	0	9	40				
CNGB1	1258	broad.mit.edu	37	16	57973370	57973370	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:57973370C>T	ENST00000251102.8	-	16	1396	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	CNGB1_ENST00000564448.1_Missense_Mutation_p.E440K|CNGB1_ENST00000564654.1_5'UTR	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	446					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCCTCAGGctcctccttggtc	0.617																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(1318-1320)Gag>Aag		cyclic nucleotide gated channel beta 1							74.0	87.0	83.0					16																	57973370		2082	4204	6286	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57973370C>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1336G>A	16.37:g.57973370C>T	ENSP00000251102:p.Glu446Lys					CNGB1_ENST00000251102.8_Missense_Mutation_p.E446K|CNGB1_ENST00000564654.1_5'UTR	p.E440K			Q14028	CNGB1_HUMAN			16	1378	-			446					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.1318G>A	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	9.519	1.107856	0.20714	.	.	ENSG00000070729	ENST00000251102	T	0.30714	1.52	1.9	0.816	0.18768	.	.	.	.	.	T	0.21550	0.0519	L	0.44542	1.39	0.18873	N	0.999985	B	0.18461	0.028	B	0.08055	0.003	T	0.23797	-1.0178	9	0.25106	T	0.35	.	5.8725	0.18810	0.0:0.6634:0.3366:0.0	.	446	Q14028	CNGB1_HUMAN	K	446	ENSP00000251102:E446K	ENSP00000251102:E446K	E	-	1	0	CNGB1	56530871	0.250000	0.23951	0.091000	0.20842	0.040000	0.13550	-0.470000	0.06639	0.286000	0.22352	0.462000	0.41574	GAG		0.617	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		5	31	0	0	0	1	0	5	31				
PPP2R3C	55012	broad.mit.edu	37	14	35579122	35579122	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:35579122G>T	ENST00000261475.5	-	4	660	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	PPP2R3C_ENST00000555644.1_Missense_Mutation_p.L103M	NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	103					activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		TGTTTGTCCAGCAAAAACCAT	0.358																																						ENST00000261475.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15						c.(307-309)Ctg>Atg		protein phosphatase 2, regulatory subunit B'', gamma							105.0	93.0	97.0					14																	35579122		2203	4300	6503	SO:0001583	missense	55012					centrosome|nucleus	calcium ion binding	g.chr14:35579122G>T	AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	17485	protein-coding gene	gene with protein product		615902	"""chromosome 14 open reading frame 10"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"""	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.307C>A	14.37:g.35579122G>T	ENSP00000261475:p.Leu103Met					PPP2R3C_ENST00000555644.1_Missense_Mutation_p.L103M	p.L103M	NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)	4	660	-	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		103					B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Missense_Mutation	SNP	ENST00000261475.5	37	c.307C>A	CCDS9654.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797069	0.70567	.	.	ENSG00000092020	ENST00000261475;ENST00000555644;ENST00000557278	T	0.35421	1.31	5.77	1.87	0.25490	.	0.062950	0.64402	D	0.000003	T	0.56337	0.1978	M	0.78801	2.425	0.52099	D	0.999946	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	T	0.54022	-0.8355	10	0.59425	D	0.04	-3.2535	9.5942	0.39565	0.1094:0.1129:0.7778:0.0	.	103;103	Q86US5;Q969Q6	.;P2R3C_HUMAN	M	103	ENSP00000261475:L103M	ENSP00000261475:L103M	L	-	1	2	PPP2R3C	34648873	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.325000	0.43840	0.070000	0.16634	-0.182000	0.12963	CTG		0.358	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276687.1	NM_017917		11	63	1	0	1.08611e-07	1	1.17929e-07	11	63				
MCF2L	23263	broad.mit.edu	37	13	113742891	113742891	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr13:113742891G>A	ENST00000375608.3	+	26	2931	c.2873G>A	c.(2872-2874)cGg>cAg	p.R958Q	MCF2L_ENST00000442652.2_Missense_Mutation_p.R958Q|MCF2L_ENST00000375597.4_Missense_Mutation_p.R926Q|MCF2L_ENST00000421756.1_Missense_Mutation_p.R932Q|MCF2L_ENST00000397030.1_Missense_Mutation_p.R961Q|MCF2L_ENST00000535094.2_Missense_Mutation_p.R928Q|MCF2L_ENST00000434480.2_Missense_Mutation_p.R934Q|MCF2L_ENST00000375604.2_Missense_Mutation_p.R985Q|MCF2L_ENST00000375601.3_Missense_Mutation_p.R932Q|MCF2L_ENST00000423482.2_Missense_Mutation_p.R926Q			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	958					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGCCAGCACCGGGCGCTGGAG	0.657																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(2881-2883)cGg>cAg		MCF.2 cell line derived transforming sequence-like																																				SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113742891G>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2873G>A	13.37:g.113742891G>A	ENSP00000364758:p.Arg958Gln					MCF2L_ENST00000375601.3_Missense_Mutation_p.R932Q|MCF2L_ENST00000375604.2_Missense_Mutation_p.R985Q|MCF2L_ENST00000535094.2_Missense_Mutation_p.R928Q|MCF2L_ENST00000442652.2_Missense_Mutation_p.R958Q|MCF2L_ENST00000421756.1_Missense_Mutation_p.R932Q|MCF2L_ENST00000423482.2_Missense_Mutation_p.R926Q|MCF2L_ENST00000375608.3_Missense_Mutation_p.R958Q|MCF2L_ENST00000434480.2_Missense_Mutation_p.R934Q|MCF2L_ENST00000375597.4_Missense_Mutation_p.R926Q	p.R961Q			O15068	MCF2L_HUMAN			25	2919	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	958					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.2882G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.589|5.589	0.293452|0.293452	0.10567|0.10567	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000413354;ENST00000261963|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	.|T;T;T;T;T;T;T;T;T;T	.|0.16324	.|2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35	4.14|4.14	2.4|2.4	0.29515|0.29515	.|Pleckstrin homology-type (1);	.|0.230483	.|0.31784	.|N	.|0.007071	T|T	0.11922|0.11922	0.0290|0.0290	M|M	0.70595|0.70595	2.14|2.14	0.19300|0.19300	N|N	0.999973|0.999973	.|P;P;P;P;P	.|0.45348	.|0.676;0.495;0.856;0.853;0.547	.|B;B;B;B;B	.|0.30716	.|0.046;0.034;0.078;0.119;0.021	T|T	0.32107|0.32107	-0.9919|-0.9919	5|10	.|0.09338	.|T	.|0.73	.|.	7.5847|7.5847	0.27985|0.27985	0.2655:0.0:0.7345:0.0|0.2655:0.0:0.7345:0.0	.|.	.|926;928;985;926;958	.|E9PDN8;O15068-9;G5E9A1;O15068-4;O15068	.|.;.;.;.;MCF2L_HUMAN	R|Q	158;99|958;958;985;961;928;932;932;934;926;926;769	.|ENSP00000364758:R958Q;ENSP00000401422:R958Q;ENSP00000364754:R985Q;ENSP00000380225:R961Q;ENSP00000440374:R928Q;ENSP00000397285:R932Q;ENSP00000364751:R932Q;ENSP00000407722:R934Q;ENSP00000405639:R926Q;ENSP00000364747:R926Q	.|ENSP00000364747:R926Q	G|R	+|+	1|2	0|0	MCF2L|MCF2L	112790892|112790892	0.980000|0.980000	0.34600|0.34600	0.032000|0.032000	0.17829|0.17829	0.168000|0.168000	0.22595|0.22595	4.143000|4.143000	0.58051|0.58051	0.247000|0.247000	0.21414|0.21414	-0.251000|-0.251000	0.11542|0.11542	GGG|CGG		0.657	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			4	14	0	0	0	1	0	4	14				
C3	718	broad.mit.edu	37	19	6718272	6718272	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:6718272G>C	ENST00000245907.6	-	3	511	c.419C>G	c.(418-420)aCc>aGc	p.T140S		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	140					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GGAGCCAGGGGTGTAGATGGT	0.652																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(418-420)aCc>aGc		complement component 3							61.0	51.0	55.0					19																	6718272		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6718272G>C	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.419C>G	19.37:g.6718272G>C	ENSP00000245907:p.Thr140Ser						p.T140S	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	3	511	-			140					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.419C>G	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375986	0.82682	.	.	ENSG00000125730	ENST00000245907	T	0.74106	-0.81	4.91	4.91	0.64330	Alpha-2-macroglobulin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88437	0.6436	M	0.90252	3.1	0.39819	D	0.972818	D	0.76494	0.999	D	0.75484	0.986	D	0.90754	0.4659	10	0.51188	T	0.08	.	16.9288	0.86184	0.0:0.0:1.0:0.0	.	140	P01024	CO3_HUMAN	S	140	ENSP00000245907:T140S	ENSP00000245907:T140S	T	-	2	0	C3	6669272	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	4.943000	0.63554	2.295000	0.77249	0.454000	0.30748	ACC		0.652	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		8	24	0	0	0	1	0	8	24				
LRRK1	79705	broad.mit.edu	37	15	101605686	101605686	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:101605686G>C	ENST00000388948.3	+	32	5403	c.5044G>C	c.(5044-5046)Gcg>Ccg	p.A1682P	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000532145.1_3'UTR|LRRK1_ENST00000284395.5_Missense_Mutation_p.A1679P	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.A1682T(1)|p.A1694T(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTTCAGCATCGCGGATGAAGA	0.612																																						ENST00000284395.5																			2	Substitution - Missense(2)	p.A1682T(1)|p.A1694T(1)	endometrium(2)	breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(5035-5037)Gcg>Ccg		leucine-rich repeat kinase 1							114.0	127.0	123.0					15																	101605686		2112	4239	6351	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101605686G>C	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5044G>C	15.37:g.101605686G>C	ENSP00000373600:p.Ala1682Pro					RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.A1682P|LRRK1_ENST00000532145.1_3'UTR	p.A1679P			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		33	5435	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1682						Missense_Mutation	SNP	ENST00000388948.3	37	c.5035G>C	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	0.046	-1.267148	0.01433	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.72167	-0.61;-0.63	5.56	-3.5	0.04710	WD40 repeat-like-containing domain (1);	0.658109	0.16134	N	0.228080	T	0.25975	0.0633	N	0.00538	-1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32241	-0.9914	10	0.30078	T	0.28	.	0.8738	0.01220	0.1738:0.3043:0.2509:0.271	.	1682	Q38SD2	LRRK1_HUMAN	P	1682;1679;373;236	ENSP00000373600:A1682P;ENSP00000284395:A1679P	ENSP00000284395:A1679P	A	+	1	0	LRRK1	99423209	0.000000	0.05858	0.154000	0.22540	0.000000	0.00434	-1.762000	0.01803	-0.206000	0.10203	-1.083000	0.02208	GCG		0.612	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		19	73	0	0	0	1	0	19	73				
TRAV40	28641	broad.mit.edu	37	14	22783229	22783229	+	RNA	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:22783229G>A	ENST00000390467.3	+	0	195									T cell receptor alpha variable 40																		AGCTTCTTCAGAGAGAGACAA	0.463																																						ENST00000390467.3																			0																				75.0	79.0	77.0					14																	22783229		1828	4078	5906			28641							g.chr14:22783229G>A	X73521		14q11.2	2012-02-07			ENSG00000211819	ENSG00000211819		"""T cell receptors / TRA locus"""	12141	other	T cell receptor gene						8412327	Standard	NG_001332		Approved	TCRAV31S1, TCRAV40S1			OTTHUMG00000170840		14.37:g.22783229G>A														0	195	+									RNA	SNP	ENST00000390467.3	37																																																																																						0.463	TRAV40-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000410666.1	NG_001332		39	40	0	0	0	1	0	39	40				
GPR156	165829	broad.mit.edu	37	3	119886327	119886327	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:119886327G>C	ENST00000464295.1	-	10	2442	c.1997C>G	c.(1996-1998)tCa>tGa	p.S666*	GPR156_ENST00000461057.1_Nonsense_Mutation_p.S662*|GPR156_ENST00000315843.3_Nonsense_Mutation_p.S666*			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	666						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TTGAGGATCTGAAGGTAGTGA	0.567																																						ENST00000464295.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(1996-1998)tCa>tGa		G protein-coupled receptor 156							56.0	53.0	54.0					3																	119886327		2203	4300	6503	SO:0001587	stop_gained	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119886327G>C	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1997C>G	3.37:g.119886327G>C	ENSP00000417261:p.Ser666*					GPR156_ENST00000315843.3_Nonsense_Mutation_p.S666*|GPR156_ENST00000461057.1_Nonsense_Mutation_p.S662*	p.S666*			Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	10	2442	-			666					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Nonsense_Mutation	SNP	ENST00000464295.1	37	c.1997C>G	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	G	35	5.530787	0.96446	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	.	.	.	5.28	4.41	0.53225	.	0.672061	0.14146	N	0.338351	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	1.337	13.0815	0.59117	0.0763:0.0:0.9236:0.0	.	.	.	.	X	666;666;662	.	.	S	-	2	0	GPR156	121369017	0.518000	0.26234	0.003000	0.11579	0.002000	0.02628	4.534000	0.60622	1.479000	0.48272	-0.251000	0.11542	TCA		0.567	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		6	40	0	0	0	1	0	6	40				
GPR61	83873	broad.mit.edu	37	1	110086442	110086442	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:110086442C>T	ENST00000527748.1	+	2	1481	c.798C>T	c.(796-798)gtC>gtT	p.V266V	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCACGATGGTCACCAGCTCGG	0.677																																						ENST00000527748.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23						c.(796-798)gtC>gtT		G protein-coupled receptor 61							40.0	48.0	45.0					1																	110086442		2202	4300	6502	SO:0001819	synonymous_variant	83873					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110086442C>T	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.798C>T	1.37:g.110086442C>T						RP5-1160K1.8_ENST00000526411.1_RNA	p.V266V	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	1481	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	266					A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Silent	SNP	ENST00000527748.1	37	c.798C>T	CCDS801.1																																																																																				0.677	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1			19	59	0	0	0	1	0	19	59				
YLPM1	56252	broad.mit.edu	37	14	75248748	75248748	+	Missense_Mutation	SNP	C	C	G	rs374833509		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:75248748C>G	ENST00000552421.1	+	4	2126	c.2002C>G	c.(2002-2004)Cca>Gca	p.P668A	YLPM1_ENST00000325680.7_Missense_Mutation_p.P668A|YLPM1_ENST00000238571.3_Missense_Mutation_p.P473A			P49750	YLPM1_HUMAN	YLP motif containing 1	473					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAAACCTAGACCAGCACTGCT	0.522																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(2002-2004)Cca>Gca		YLP motif containing 1							104.0	104.0	104.0					14																	75248748		2009	4180	6189	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75248748C>G	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.2002C>G	14.37:g.75248748C>G	ENSP00000447921:p.Pro668Ala					YLPM1_ENST00000238571.3_Missense_Mutation_p.P473A|YLPM1_ENST00000552421.1_Missense_Mutation_p.P668A	p.P668A	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	4	2126	+			473					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.2002C>G		.	.	.	.	.	.	.	.	.	.	C	11.26	1.584809	0.28268	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	6.02	5.13	0.70059	.	0.168249	0.42964	D	0.000630	T	0.48409	0.1498	L	0.27053	0.805	0.38218	D	0.940661	B	0.22683	0.073	B	0.27380	0.079	T	0.49716	-0.8910	9	0.48119	T	0.1	-3.9795	15.6286	0.76882	0.2497:0.7503:0.0:0.0	.	668	P49750-4	.	A	668;668;473;381	.	ENSP00000238571:P473A	P	+	1	0	YLPM1	74318501	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	2.022000	0.41030	1.529000	0.49120	0.655000	0.94253	CCA		0.522	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		11	47	0	0	0	1	0	11	47				
TBKBP1	9755	broad.mit.edu	37	17	45776755	45776755	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:45776755C>A	ENST00000361722.3	+	5	1553	c.704C>A	c.(703-705)gCc>gAc	p.A235D		NM_014726.2	NP_055541.1			TBK1 binding protein 1											endometrium(5)|kidney(1)|lung(1)	7						GCTTTGGAGGCCGCGCAGGGA	0.711											OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361722.3																			0				endometrium(5)|kidney(1)|lung(1)	7						c.(703-705)gCc>gAc		TBK1 binding protein 1							9.0	12.0	11.0					17																	45776755		1872	4085	5957	SO:0001583	missense	9755				innate immune response			g.chr17:45776755C>A	AB018318	CCDS45722.1	17q21.32	2012-05-17				ENSG00000198933			30140	protein-coding gene	gene with protein product		608476				14743216, 19481056	Standard	NM_014726		Approved	ProSAPiP2, KIAA0775	uc002ilu.3	A7MCY6		ENST00000361722.3:c.704C>A	17.37:g.45776755C>A	ENSP00000354777:p.Ala235Asp		OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	934		p.A235D	NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN			5	1553	+			235						Missense_Mutation	SNP	ENST00000361722.3	37	c.704C>A	CCDS45722.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986180	0.53934	.	.	ENSG00000198933	ENST00000361722	T	0.08370	3.1	5.41	4.44	0.53790	.	0.196287	0.43919	D	0.000509	T	0.03477	0.0100	N	0.08118	0	0.39546	D	0.968896	P	0.40731	0.728	B	0.31946	0.138	T	0.50964	-0.8765	10	0.48119	T	0.1	-3.6293	6.7929	0.23709	0.1745:0.7385:0.0:0.087	.	235	A7MCY6	TBKB1_HUMAN	D	235	ENSP00000354777:A235D	ENSP00000354777:A235D	A	+	2	0	TBKBP1	43131754	0.990000	0.36364	0.997000	0.53966	0.490000	0.33462	2.067000	0.41461	1.525000	0.49052	0.561000	0.74099	GCC		0.711	TBKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441363.1	NM_014726		3	10	1	0	1	1	1	3	10				
SORBS2	8470	broad.mit.edu	37	4	186544294	186544294	+	Silent	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:186544294G>T	ENST00000284776.7	-	13	2786	c.2277C>A	c.(2275-2277)cgC>cgA	p.R759R	SORBS2_ENST00000355634.5_Silent_p.R859R|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000431808.1_Silent_p.R759R|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_Silent_p.R663R	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	759					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CACTGATGAGGCGGTGCAGGA	0.572																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(2275-2277)cgC>cgA		sorbin and SH3 domain containing 2							147.0	166.0	160.0					4																	186544294		2203	4300	6503	SO:0001819	synonymous_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544294G>T		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2277C>A	4.37:g.186544294G>T						SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Silent_p.R859R|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Silent_p.R759R|SORBS2_ENST00000418609.1_Silent_p.R663R|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron	p.R759R			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2840	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	759					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.2277C>A	CCDS3845.1																																																																																				0.572	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		46	132	1	0	1.86277e-20	1	2.10145e-20	46	132				
KIF16B	55614	broad.mit.edu	37	20	16493547	16493547	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr20:16493547G>A	ENST00000354981.2	-	5	527	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	KIF16B_ENST00000408042.1_Missense_Mutation_p.R124W|KIF16B_ENST00000355755.3_Missense_Mutation_p.R124W|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	124	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCACAGATCCGAGGTATTAAG	0.458																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(370-372)Cgg>Tgg		kinesin family member 16B							94.0	84.0	87.0					20																	16493547		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16493547G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.370C>T	20.37:g.16493547G>A	ENSP00000347076:p.Arg124Trp					KIF16B_ENST00000408042.1_Missense_Mutation_p.R124W|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.R124W	p.R124W	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			5	527	-			124			Kinesin-motor.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.370C>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745234	0.89663	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.76709	-1.04;-1.04;-1.04	6.03	6.03	0.97812	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.93099	0.7803	H	0.98178	4.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.94950	0.8099	10	0.87932	D	0	.	18.7471	0.91797	0.0:0.0:1.0:0.0	.	124;124;124;124	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	W	124	ENSP00000347076:R124W;ENSP00000347995:R124W;ENSP00000384164:R124W	ENSP00000347076:R124W	R	-	1	2	KIF16B	16441547	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.020000	0.70826	2.854000	0.98071	0.655000	0.94253	CGG		0.458	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		4	20	0	0	0	1	0	4	20				
SEPT2	4735	broad.mit.edu	37	2	242283205	242283205	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:242283205G>T	ENST00000391973.2	+	9	1263	c.735G>T	c.(733-735)ttG>ttT	p.L245F	SEPT2_ENST00000407971.1_Missense_Mutation_p.L205F|SEPT2_ENST00000402092.2_Missense_Mutation_p.L245F|SEPT2_ENST00000360051.3_Missense_Mutation_p.L245F|SEPT2_ENST00000391971.2_Missense_Mutation_p.L245F|SEPT2_ENST00000401990.1_Missense_Mutation_p.L255F	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	245	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		CCAATCAGTTGATTGAAGCCA	0.517																																						ENST00000391973.2																			0				central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(733-735)ttG>ttT		septin 2							308.0	316.0	314.0					2																	242283205		2203	4300	6503	SO:0001583	missense	4735				cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding	g.chr2:242283205G>T	D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.735G>T	2.37:g.242283205G>T	ENSP00000375834:p.Leu245Phe					SEPT2_ENST00000407971.1_Missense_Mutation_p.L205F|SEPT2_ENST00000401990.1_Missense_Mutation_p.L255F|SEPT2_ENST00000391971.2_Missense_Mutation_p.L245F|SEPT2_ENST00000402092.2_Missense_Mutation_p.L245F|SEPT2_ENST00000360051.3_Missense_Mutation_p.L245F	p.L245F	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)	9	1263	+		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	245					B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	ENST00000391973.2	37	c.735G>T	CCDS2548.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008165	0.54361	.	.	ENSG00000168385	ENST00000391973;ENST00000360051;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000402092;ENST00000391972;ENST00000421717	T;T;T;T;T;T;T	0.53206	1.41;1.41;1.41;1.41;0.63;1.41;0.63	6.08	5.18	0.71444	.	0.068342	0.64402	D	0.000010	T	0.38506	0.1043	N	0.25201	0.72	0.58432	D	0.999998	B;B;B	0.17268	0.021;0.005;0.003	B;B;B	0.22152	0.038;0.01;0.02	T	0.17258	-1.0375	10	0.56958	D	0.05	.	16.2944	0.82763	0.0:0.3726:0.6274:0.0	.	280;205;245	Q15019-2;B5MCX3;Q15019	.;.;SEPT2_HUMAN	F	245;245;245;255;205;245;280;100	ENSP00000375834:L245F;ENSP00000353157:L245F;ENSP00000375832:L245F;ENSP00000385109:L255F;ENSP00000384525:L205F;ENSP00000385172:L245F;ENSP00000408296:L100F	ENSP00000353157:L245F	L	+	3	2	SEPT2	241931878	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	4.286000	0.58995	1.545000	0.49373	0.655000	0.94253	TTG		0.517	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	NM_006155		56	144	1	0	3.85841e-42	1	4.38949e-42	56	144				
SEMA3G	56920	broad.mit.edu	37	3	52474988	52474988	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:52474988G>A	ENST00000231721.2	-	8	889	c.890C>T	c.(889-891)cCc>cTc	p.P297L		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	297	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		ACCAGGGCCGGGCACCGAGCA	0.642																																						ENST00000231721.2																			0				kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18						c.(889-891)cCc>cTc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G							29.0	32.0	31.0					3																	52474988		2203	4300	6503	SO:0001583	missense	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52474988G>A		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.890C>T	3.37:g.52474988G>A	ENSP00000231721:p.Pro297Leu						p.P297L	NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	8	889	-			297			Sema.		Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	ENST00000231721.2	37	c.890C>T	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146144	0.57044	.	.	ENSG00000010319	ENST00000231721	T	0.13307	2.6	4.34	3.47	0.39725	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.060317	0.64402	N	0.000002	T	0.41719	0.1171	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.48969	-0.8987	10	0.66056	D	0.02	.	12.2076	0.54361	0.0825:0.0:0.9175:0.0	.	297	Q9NS98	SEM3G_HUMAN	L	297	ENSP00000231721:P297L	ENSP00000231721:P297L	P	-	2	0	SEMA3G	52450028	1.000000	0.71417	0.800000	0.32199	0.058000	0.15608	6.565000	0.73974	1.073000	0.40885	0.561000	0.74099	CCC		0.642	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		13	25	0	0	0	1	0	13	25				
SLC9A3	6550	broad.mit.edu	37	5	475148	475148	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:475148G>A	ENST00000264938.3	-	16	2360	c.2351C>T	c.(2350-2352)tCg>tTg	p.S784L	CTD-2228K2.5_ENST00000342584.3_5'Flank|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.5_ENST00000510714.1_5'Flank|SLC9A3_ENST00000514375.1_Missense_Mutation_p.S775L|CTD-2228K2.7_ENST00000606319.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.5_ENST00000510604.1_5'Flank	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	784					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGCCCTCTGCGAGGGGACCAC	0.672																																						ENST00000264938.3																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(2350-2352)tCg>tTg		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							24.0	29.0	27.0					5																	475148		2201	4298	6499	SO:0001583	missense	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:475148G>A		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.2351C>T	5.37:g.475148G>A	ENSP00000264938:p.Ser784Leu					SLC9A3_ENST00000514375.1_Missense_Mutation_p.S775L|CTD-2228K2.7_ENST00000607286.1_RNA	p.S784L	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		16	2360	-			784					B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.2351C>T	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481700	0.63849	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.73789	-0.78;-0.78	4.81	4.81	0.61882	.	0.206535	0.42294	D	0.000732	D	0.83229	0.5209	M	0.77820	2.39	0.44194	D	0.997011	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	T	0.80455	-0.1375	10	0.16420	T	0.52	.	11.0846	0.48080	0.0869:0.0:0.9131:0.0	.	775;784	E9PF67;P48764	.;SL9A3_HUMAN	L	784;775	ENSP00000264938:S784L;ENSP00000422983:S775L	ENSP00000264938:S784L	S	-	2	0	SLC9A3	528148	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	8.535000	0.90623	2.231000	0.72958	0.462000	0.41574	TCG		0.672	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		6	19	0	0	0	1	0	6	19				
UBR5	51366	broad.mit.edu	37	8	103359282	103359282	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr8:103359282C>T	ENST00000520539.1	-	6	1031	c.425G>A	c.(424-426)gGa>gAa	p.G142E	UBR5_ENST00000220959.4_Missense_Mutation_p.G142E|UBR5_ENST00000521922.1_Missense_Mutation_p.G142E	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	142					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ACCAGAGGATCCTCCACCACT	0.488																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(424-426)gGa>gAa		ubiquitin protein ligase E3 component n-recognin 5							104.0	113.0	110.0					8																	103359282		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103359282C>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.425G>A	8.37:g.103359282C>T	ENSP00000429084:p.Gly142Glu					UBR5_ENST00000521922.1_Missense_Mutation_p.G142E|UBR5_ENST00000220959.4_Missense_Mutation_p.G142E	p.G142E	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		6	1031	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		142					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.425G>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346511	0.95807	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.42513	0.97;0.97;0.98	5.66	5.66	0.87406	.	0.064498	0.64402	D	0.000007	T	0.62841	0.2461	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.59690	-0.7407	10	0.51188	T	0.08	.	20.1253	0.97977	0.0:1.0:0.0:0.0	.	142;142	E7EMW7;O95071	.;UBR5_HUMAN	E	142	ENSP00000429084:G142E;ENSP00000220959:G142E;ENSP00000427819:G142E	ENSP00000220959:G142E	G	-	2	0	UBR5	103428458	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	6.003000	0.70701	2.832000	0.97577	0.655000	0.94253	GGA		0.488	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		36	99	0	0	0	1	0	36	99				
SPIN4	139886	broad.mit.edu	37	X	62570773	62570773	+	De_novo_Start_OutOfFrame	SNP	A	A	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:62570773A>C	ENST00000335144.3	-	0	445				SPIN4_ENST00000374884.2_De_novo_Start_OutOfFrame|SPIN4-AS1_ENST00000451979.1_RNA	NM_001012968.2	NP_001012986.2	Q56A73	SPIN4_HUMAN	spindlin family, member 4						gamete generation (GO:0007276)					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						AACACTATGCAATATGATATA	0.473																																						ENST00000374884.2																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11								spindlin family, member 4																																						139886				gamete generation			g.chrX:62570773A>C	AK126931	CCDS43964.1	Xq11.1	2008-02-05			ENSG00000186767	ENSG00000186767			27040	protein-coding gene	gene with protein product						12477932	Standard	NM_001012968		Approved	FLJ44984	uc004dvf.3	Q56A73	OTTHUMG00000021696	ENST00000335144.3:c.-75T>G	X.37:g.62570773A>C						SPIN4_ENST00000335144.3_De_novo_Start_OutOfFrame|SPIN4-AS1_ENST00000451979.1_RNA				Q56A73	SPIN4_HUMAN			0	450	-								B3KX90|Q5JUL2	Translation_Start_Site	SNP	ENST00000335144.3	37		CCDS43964.1																																																																																				0.473	SPIN4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012968		10	10	0	0	0	1	0	10	10				
SLC5A9	200010	broad.mit.edu	37	1	48705107	48705107	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:48705107G>A	ENST00000438567.2	+	12	1627	c.1575G>A	c.(1573-1575)ctG>ctA	p.L525L	SLC5A9_ENST00000533824.1_Silent_p.L546L|SLC5A9_ENST00000236495.5_Silent_p.L550L	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	525					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CAGCAGTGCTGAAGGACTTCC	0.582																																						ENST00000236495.5																			0				breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						c.(1648-1650)ctG>ctA		solute carrier family 5 (sodium/sugar cotransporter), member 9							273.0	240.0	251.0					1																	48705107		2203	4300	6503	SO:0001819	synonymous_variant	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48705107G>A	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1575G>A	1.37:g.48705107G>A						SLC5A9_ENST00000438567.2_Silent_p.L525L|SLC5A9_ENST00000533824.1_Silent_p.L546L	p.L550L	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN			13	1700	+			525					B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Silent	SNP	ENST00000438567.2	37	c.1650G>A	CCDS30709.2																																																																																				0.582	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		24	96	0	0	0	1	0	24	96				
NPHP1	4867	broad.mit.edu	37	2	110917743	110917743	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:110917743G>A	ENST00000393272.3	-	11	1306	c.1209C>T	c.(1207-1209)ctC>ctT	p.L403L	NPHP1_ENST00000445609.2_Silent_p.L348L|NPHP1_ENST00000355301.4_Silent_p.L285L|NPHP1_ENST00000417665.1_Silent_p.L347L|NPHP1_ENST00000316534.4_Silent_p.L404L	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	403					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CATGTCTGCTGAGAACCTGTA	0.373																																						ENST00000316534.4																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						c.(1210-1212)ctC>ctT		nephronophthisis 1 (juvenile)							123.0	120.0	121.0					2																	110917743		2203	4300	6503	SO:0001819	synonymous_variant	4867				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	g.chr2:110917743G>A	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.1209C>T	2.37:g.110917743G>A						NPHP1_ENST00000393272.3_Silent_p.L403L|NPHP1_ENST00000417665.1_Silent_p.L347L|NPHP1_ENST00000355301.4_Silent_p.L285L|NPHP1_ENST00000445609.2_Silent_p.L348L	p.L404L			O15259	NPHP1_HUMAN			11	1285	-			403					O14837	Silent	SNP	ENST00000393272.3	37	c.1212C>T	CCDS46385.1																																																																																				0.373	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		16	28	0	0	0	1	0	16	28				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	22	0	0	0	1	0	3	22				
DNAH7	56171	broad.mit.edu	37	2	196661404	196661404	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:196661404C>T	ENST00000312428.6	-	56	10511	c.10411G>A	c.(10411-10413)Gct>Act	p.A3471T	DNAH7_ENST00000409063.1_5'Flank	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3471	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.A3471P(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCTTCATAGCAATGGGCCCT	0.413																																						ENST00000312428.6																			1	Substitution - Missense(1)	p.A3471P(1)	lung(1)	NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(10411-10413)Gct>Act		dynein, axonemal, heavy chain 7							82.0	79.0	80.0					2																	196661404		1876	4098	5974	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196661404C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10411G>A	2.37:g.196661404C>T	ENSP00000311273:p.Ala3471Thr						p.A3471T	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			56	10511	-			3471			AAA 6 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.10411G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	35	5.418519	0.96092	.	.	ENSG00000118997	ENST00000312428	T	0.28454	1.61	5.4	5.4	0.78164	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.77032	0.4071	H	0.99777	4.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87902	0.2691	10	0.87932	D	0	.	18.9684	0.92706	0.0:1.0:0.0:0.0	.	3471	Q8WXX0	DYH7_HUMAN	T	3471	ENSP00000311273:A3471T	ENSP00000311273:A3471T	A	-	1	0	DNAH7	196369649	1.000000	0.71417	0.732000	0.30844	0.993000	0.82548	7.555000	0.82223	2.814000	0.96858	0.655000	0.94253	GCT		0.413	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		6	12	0	0	0	1	0	6	12				
SMARCA2	6595	broad.mit.edu	37	9	2192726	2192726	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:2192726C>T	ENST00000382203.1	+	34	4969	c.4760C>T	c.(4759-4761)aCg>aTg	p.T1587M	SMARCA2_ENST00000349721.2_Missense_Mutation_p.T1587M|SMARCA2_ENST00000382194.1_Missense_Mutation_p.T1569M|SMARCA2_ENST00000357248.2_Missense_Mutation_p.T1569M|SMARCA2_ENST00000302401.3_Missense_Mutation_p.T275M|SMARCA2_ENST00000382186.1_Missense_Mutation_p.T251M|SMARCA2_ENST00000324954.5_Missense_Mutation_p.T233M|SMARCA2_ENST00000382185.1_Missense_Mutation_p.T233M			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1587					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GGAAGTGGGACGGATGATGAG	0.373																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(4759-4761)aCg>aTg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							204.0	178.0	187.0					9																	2192726		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2192726C>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.4760C>T	9.37:g.2192726C>T	ENSP00000371638:p.Thr1587Met					SMARCA2_ENST00000302401.3_Missense_Mutation_p.T275M|SMARCA2_ENST00000357248.2_Missense_Mutation_p.T1569M|SMARCA2_ENST00000324954.5_Missense_Mutation_p.T233M|SMARCA2_ENST00000382186.1_Missense_Mutation_p.T251M|SMARCA2_ENST00000382194.1_Missense_Mutation_p.T1569M|SMARCA2_ENST00000382185.1_Missense_Mutation_p.T233M|SMARCA2_ENST00000349721.2_Missense_Mutation_p.T1587M	p.T1587M			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	34	4969	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	1587					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.4760C>T	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473784	0.43942	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194;ENST00000302401;ENST00000324954;ENST00000382186;ENST00000382185;ENST00000382183;ENST00000382182	D;D;D;D;T;T;T;T;T	0.87256	-2.23;-2.23;-2.23;-2.23;3.0;3.17;3.05;3.17;3.17	5.59	5.59	0.84812	.	0.061993	0.64402	D	0.000009	D	0.83055	0.5171	L	0.29908	0.895	0.34574	D	0.713696	P;P;D;D	0.56287	0.913;0.913;0.975;0.957	B;B;P;B	0.45660	0.128;0.128;0.489;0.412	D	0.89003	0.3423	10	0.87932	D	0	-17.4171	14.1049	0.65083	0.0:0.7297:0.2703:0.0	.	273;275;1569;1587	B4DNT1;B1ALF6;P51531-2;P51531	.;.;.;SMCA2_HUMAN	M	1587;1569;1587;1569;275;233;251;233;233;116	ENSP00000265773:T1587M;ENSP00000349788:T1569M;ENSP00000371638:T1587M;ENSP00000371629:T1569M;ENSP00000305411:T275M;ENSP00000324770:T233M;ENSP00000371621:T251M;ENSP00000371620:T233M;ENSP00000371618:T233M	ENSP00000305411:T275M	T	+	2	0	SMARCA2	2182726	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.825000	0.62708	2.610000	0.88304	0.650000	0.86243	ACG		0.373	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		8	31	0	0	0	1	0	8	31				
PEAK1	79834	broad.mit.edu	37	15	77425448	77425448	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:77425448C>G	ENST00000560626.2	-	6	4451	c.3976G>C	c.(3976-3978)Gac>Cac	p.D1326H	PEAK1_ENST00000312493.4_Missense_Mutation_p.D1326H			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1326	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										AGCCTGAAGTCTGACCAGCTG	0.453																																						ENST00000560626.2																			0											c.(3976-3978)Gac>Cac		pseudopodium-enriched atypical kinase 1							93.0	93.0	93.0					15																	77425448		1935	4143	6078	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77425448C>G		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3976G>C	15.37:g.77425448C>G	ENSP00000452796:p.Asp1326His					PEAK1_ENST00000312493.4_Missense_Mutation_p.D1326H	p.D1326H			Q9H792	PEAK1_HUMAN			6	4451	-			1326			Protein kinase.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.3976G>C	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237413	0.39498	.	.	ENSG00000173517	ENST00000312493	T	0.30182	1.54	5.41	5.41	0.78517	Protein kinase, catalytic domain (1);	0.056021	0.64402	D	0.000001	T	0.23249	0.0562	N	0.20401	0.57	0.51482	D	0.999923	B	0.32071	0.355	B	0.28638	0.092	T	0.03335	-1.1047	10	0.37606	T	0.19	-7.0037	19.1871	0.93648	0.0:1.0:0.0:0.0	.	1326	Q9H792	PEAK1_HUMAN	H	1326	ENSP00000309230:D1326H	ENSP00000309230:D1326H	D	-	1	0	AC087465.1	75212503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.190000	0.65104	2.536000	0.85505	0.655000	0.94253	GAC		0.453	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			7	45	0	0	0	1	0	7	45				
ICAM3	3385	broad.mit.edu	37	19	10444650	10444650	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:10444650G>A	ENST00000160262.5	-	7	1735	c.1527C>T	c.(1525-1527)gtC>gtT	p.V509V	RAVER1_ENST00000293677.6_5'Flank|ICAM3_ENST00000589261.1_Silent_p.V432V	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	509					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GCTCCCTGAAGACGTACATTA	0.572																																						ENST00000589261.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(1294-1296)gtC>gtT		intercellular adhesion molecule 3							160.0	126.0	138.0					19																	10444650		2203	4300	6503	SO:0001819	synonymous_variant	3385				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr19:10444650G>A		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.1527C>T	19.37:g.10444650G>A						ICAM3_ENST00000160262.5_Silent_p.V509V	p.V432V			P32942	ICAM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)		7	1828	-			509			Ig-like C2-type 5.		Q6PD68	Silent	SNP	ENST00000160262.5	37	c.1296C>T	CCDS12235.1																																																																																				0.572	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			18	58	0	0	0	1	0	18	58				
MUC6	4588	broad.mit.edu	37	11	1016760	1016760	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:1016760G>T	ENST00000421673.2	-	31	6091	c.6041C>A	c.(6040-6042)aCc>aAc	p.T2014N		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2014	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACCAAGGAGGTGGAGAAAGG	0.537																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(6040-6042)aCc>aAc		mucin 6, oligomeric mucus/gel-forming							937.0	877.0	897.0					11																	1016760		2203	4297	6500	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016760G>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6041C>A	11.37:g.1016760G>T	ENSP00000406861:p.Thr2014Asn						p.T2014N	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	6091	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2014			Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.6041C>A	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.419572	0.42918	.	.	ENSG00000184956	ENST00000421673	T	0.37915	1.17	2.87	1.92	0.25849	.	.	.	.	.	T	0.44726	0.1307	L	0.59436	1.845	0.09310	N	1	D	0.69078	0.997	P	0.57911	0.829	T	0.25433	-1.0132	9	0.24483	T	0.36	.	8.0016	0.30299	0.1375:0.0:0.8625:0.0	.	2014	Q6W4X9	MUC6_HUMAN	N	2014	ENSP00000406861:T2014N	ENSP00000406861:T2014N	T	-	2	0	MUC6	1006760	0.018000	0.18449	0.012000	0.15200	0.059000	0.15707	1.902000	0.39848	0.506000	0.28125	0.313000	0.20887	ACC		0.537	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		30	633	1	0	3.1745e-13	1	3.55158e-13	30	633				
CDC42BPG	55561	broad.mit.edu	37	11	64602360	64602360	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:64602360C>T	ENST00000342711.5	-	18	2135	c.2136G>A	c.(2134-2136)ttG>ttA	p.L712L	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CTACGTTCCTCAAGGACTCCA	0.627																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(2134-2136)ttG>ttA		CDC42 binding protein kinase gamma (DMPK-like)							82.0	84.0	83.0					11																	64602360		2201	4297	6498	SO:0001819	synonymous_variant	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64602360C>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.2136G>A	11.37:g.64602360C>T							p.L712L	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			18	2135	-			712						Silent	SNP	ENST00000342711.5	37	c.2136G>A	CCDS31601.1																																																																																				0.627	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		14	35	0	0	0	1	0	14	35				
ZFYVE28	57732	broad.mit.edu	37	4	2306243	2306243	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:2306243C>T	ENST00000290974.2	-	8	2163	c.1824G>A	c.(1822-1824)gaG>gaA	p.E608E	ZFYVE28_ENST00000515312.1_Silent_p.E538E|ZFYVE28_ENST00000511071.1_Silent_p.E578E|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	608					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCTCCTGTCTCTCAGGGGCCC	0.672																																						ENST00000290974.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(1822-1824)gaG>gaA		zinc finger, FYVE domain containing 28							26.0	31.0	30.0					4																	2306243		2203	4299	6502	SO:0001819	synonymous_variant	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2306243C>T	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1824G>A	4.37:g.2306243C>T						RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Silent_p.E578E|ZFYVE28_ENST00000515312.1_Silent_p.E538E	p.E608E	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN			8	2163	-			608					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP	ENST00000290974.2	37	c.1824G>A	CCDS33942.1																																																																																				0.672	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		7	41	0	0	0	1	0	7	41				
ABLIM3	22885	broad.mit.edu	37	5	148577791	148577791	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:148577791G>A	ENST00000506113.1	+	3	643	c.161G>A	c.(160-162)tGt>tAt	p.C54Y	ABLIM3_ENST00000356541.3_Missense_Mutation_p.C54Y|ABLIM3_ENST00000504238.1_Missense_Mutation_p.C54Y|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.C54Y|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.C54Y|ABLIM3_ENST00000326685.7_Missense_Mutation_p.C54Y			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	54	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTATGTGGCTGTGGCCTGGCC	0.577																																						ENST00000506113.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(160-162)tGt>tAt		actin binding LIM protein family, member 3							130.0	119.0	123.0					5																	148577791		2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148577791G>A	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.161G>A	5.37:g.148577791G>A	ENSP00000425394:p.Cys54Tyr					ABLIM3_ENST00000508983.1_Missense_Mutation_p.C54Y|ABLIM3_ENST00000326685.7_Missense_Mutation_p.C54Y|ABLIM3_ENST00000309868.7_Missense_Mutation_p.C54Y|ABLIM3_ENST00000504238.1_Missense_Mutation_p.C54Y|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000356541.3_Missense_Mutation_p.C54Y	p.C54Y			O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	643	+			54			LIM zinc-binding 1.		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.161G>A	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764848	0.90020	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983	D;D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.24;-2.24	5.06	5.06	0.68205	Zinc finger, LIM-type (5);	0.046261	0.85682	D	0.000000	D	0.92828	0.7719	M	0.86028	2.79	0.80722	D	1	B;B;P	0.46395	0.178;0.216;0.877	B;B;P	0.54238	0.116;0.154;0.746	D	0.93509	0.6851	10	0.59425	D	0.04	.	18.8492	0.92220	0.0:0.0:1.0:0.0	.	54;54;54	O94929-3;O94929-2;O94929	.;.;ABLM3_HUMAN	Y	54	ENSP00000315841:C54Y;ENSP00000348938:C54Y;ENSP00000310309:C54Y;ENSP00000425394:C54Y;ENSP00000421183:C54Y;ENSP00000420855:C54Y	ENSP00000310309:C54Y	C	+	2	0	ABLIM3	148557984	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.526000	0.85167	0.555000	0.69702	TGT		0.577	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		28	52	0	0	0	1	0	28	52				
SENP5	205564	broad.mit.edu	37	3	196650417	196650417	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:196650417G>A	ENST00000323460.5	+	7	2266	c.2017G>A	c.(2017-2019)Gta>Ata	p.V673I	SENP5_ENST00000445299.2_Intron|SENP5_ENST00000419026.1_Missense_Mutation_p.V163I	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	673	Protease.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TAAGTTTTGTGTAGAGGTAAG	0.343																																					Ovarian(47;891 1095 11174 13858 51271)	ENST00000323460.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32						c.(2017-2019)Gta>Ata		SUMO1/sentrin specific peptidase 5							112.0	109.0	110.0					3																	196650417		2202	4299	6501	SO:0001583	missense	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196650417G>A	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.2017G>A	3.37:g.196650417G>A	ENSP00000327197:p.Val673Ile					SENP5_ENST00000445299.2_Intron|SENP5_ENST00000419026.1_Missense_Mutation_p.V163I	p.V673I	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	7	2266	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		673			Protease.		B4DY82|Q96SA5	Missense_Mutation	SNP	ENST00000323460.5	37	c.2017G>A	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705651	0.68615	.	.	ENSG00000119231	ENST00000323460;ENST00000419026	T;T	0.26810	1.71;1.71	4.66	4.66	0.58398	.	0.360731	0.29995	N	0.010667	T	0.32496	0.0831	N	0.17872	0.535	0.43841	D	0.996425	D	0.61697	0.99	P	0.60682	0.878	T	0.10405	-1.0631	10	0.49607	T	0.09	-5.3985	15.4162	0.74970	0.0:0.0:1.0:0.0	.	673	Q96HI0	SENP5_HUMAN	I	673;163	ENSP00000327197:V673I;ENSP00000396927:V163I	ENSP00000327197:V673I	V	+	1	0	SENP5	198134814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.251000	0.65438	2.305000	0.77605	0.555000	0.69702	GTA		0.343	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		8	25	0	0	0	1	0	8	25				
ZBED8	63920	broad.mit.edu	37	5	159821580	159821580	+	Silent	SNP	T	T	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:159821580T>G	ENST00000408953.3	-	2	1425	c.918A>C	c.(916-918)ccA>ccC	p.P306P	C5orf54_ENST00000523213.1_Silent_p.P306P	NM_022090.3	NP_071373.2														breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						ggcgatgatttggagctctcc	0.413																																						ENST00000408953.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(916-918)ccA>ccC		chromosome 5 open reading frame 54							92.0	94.0	93.0					5																	159821580		2203	4299	6502	SO:0001819	synonymous_variant	63920							g.chr5:159821580T>G																												ENST00000408953.3:c.918A>C	5.37:g.159821580T>G						C5orf54_ENST00000523213.1_Silent_p.P306P	p.P306P	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN			2	1425	-			306						Silent	SNP	ENST00000408953.3	37	c.918A>C	CCDS34283.1																																																																																				0.413	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374143.1			11	43	0	0	0	1	0	11	43				
TTC27	55622	broad.mit.edu	37	2	32865416	32865416	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:32865416T>G	ENST00000317907.4	+	4	707	c.476T>G	c.(475-477)aTa>aGa	p.I159R		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	159										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TCGAAGCCTATACTACTGTTA	0.403																																						ENST00000317907.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(475-477)aTa>aGa		tetratricopeptide repeat domain 27							133.0	119.0	124.0					2																	32865416		2203	4300	6503	SO:0001583	missense	55622						protein binding	g.chr2:32865416T>G	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.476T>G	2.37:g.32865416T>G	ENSP00000313953:p.Ile159Arg						p.I159R	NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN			4	707	+			159					A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	c.476T>G	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	T	7.902	0.734582	0.15574	.	.	ENSG00000018699	ENST00000448773;ENST00000317907	T	0.59638	0.25	5.46	5.46	0.80206	.	0.386648	0.27023	N	0.021318	T	0.60353	0.2262	M	0.75447	2.3	0.22620	N	0.998926	P	0.34837	0.472	B	0.41088	0.347	T	0.54289	-0.8316	10	0.13108	T	0.6	-2.0393	13.0699	0.59055	0.0:0.0:0.0:1.0	.	159	Q6P3X3	TTC27_HUMAN	R	109;159	ENSP00000313953:I159R	ENSP00000313953:I159R	I	+	2	0	TTC27	32718920	0.639000	0.27234	0.027000	0.17364	0.001000	0.01503	5.328000	0.65887	2.077000	0.62373	0.533000	0.62120	ATA		0.403	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		10	25	0	0	0	1	0	10	25				
MUC5AC	4586	broad.mit.edu	37	11	1214006	1214006	+	Splice_Site	SNP	A	A	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:1214006A>G	ENST00000358378.6	+	2	991		c.e2-1					P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming						cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		TTCCTCTTACAGGATCCACCA	0.532																																						ENST00000358378.6																			0				NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203						c.e2-1		mucin 5AC, oligomeric mucus/gel-forming							56.0	53.0	54.0					11																	1214006		872	1987	2859	SO:0001630	splice_region_variant	4586							g.chr11:1214006A>G	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000358378.6:c.992-1A>G	11.37:g.1214006A>G													BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)	2	991	+		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)						O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Splice_Site	SNP	ENST00000358378.6	37																																																																																						0.532	MUC5AC-002	PUTATIVE	basic|exp_conf	processed_transcript	protein_coding	OTTHUMT00000396096.2	XM_001130382	Intron	9	15	0	0	0	1	0	9	15				
BCAT2	587	broad.mit.edu	37	19	49299706	49299706	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:49299706C>A	ENST00000316273.6	-	10	1131	c.1119G>T	c.(1117-1119)caG>caT	p.Q373H	BCAT2_ENST00000545387.2_Missense_Mutation_p.Q281H|BCAT2_ENST00000402551.1_Missense_Mutation_p.Q333H|BCAT2_ENST00000597011.1_Missense_Mutation_p.Q333H|BCAT2_ENST00000598162.1_Missense_Mutation_p.Q373H|BCAT2_ENST00000599246.1_Missense_Mutation_p.Q281H	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	373					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	TCAGCTCCTTCTGGAAGCGGA	0.597																																						ENST00000402551.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12						c.(997-999)caG>caT		branched chain amino-acid transaminase 2, mitochondrial	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)						135.0	121.0	126.0					19																	49299706		2203	4300	6503	SO:0001583	missense	587					mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr19:49299706C>A	U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"""branched chain aminotransferase 2, mitochondrial"""	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.1119G>T	19.37:g.49299706C>A	ENSP00000322991:p.Gln373His					BCAT2_ENST00000598162.1_Missense_Mutation_p.Q373H|BCAT2_ENST00000545387.2_Missense_Mutation_p.Q281H|BCAT2_ENST00000599246.1_Missense_Mutation_p.Q281H|BCAT2_ENST00000316273.6_Missense_Mutation_p.Q373H|BCAT2_ENST00000597011.1_Missense_Mutation_p.Q333H	p.Q333H			O15382	BCAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	11	1619	-		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	373					B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Missense_Mutation	SNP	ENST00000316273.6	37	c.999G>T	CCDS12735.1	.	.	.	.	.	.	.	.	.	.	C	8.236	0.805844	0.16467	.	.	ENSG00000105552	ENST00000316273;ENST00000545387;ENST00000402551	T;T;T	0.18502	2.21;2.21;2.21	4.66	1.08	0.20341	.	0.926895	0.09247	N	0.828439	T	0.08980	0.0222	N	0.12961	0.28	0.31011	N	0.719247	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.36065	-0.9763	10	0.26408	T	0.33	0.3026	5.4661	0.16644	0.0:0.4766:0.3428:0.1805	.	333;373;281;373	B3KSI3;Q53EW7;O15382-2;O15382	.;.;.;BCAT2_HUMAN	H	373;281;333	ENSP00000322991:Q373H;ENSP00000440973:Q281H;ENSP00000385161:Q333H	ENSP00000322991:Q373H	Q	-	3	2	BCAT2	53991518	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	0.592000	0.23984	0.227000	0.20999	0.561000	0.74099	CAG		0.597	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466202.1			24	62	1	0	7.92952e-12	1	8.77447e-12	24	62				
DUOX1	53905	broad.mit.edu	37	15	45439714	45439714	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:45439714G>A	ENST00000321429.4	+	20	2813	c.2406G>A	c.(2404-2406)ctG>ctA	p.L802L	DUOX1_ENST00000561166.1_Silent_p.L448L|DUOX1_ENST00000389037.3_Silent_p.L802L	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	802					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCTGTGAGCTGAGCAGGGCCG	0.622																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(2404-2406)ctG>ctA		dual oxidase 1							47.0	41.0	43.0					15																	45439714		2198	4298	6496	SO:0001819	synonymous_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45439714G>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.2406G>A	15.37:g.45439714G>A						DUOX1_ENST00000561166.1_Silent_p.L448L|DUOX1_ENST00000389037.3_Silent_p.L802L	p.L802L	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	20	2813	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	802					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	c.2406G>A	CCDS32221.1																																																																																				0.622	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		7	10	0	0	0	1	0	7	10				
RPTOR	57521	broad.mit.edu	37	17	78897295	78897295	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:78897295C>T	ENST00000306801.3	+	23	2992	c.2630C>T	c.(2629-2631)tCc>tTc	p.S877F	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.S719F	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	877					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGCAGGGGCTCCCCTCCGGCG	0.632																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(2629-2631)tCc>tTc		regulatory associated protein of MTOR, complex 1							42.0	46.0	44.0					17																	78897295		2202	4300	6502	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78897295C>T		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.2630C>T	17.37:g.78897295C>T	ENSP00000307272:p.Ser877Phe					RPTOR_ENST00000544334.2_Missense_Mutation_p.S719F|RPTOR_ENST00000575542.1_3'UTR	p.S877F	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			23	2992	+			877					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.2630C>T	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152565	0.78001	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.52983	0.73;0.64	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.68155	0.2970	M	0.65498	2.005	0.80722	D	1	D;D	0.64830	0.994;0.987	D;P	0.77004	0.989;0.735	T	0.72060	-0.4404	10	0.72032	D	0.01	.	18.1491	0.89668	0.0:1.0:0.0:0.0	.	719;877	F5H7J5;Q8N122	.;RPTOR_HUMAN	F	877;719	ENSP00000307272:S877F;ENSP00000442479:S719F	ENSP00000307272:S877F	S	+	2	0	RPTOR	76511890	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	7.064000	0.76721	2.265000	0.75225	0.591000	0.81541	TCC		0.632	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		8	24	0	0	0	1	0	8	24				
TRNT1	51095	broad.mit.edu	37	3	3186340	3186340	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:3186340G>T	ENST00000251607.6	+	5	656	c.554G>T	c.(553-555)gGa>gTa	p.G185V	TRNT1_ENST00000280591.6_Missense_Mutation_p.G185V	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	185					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		AGATTTGTTGGACATGCTAAA	0.254																																						ENST00000251607.6																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12						c.(553-555)gGa>gTa		tRNA nucleotidyl transferase, CCA-adding, 1							48.0	56.0	53.0					3																	3186340		2198	4292	6490	SO:0001583	missense	51095				protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding	g.chr3:3186340G>T	AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.554G>T	3.37:g.3186340G>T	ENSP00000251607:p.Gly185Val					TRNT1_ENST00000280591.6_Missense_Mutation_p.G185V	p.G185V	NM_182916.2	NP_886552.2	Q96Q11	TRNT1_HUMAN		Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)	5	656	+			185					A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Missense_Mutation	SNP	ENST00000251607.6	37	c.554G>T	CCDS2561.2	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769138	0.90020	.	.	ENSG00000072756	ENST00000251607;ENST00000280591	T;T	0.55234	0.53;0.6	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.85039	0.5606	H	0.98918	4.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90819	0.4707	10	0.87932	D	0	-3.914	19.8579	0.96771	0.0:0.0:1.0:0.0	.	185;185	Q96Q11-2;Q96Q11	.;TRNT1_HUMAN	V	185	ENSP00000251607:G185V;ENSP00000280591:G185V	ENSP00000251607:G185V	G	+	2	0	TRNT1	3161340	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	9.606000	0.98325	2.687000	0.91594	0.655000	0.94253	GGA		0.254	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337616.1			13	23	1	0	7.03913e-09	1	7.70499e-09	13	23				
LPP	4026	broad.mit.edu	37	3	188590551	188590551	+	Splice_Site	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:188590551G>A	ENST00000312675.4	+	10	1956	c.1710G>A	c.(1708-1710)gaG>gaA	p.E570E	LPP_ENST00000543006.1_Splice_Site_p.E570E	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	570	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		ACCGATGCGAGGTCTGGTTGA	0.532			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	"""HMGA2, MLL, C12orf9"""		"""lipoma, leukemia"""	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.e10+1		LIM domain containing preferred translocation partner in lipoma							86.0	65.0	72.0					3																	188590551		2203	4300	6503	SO:0001630	splice_region_variant	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188590551G>A	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1710+1G>A	3.37:g.188590551G>A						LPP_ENST00000543006.1_Splice_Site_p.E570_splice	p.E570_splice	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	10	1956	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	570			LIM zinc-binding 3.		A1L4L6|D3DNV6|Q8NFX5	Splice_Site	SNP	ENST00000312675.4	37	c.1710_splice	CCDS3291.1																																																																																				0.532	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578	Silent	11	24	0	0	0	1	0	11	24				
AZIN1	51582	broad.mit.edu	37	8	103851015	103851015	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr8:103851015C>A	ENST00000337198.5	-	5	1569	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	AZIN1_ENST00000347770.4_Nonsense_Mutation_p.E136*|AZIN1_ENST00000522311.1_5'UTR	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	136					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of protein catabolic process (GO:0042177)|polyamine biosynthetic process (GO:0006596)|positive regulation of polyamine transmembrane transport (GO:1902269)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|enzyme inhibitor activity (GO:0004857)|ornithine decarboxylase activator activity (GO:0042978)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			AATTCAATTTCATTGTCACAT	0.338																																						ENST00000337198.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9						c.(406-408)Gaa>Taa		antizyme inhibitor 1							150.0	136.0	140.0					8																	103851015		2203	4300	6503	SO:0001587	stop_gained	51582				polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding	g.chr8:103851015C>A	AAC25391	CCDS6295.1	8p22-q21.3	2005-03-21	2005-03-21	2005-03-21		ENSG00000155096			16432	protein-coding gene	gene with protein product	"""ornithine decarboxylase 1-like"""	607909	"""ornithine decarboxylase antizyme inhibitor"""	OAZIN		9349715, 9110174	Standard	XM_005250969		Approved	OAZI, ODC1L	uc003yky.3	O14977		ENST00000337198.5:c.406G>T	8.37:g.103851015C>A	ENSP00000337180:p.Glu136*					AZIN1_ENST00000347770.4_Nonsense_Mutation_p.E136*|AZIN1_ENST00000522311.1_5'UTR	p.E136*	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)		5	1569	-	Lung NSC(17;0.000143)|all_lung(17;0.000294)		136					A6NCD5|Q6IBQ7|Q96D20	Nonsense_Mutation	SNP	ENST00000337198.5	37	c.406G>T	CCDS6295.1	.	.	.	.	.	.	.	.	.	.	C	42	9.740687	0.99252	.	.	ENSG00000155096	ENST00000337198;ENST00000347770	.	.	.	5.37	5.37	0.77165	.	0.097482	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-8.1179	19.1087	0.93309	0.0:1.0:0.0:0.0	.	.	.	.	X	136	.	ENSP00000337180:E136X	E	-	1	0	AZIN1	103920191	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.778000	0.62368	2.534000	0.85438	0.655000	0.94253	GAA		0.338	AZIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380133.1			3	8	1	0	0.004672	1	0.00481466	3	8				
PIK3R5	23533	broad.mit.edu	37	17	8784301	8784301	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:8784301G>T	ENST00000447110.1	-	18	2540	c.2416C>A	c.(2416-2418)Cag>Aag	p.Q806K	PIK3R5_ENST00000581552.1_Missense_Mutation_p.Q806K|PIK3R5_ENST00000584803.1_Missense_Mutation_p.Q805K	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	806					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CCGATGATCTGCACCTTGTCC	0.572																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(2416-2418)Cag>Aag		phosphoinositide-3-kinase, regulatory subunit 5							120.0	105.0	110.0					17																	8784301		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8784301G>T	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.2416C>A	17.37:g.8784301G>T	ENSP00000392812:p.Gln806Lys					PIK3R5_ENST00000584803.1_Missense_Mutation_p.Q805K|PIK3R5_ENST00000581552.1_Missense_Mutation_p.Q806K	p.Q806K	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			18	2540	-			806					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.2416C>A	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735873	0.49045	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	D	0.82803	-1.65	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.85191	0.5640	L	0.34521	1.04	0.80722	D	1	D	0.56746	0.977	P	0.59703	0.862	D	0.85524	0.1205	10	0.44086	T	0.13	-24.7272	17.9349	0.89009	0.0:0.0:1.0:0.0	.	806	Q8WYR1	PI3R5_HUMAN	K	806	ENSP00000392812:Q806K	ENSP00000269300:Q806K	Q	-	1	0	PIK3R5	8725026	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.079000	0.76829	2.321000	0.78463	0.561000	0.74099	CAG		0.572	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		12	42	1	0	0.00010058	1	0.000105258	12	42				
DEDD2	162989	broad.mit.edu	37	19	42713954	42713954	+	Missense_Mutation	SNP	G	G	A	rs537426887		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:42713954G>A	ENST00000595337.1	-	4	574	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000336034.4_Missense_Mutation_p.R158W|DEDD2_ENST00000598727.1_Missense_Mutation_p.R163W|DEDD2_ENST00000596251.1_Missense_Mutation_p.R163W	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	163					apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)	p.R163W(1)		endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CCACTGGGCCGGCCCCGACTC	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		12100	0.0		0.0	False		,,,				2504	0.001					ENST00000595337.1																			1	Substitution - Missense(1)	p.R163W(1)	ovary(1)	endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5						c.(487-489)Cgg>Tgg		death effector domain containing 2							17.0	21.0	19.0					19																	42713954		2110	4159	6269	SO:0001583	missense	162989				activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity	g.chr19:42713954G>A	AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.487C>T	19.37:g.42713954G>A	ENSP00000470082:p.Arg163Trp					DEDD2_ENST00000598727.1_Missense_Mutation_p.R163W|DEDD2_ENST00000596251.1_Missense_Mutation_p.R163W|DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000336034.4_Missense_Mutation_p.R158W	p.R163W	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN			4	574	-		Prostate(69;0.0704)	163					Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Missense_Mutation	SNP	ENST00000595337.1	37	c.487C>T	CCDS12597.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949374	0.53186	.	.	ENSG00000160570	ENST00000336034	.	.	.	3.81	3.81	0.43845	.	0.121832	0.53938	D	0.000044	T	0.51686	0.1689	N	0.08118	0	0.41493	D	0.988238	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.985	T	0.62445	-0.6853	9	0.87932	D	0	-16.6677	13.6018	0.62024	0.0:0.0:1.0:0.0	.	158;163	Q8WXF8-2;Q8WXF8	.;DEDD2_HUMAN	W	163	.	ENSP00000336972:R163W	R	-	1	2	DEDD2	47405794	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	2.355000	0.44107	2.426000	0.82243	0.467000	0.42956	CGG		0.662	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463508.1	NM_133328		8	65	0	0	0	1	0	8	65				
ASXL3	80816	broad.mit.edu	37	18	31324706	31324706	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr18:31324706G>C	ENST00000269197.5	+	12	4894	c.4894G>C	c.(4894-4896)Gaa>Caa	p.E1632Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1632				E -> K (in Ref. 2; BAB71186). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TAAACAAAAAGAATATCTAGA	0.428											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(4894-4896)Gaa>Caa		additional sex combs like 3 (Drosophila)							41.0	42.0	42.0					18																	31324706		1927	4133	6060	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31324706G>C	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4894G>C	18.37:g.31324706G>C	ENSP00000269197:p.Glu1632Gln		OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	823		p.E1632Q	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	4894	+			1632					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.4894G>C	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	9.800	1.180290	0.21787	.	.	ENSG00000141431	ENST00000269197	T	0.17213	2.29	5.96	5.1	0.69264	.	.	.	.	.	T	0.16599	0.0399	L	0.27053	0.805	0.28672	N	0.905577	P	0.38250	0.624	B	0.39706	0.307	T	0.05784	-1.0864	9	0.48119	T	0.1	.	15.4806	0.75524	0.0661:0.0:0.9339:0.0	.	1632	Q9C0F0	ASXL3_HUMAN	Q	1632	ENSP00000269197:E1632Q	ENSP00000269197:E1632Q	E	+	1	0	ASXL3	29578704	1.000000	0.71417	0.127000	0.21898	0.587000	0.36485	5.466000	0.66731	1.546000	0.49388	-0.126000	0.14955	GAA		0.428	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			5	15	0	0	0	1	0	5	15				
TMEM132A	54972	broad.mit.edu	37	11	60694810	60694810	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:60694810G>C	ENST00000453848.2	+	2	393	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	RP11-881M11.4_ENST00000543907.1_RNA|TMEM132A_ENST00000005286.4_Missense_Mutation_p.E79Q			Q24JP5	T132A_HUMAN	transmembrane protein 132A	79						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTCCCGATCTGAGACCTTTCT	0.657																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(235-237)Gag>Cag		transmembrane protein 132A							51.0	57.0	55.0					11																	60694810		2203	4299	6502	SO:0001583	missense	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60694810G>C	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.235G>C	11.37:g.60694810G>C	ENSP00000405823:p.Glu79Gln					TMEM132A_ENST00000453848.2_Missense_Mutation_p.E79Q	p.E79Q	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			2	388	+			79					Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.235G>C	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460137	0.84317	.	.	ENSG00000006118	ENST00000453848;ENST00000005286	T;T	0.09723	2.95;2.95	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.34513	0.0900	M	0.78049	2.395	0.41687	D	0.989324	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.983;0.983	T	0.19063	-1.0317	10	0.87932	D	0	.	15.8062	0.78513	0.0:0.0:1.0:0.0	.	68;79;79	Q24JP5-3;Q24JP5;Q24JP5-2	.;T132A_HUMAN;.	Q	79	ENSP00000405823:E79Q;ENSP00000005286:E79Q	ENSP00000005286:E79Q	E	+	1	0	TMEM132A	60451386	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.107000	0.71517	2.328000	0.79073	0.462000	0.41574	GAG		0.657	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		19	50	0	0	0	1	0	19	50				
MYO1A	4640	broad.mit.edu	37	12	57437747	57437747	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:57437747C>T	ENST00000442789.2	-	11	1072	c.785G>A	c.(784-786)cGa>cAa	p.R262Q	MYO1A_ENST00000300119.3_Missense_Mutation_p.R262Q|MYO1A_ENST00000544473.1_Missense_Mutation_p.R100Q	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	262	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TAGCACTTGTCGAATCTCCTC	0.512																																						ENST00000442789.2																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(784-786)cGa>cAa		myosin IA							213.0	144.0	167.0					12																	57437747		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57437747C>T	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.785G>A	12.37:g.57437747C>T	ENSP00000393392:p.Arg262Gln					MYO1A_ENST00000544473.1_Missense_Mutation_p.R100Q|MYO1A_ENST00000300119.3_Missense_Mutation_p.R262Q	p.R262Q	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			11	1072	-			262			Myosin head-like.		Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.785G>A	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	C	5.670	0.308187	0.10733	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.87729	-2.29;-2.29;-2.29	5.46	-1.32	0.09201	Myosin head, motor domain (2);	0.514393	0.21238	N	0.077868	T	0.61862	0.2381	N	0.01352	-0.895	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.54840	-0.8233	10	0.15499	T	0.54	.	10.378	0.44094	0.0:0.4572:0.0:0.5428	.	262	Q9UBC5	MYO1A_HUMAN	Q	262;262;100	ENSP00000300119:R262Q;ENSP00000393392:R262Q;ENSP00000440514:R100Q	ENSP00000300119:R262Q	R	-	2	0	MYO1A	55724014	0.021000	0.18746	0.010000	0.14722	0.876000	0.50452	0.115000	0.15540	-0.342000	0.08363	-1.731000	0.00696	CGA		0.512	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		17	45	0	0	0	1	0	17	45				
FAT1	2195	broad.mit.edu	37	4	187628110	187628110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:187628110G>A	ENST00000441802.2	-	2	3081	c.2872C>T	c.(2872-2874)Cag>Tag	p.Q958*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	958	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGACCAGACTGACCTAAATCA	0.473										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(2872-2874)Cag>Tag		FAT atypical cadherin 1							202.0	191.0	195.0					4																	187628110		1920	4148	6068	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187628110G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2872C>T	4.37:g.187628110G>A	ENSP00000406229:p.Gln958*	HNSCC(5;0.00058)					p.Q958*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	3081	-			958			Cadherin 8.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.2872C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	39	7.856937	0.98528	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.67	4.67	0.58626	.	0.197036	0.45361	D	0.000376	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	18.1062	0.89520	0.0:0.0:1.0:0.0	.	.	.	.	X	958	.	ENSP00000260147:Q958X	Q	-	1	0	FAT1	187865104	1.000000	0.71417	0.988000	0.46212	0.018000	0.09664	5.361000	0.66092	2.579000	0.87056	0.491000	0.48974	CAG		0.473	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		26	67	0	0	0	1	0	26	67				
MROH2B	133558	broad.mit.edu	37	5	41033196	41033196	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:41033196C>T	ENST00000399564.4	-	23	2758	c.2308G>A	c.(2308-2310)Gag>Aag	p.E770K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E325K	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	770																	CCCTGATCCTCAGCATCTTGG	0.443																																						ENST00000399564.4																			0											c.(2308-2310)Gag>Aag		maestro heat-like repeat family member 2B							124.0	116.0	119.0					5																	41033196		2023	4178	6201	SO:0001583	missense	133558							g.chr5:41033196C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2308G>A	5.37:g.41033196C>T	ENSP00000382476:p.Glu770Lys					MROH2B_ENST00000506092.2_Missense_Mutation_p.E325K	p.E770K	NM_173489.4	NP_775760.3					23	2758	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.2308G>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364195	0.24684	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.04551	3.6;3.6	5.55	4.68	0.58851	Armadillo-type fold (1);	0.987626	0.08235	N	0.976943	T	0.04952	0.0133	N	0.25144	0.715	0.34345	D	0.689194	B	0.25904	0.137	B	0.29942	0.109	T	0.29150	-1.0021	10	0.11485	T	0.65	.	12.0372	0.53431	0.0:0.8019:0.1981:0.0	.	770	Q7Z745	HTRB2_HUMAN	K	325;475;770	ENSP00000441504:E325K;ENSP00000382476:E770K	ENSP00000296803:E475K	E	-	1	0	HEATR7B2	41068953	0.064000	0.20934	1.000000	0.80357	0.292000	0.27327	1.477000	0.35431	1.338000	0.45544	0.655000	0.94253	GAG		0.443	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		10	23	0	0	0	1	0	10	23				
TRPC6	7225	broad.mit.edu	37	11	101347192	101347192	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:101347192C>T	ENST00000344327.3	-	6	2008	c.1584G>A	c.(1582-1584)atG>atA	p.M528I	TRPC6_ENST00000360497.4_Missense_Mutation_p.M473I|TRPC6_ENST00000348423.4_Missense_Mutation_p.M412I|TRPC6_ENST00000532133.1_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	528					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CAAAATCAAGCATGTTCCACA	0.418																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1582-1584)atG>atA		transient receptor potential cation channel, subfamily C, member 6							93.0	86.0	88.0					11																	101347192		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101347192C>T	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1584G>A	11.37:g.101347192C>T	ENSP00000340913:p.Met528Ile					TRPC6_ENST00000348423.4_Missense_Mutation_p.M412I|TRPC6_ENST00000532133.1_Intron|TRPC6_ENST00000360497.4_Missense_Mutation_p.M473I	p.M528I	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	6	2008	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	528					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.1584G>A	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	9.017	0.984051	0.18889	.	.	ENSG00000137672	ENST00000344327;ENST00000348423;ENST00000360497	D;D;D	0.97994	-2.32;-4.65;-4.65	5.67	5.67	0.87782	Ion transport (1);	0.128895	0.64402	D	0.000001	D	0.90034	0.6888	N	0.01257	-0.925	0.41222	D	0.986511	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.002;0.002;0.004	D	0.87008	0.2121	10	0.12103	T	0.63	-28.5143	14.9232	0.70856	0.1431:0.8569:0.0:0.0	.	473;412;528	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	I	528;412;473	ENSP00000340913:M528I;ENSP00000343672:M412I;ENSP00000353687:M473I	ENSP00000340913:M528I	M	-	3	0	TRPC6	100852402	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	1.215000	0.32431	2.831000	0.97527	0.643000	0.83706	ATG		0.418	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		11	42	0	0	0	1	0	11	42				
CDH20	28316	broad.mit.edu	37	18	59203765	59203765	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr18:59203765C>G	ENST00000262717.4	+	8	1709	c.1311C>G	c.(1309-1311)ttC>ttG	p.F437L	CDH20_ENST00000536675.2_Missense_Mutation_p.F437L|CDH20_ENST00000538374.1_Missense_Mutation_p.F437L			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	437	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAAGATTTTTCTATGTTGACA	0.413																																						ENST00000262717.4																			0				breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61						c.(1309-1311)ttC>ttG		cadherin 20, type 2							205.0	193.0	197.0					18																	59203765		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59203765C>G	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1311C>G	18.37:g.59203765C>G	ENSP00000262717:p.Phe437Leu					CDH20_ENST00000536675.2_Missense_Mutation_p.F437L|CDH20_ENST00000538374.1_Missense_Mutation_p.F437L	p.F437L			Q9HBT6	CAD20_HUMAN			8	1709	+		Colorectal(73;0.186)	437			Cadherin 4.		Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.1311C>G	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609464	0.46527	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	D;D;D	0.82526	-1.62;-1.62;-1.62	5.23	3.41	0.39046	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.82788	0.5113	M	0.85197	2.74	0.48341	D	0.999631	B	0.15141	0.012	B	0.22880	0.042	T	0.80502	-0.1354	10	0.46703	T	0.11	.	8.9497	0.35781	0.0:0.6683:0.0:0.3317	.	437	Q9HBT6	CAD20_HUMAN	L	437	ENSP00000444767:F437L;ENSP00000442226:F437L;ENSP00000262717:F437L	ENSP00000262717:F437L	F	+	3	2	CDH20	57354745	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.374000	0.34283	1.344000	0.45657	0.549000	0.68633	TTC		0.413	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		25	54	0	0	0	1	0	25	54				
INTS6	26512	broad.mit.edu	37	13	51961614	51961614	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr13:51961614T>A	ENST00000311234.4	-	7	1274	c.802A>T	c.(802-804)Ata>Tta	p.I268L	INTS6_ENST00000398119.2_Missense_Mutation_p.I255L|INTS6_ENST00000463928.1_Missense_Mutation_p.I268L|INTS6_ENST00000490542.1_5'Flank|INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000497989.1_Missense_Mutation_p.I90L|INTS6_ENST00000420668.2_3'UTR	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	268					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		CTGACATATATGAGTTTGTGA	0.408																																						ENST00000311234.4																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(802-804)Ata>Tta		integrator complex subunit 6							83.0	76.0	78.0					13																	51961614		2203	4300	6503	SO:0001583	missense	26512				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	g.chr13:51961614T>A	AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.802A>T	13.37:g.51961614T>A	ENSP00000310260:p.Ile268Leu					INTS6_ENST00000398119.2_Missense_Mutation_p.I255L|INTS6_ENST00000463928.1_Missense_Mutation_p.I268L|INTS6_ENST00000497989.1_Missense_Mutation_p.I90L|INTS6_ENST00000420668.2_3'UTR|INTS6_ENST00000425000.1_5'UTR	p.I268L	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN		GBM - Glioblastoma multiforme(99;7.7e-08)	7	1274	-		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)	268					Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	ENST00000311234.4	37	c.802A>T	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.037545	0.75617	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989	T;T;T	0.57273	0.41;0.41;0.41	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.60521	0.2275	M	0.74389	2.26	0.80722	D	1	D	0.55172	0.97	P	0.49140	0.601	T	0.64462	-0.6402	10	0.42905	T	0.14	-11.3122	13.825	0.63346	0.0:0.0:0.0:1.0	.	268	Q9UL03	INT6_HUMAN	L	268;255;90	ENSP00000310260:I268L;ENSP00000381187:I255L;ENSP00000419871:I90L	ENSP00000310260:I268L	I	-	1	0	INTS6	50859615	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.264000	0.72527	1.909000	0.55274	0.459000	0.35465	ATA		0.408	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		8	22	0	0	0	1	0	8	22				
MYOCD	93649	broad.mit.edu	37	17	12647665	12647665	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:12647665C>A	ENST00000343344.4	+	8	883	c.883C>A	c.(883-885)Ctg>Atg	p.L295M	MYOCD_ENST00000425538.1_Missense_Mutation_p.L295M|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.L199M			Q8IZQ8	MYCD_HUMAN	myocardin	295	Gln-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCAACAGCAGCTGTTCCTGCA	0.552																																						ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(883-885)Ctg>Atg		myocardin							60.0	46.0	51.0					17																	12647665		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12647665C>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.883C>A	17.37:g.12647665C>A	ENSP00000341835:p.Leu295Met					MYOCD_ENST00000343344.4_Missense_Mutation_p.L295M|MYOCD_ENST00000395988.1_Missense_Mutation_p.L199M	p.L295M	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	8	1083	+			295			Gln-rich.		Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.883C>A	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021655	0.75275	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988	T	0.61980	0.06	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.79082	0.4386	M	0.86028	2.79	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.998;0.996	T	0.80867	-0.1190	10	0.52906	T	0.07	-5.0708	10.6749	0.45781	0.0:0.9102:0.0:0.0898	.	14;199;295;295	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	M	14;295;295;199	ENSP00000341835:L295M	ENSP00000341835:L295M	L	+	1	2	MYOCD	12588390	1.000000	0.71417	0.994000	0.49952	0.946000	0.59487	6.058000	0.71126	2.328000	0.79073	0.561000	0.74099	CTG		0.552	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		14	26	1	0	4.3838e-07	1	4.72191e-07	14	26				
SUZ12P1	440423	broad.mit.edu	37	17	29061819	29061819	+	RNA	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:29061819G>T	ENST00000582557.1	+	0	739																											TTCCATAGCAGATGACAAGTT	0.313																																						ENST00000582557.1																			0																																																			440423							g.chr17:29061819G>T																													17.37:g.29061819G>T														0	739	+									RNA	SNP	ENST00000582557.1	37																																																																																						0.313	SUZ12P-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444260.1			3	6	1	0	0.115264	1	0.116124	3	6				
RPS6KA5	9252	broad.mit.edu	37	14	91360786	91360786	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:91360786C>T	ENST00000261991.3	-	13	1788	c.1615G>A	c.(1615-1617)Gga>Aga	p.G539R	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.G460R|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.G539R	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	539	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TGCACCACTCCAACATCATGC	0.438																																						ENST00000261991.3																			0				endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(1615-1617)Gga>Aga		ribosomal protein S6 kinase, 90kDa, polypeptide 5							145.0	122.0	130.0					14																	91360786		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91360786C>T	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.1615G>A	14.37:g.91360786C>T	ENSP00000261991:p.Gly539Arg					RPS6KA5_ENST00000536315.2_Missense_Mutation_p.G460R|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.G539R	p.G539R	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	13	1788	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	539			Protein kinase 2.		O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.1615G>A	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465751	0.84425	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.56275	0.47;0.47;0.47	5.66	5.66	0.87406	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70298	0.3208	L	0.55103	1.725	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.962;0.996	T	0.69105	-0.5233	10	0.51188	T	0.08	.	19.7559	0.96291	0.0:1.0:0.0:0.0	.	539;539	O75582-2;O75582	.;KS6A5_HUMAN	R	539;460;539	ENSP00000261991:G539R;ENSP00000442803:G460R;ENSP00000402787:G539R	ENSP00000261991:G539R	G	-	1	0	RPS6KA5	90430539	1.000000	0.71417	0.615000	0.29064	0.892000	0.51952	7.818000	0.86416	2.656000	0.90262	0.655000	0.94253	GGA		0.438	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		12	70	0	0	0	1	0	12	70				
C17orf64	124773	broad.mit.edu	37	17	58511373	58511373	+	IGR	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:58511373C>G	ENST00000269127.4	+	0	950				RPL12P38_ENST00000588627.1_RNA	NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64											breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			CCACCTCAATCTGGGCCTGTC	0.483																																						ENST00000588627.1																			0																																																	SO:0001628	intergenic_variant	645688							g.chr17:58511373C>G	BC048806	CCDS32698.2	17q23.2	2005-12-16			ENSG00000141371	ENSG00000141371			26990	protein-coding gene	gene with protein product						12477932	Standard	NM_181707		Approved		uc002iyq.3	Q86WR6	OTTHUMG00000157171		17.37:g.58511373C>G														0	1984	-								Q8IY87	RNA	SNP	ENST00000269127.4	37		CCDS32698.2																																																																																				0.483	C17orf64-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000347743.1	NM_181707		6	15	0	0	0	1	0	6	15				
MARCKSL1	65108	broad.mit.edu	37	1	32800239	32800239	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:32800239C>G	ENST00000329421.7	-	2	892	c.547G>C	c.(547-549)Gag>Cag	p.E183Q		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	183					positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGGCCACTCTCCGGCCCCGAG	0.612																																						ENST00000329421.7																			0				breast(1)|large_intestine(3)|lung(1)|ovary(1)	6						c.(547-549)Gag>Cag		MARCKS-like 1							53.0	51.0	52.0					1																	32800239		2203	4300	6503	SO:0001583	missense	65108					plasma membrane	calmodulin binding	g.chr1:32800239C>G	AF031640	CCDS361.1	1p35.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000175130	ENSG00000175130			7142	protein-coding gene	gene with protein product		602940	"""MARCKS-like protein"""	MLP		9598313	Standard	NM_023009		Approved	F52, MacMARCKS, MLP1	uc001bvd.4	P49006	OTTHUMG00000007589	ENST00000329421.7:c.547G>C	1.37:g.32800239C>G	ENSP00000362638:p.Glu183Gln						p.E183Q	NM_023009.6	NP_075385.1	P49006	MRP_HUMAN			2	892	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	183					D3DPQ0|Q5TEE6|Q6NXS5	Missense_Mutation	SNP	ENST00000329421.7	37	c.547G>C	CCDS361.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162660	0.57368	.	.	ENSG00000175130	ENST00000329421	T	0.46451	0.87	5.43	5.43	0.79202	.	0.278908	0.34460	N	0.003946	T	0.49575	0.1565	N	0.22421	0.69	0.43559	D	0.995875	D	0.76494	0.999	D	0.69824	0.966	T	0.50964	-0.8765	10	0.66056	D	0.02	-13.9901	14.1783	0.65557	0.1497:0.8503:0.0:0.0	.	183	P49006	MRP_HUMAN	Q	183	ENSP00000362638:E183Q	ENSP00000362638:E183Q	E	-	1	0	MARCKSL1	32572826	0.948000	0.32251	0.997000	0.53966	0.985000	0.73830	2.075000	0.41538	2.753000	0.94483	0.556000	0.70494	GAG		0.612	MARCKSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020059.3	NM_023009		17	40	0	0	0	1	0	17	40				
THSD7B	80731	broad.mit.edu	37	2	138169408	138169408	+	Silent	SNP	A	A	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:138169408A>G	ENST00000409968.1	+	14	3103	c.2925A>G	c.(2923-2925)ggA>ggG	p.G975G	THSD7B_ENST00000272643.3_Silent_p.G975G|THSD7B_ENST00000413152.2_Silent_p.G944G|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	975	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATAAAAATGGAAGACCTGTTG	0.532																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(2923-2925)ggA>ggG		thrombospondin, type I, domain containing 7B							49.0	50.0	50.0					2																	138169408		1939	4143	6082	SO:0001819	synonymous_variant	80731							g.chr2:138169408A>G			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2925A>G	2.37:g.138169408A>G						THSD7B_ENST00000272643.3_Silent_p.G975G|THSD7B_ENST00000413152.2_Silent_p.G944G|THSD7B_ENST00000543459.1_Intron	p.G975G						BRCA - Breast invasive adenocarcinoma(221;0.19)	14	3103	+									Silent	SNP	ENST00000409968.1	37	c.2925A>G																																																																																					0.532	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		10	31	0	0	0	1	0	10	31				
ATP5C1	509	broad.mit.edu	37	10	7830209	7830209	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:7830209G>C	ENST00000356708.7	+	1	118	c.39G>C	c.(37-39)tgG>tgC	p.W13C	KIN_ENST00000543003.1_5'Flank|ATP5C1_ENST00000541227.1_5'UTR|KIN_ENST00000379562.4_5'Flank|ATP5C1_ENST00000335698.4_Missense_Mutation_p.W13C|KIN_ENST00000535925.1_5'Flank|ATP5C1_ENST00000493053.1_3'UTR	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	13					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						TGTCGGCCTGGACCTTGCAGC	0.672																																					Melanoma(143;1012 1820 16249 30920 33158)	ENST00000356708.7																			0				breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(37-39)tgG>tgC		ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1							37.0	34.0	35.0					10																	7830209		2203	4300	6503	SO:0001583	missense	509				oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr10:7830209G>C	D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.39G>C	10.37:g.7830209G>C	ENSP00000349142:p.Trp13Cys					ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000541227.1_5'UTR|ATP5C1_ENST00000335698.4_Missense_Mutation_p.W13C	p.W13C	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN			1	118	+			13					A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Missense_Mutation	SNP	ENST00000356708.7	37	c.39G>C	CCDS31142.1	.	.	.	.	.	.	.	.	.	.	G	4.717	0.133417	0.09032	.	.	ENSG00000165629	ENST00000356708;ENST00000335698	.	.	.	5.86	3.73	0.42828	.	0.703007	0.13601	N	0.375823	T	0.39091	0.1065	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12066	-1.0562	9	0.35671	T	0.21	0.3461	6.3916	0.21589	0.203:0.2025:0.5945:0.0	.	13	P36542	ATPG_HUMAN	C	13	.	ENSP00000338568:W13C	W	+	3	0	ATP5C1	7870215	0.542000	0.26426	0.996000	0.52242	0.007000	0.05969	0.245000	0.18142	0.594000	0.29761	0.655000	0.94253	TGG		0.672	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	NM_005174		5	26	0	0	0	1	0	5	26				
SAMD4A	23034	broad.mit.edu	37	14	55218240	55218240	+	Silent	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:55218240G>C	ENST00000554335.1	+	6	1824	c.1161G>C	c.(1159-1161)ctG>ctC	p.L387L	SAMD4A_ENST00000357634.3_Silent_p.L386L|SAMD4A_ENST00000251091.5_Silent_p.L299L|SAMD4A_ENST00000392067.3_Silent_p.L387L			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	387	SAM.				negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						AAAATCTCCTGAAGTCTTTGG	0.358																																						ENST00000251091.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						c.(895-897)ctG>ctC		sterile alpha motif domain containing 4A							103.0	111.0	108.0					14																	55218240		2203	4300	6503	SO:0001819	synonymous_variant	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55218240G>C	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.1161G>C	14.37:g.55218240G>C						SAMD4A_ENST00000392067.3_Silent_p.L387L|SAMD4A_ENST00000554335.1_Silent_p.L387L|SAMD4A_ENST00000357634.3_Silent_p.L386L	p.L299L	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN			4	1202	+			387					A8MPZ5|Q0VA96|Q6PEW4	Silent	SNP	ENST00000554335.1	37	c.897G>C	CCDS32084.2																																																																																				0.358	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		35	32	0	0	0	1	0	35	32				
ABCG4	64137	broad.mit.edu	37	11	119025031	119025031	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:119025031C>T	ENST00000449422.2	+	4	606	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	ABCG4_ENST00000531739.1_Missense_Mutation_p.R140C|ABCG4_ENST00000307417.3_Missense_Mutation_p.R140C	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	140	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GAGGACCTTCCGCAAGATGTC	0.577																																						ENST00000307417.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(418-420)Cgc>Tgc		ATP-binding cassette, sub-family G (WHITE), member 4							108.0	89.0	95.0					11																	119025031		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119025031C>T	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.418C>T	11.37:g.119025031C>T	ENSP00000406874:p.Arg140Cys					ABCG4_ENST00000449422.2_Missense_Mutation_p.R140C|ABCG4_ENST00000531739.1_Missense_Mutation_p.R140C	p.R140C	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	4	782	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	140			ABC transporter.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.418C>T	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151636	0.78001	.	.	ENSG00000172350	ENST00000307417;ENST00000524604;ENST00000449422;ENST00000531739	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	4.89	4.89	0.63831	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.103879	0.64402	D	0.000012	D	0.97729	0.9255	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.98635	1.0673	10	0.87932	D	0	-22.3413	16.9713	0.86301	0.0:1.0:0.0:0.0	.	140	Q9H172	ABCG4_HUMAN	C	140	ENSP00000304111:R140C;ENSP00000431915:R140C;ENSP00000406874:R140C;ENSP00000434318:R140C	ENSP00000304111:R140C	R	+	1	0	ABCG4	118530241	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.525000	0.53502	2.539000	0.85634	0.491000	0.48974	CGC		0.577	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		20	46	0	0	0	1	0	20	46				
TAPBPL	55080	broad.mit.edu	37	12	6566632	6566632	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:6566632C>T	ENST00000266556.7	+	4	791	c.626C>T	c.(625-627)tCc>tTc	p.S209F	TAPBPL_ENST00000544021.1_Missense_Mutation_p.S132F|TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	209	Ig-like V-type.				negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						TCCTCAGCCTCCTTGGACTGT	0.582																																						ENST00000266556.7																			0				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						c.(625-627)tCc>tTc		TAP binding protein-like							111.0	102.0	105.0					12																	6566632		2203	4300	6503	SO:0001583	missense	55080				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane		g.chr12:6566632C>T	AK001005	CCDS8546.1	12p13.31	2013-01-11						"""Immunoglobulin superfamily / C1-set domain containing"""	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.626C>T	12.37:g.6566632C>T	ENSP00000266556:p.Ser209Phe					TAPBPL_ENST00000545700.1_3'UTR|TAPBPL_ENST00000544021.1_Missense_Mutation_p.S132F	p.S209F	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN			4	791	+			209			Ig-like V-type.		Q9NWB8	Missense_Mutation	SNP	ENST00000266556.7	37	c.626C>T	CCDS8546.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875282	0.51695	.	.	ENSG00000139192	ENST00000544021;ENST00000266556	T;T	0.02737	4.18;4.18	4.62	4.62	0.57501	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.592487	0.19283	N	0.118105	T	0.09862	0.0242	M	0.66939	2.045	0.39034	D	0.960003	D	0.61080	0.989	D	0.63703	0.917	T	0.35176	-0.9799	10	0.09338	T	0.73	-15.5642	13.3383	0.60530	0.0:1.0:0.0:0.0	.	209	Q9BX59	TPSNR_HUMAN	F	132;209	ENSP00000445341:S132F;ENSP00000266556:S209F	ENSP00000266556:S209F	S	+	2	0	TAPBPL	6436893	0.993000	0.37304	0.969000	0.41365	0.849000	0.48306	3.006000	0.49529	2.302000	0.77476	0.561000	0.74099	TCC		0.582	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399263.1	NM_018009		15	50	0	0	0	1	0	15	50				
RIMS1	22999	broad.mit.edu	37	6	73016982	73016982	+	Missense_Mutation	SNP	G	G	A	rs183670898		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:73016982G>A	ENST00000521978.1	+	27	3872	c.3872G>A	c.(3871-3873)cGa>cAa	p.R1291Q	RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000491071.2_Missense_Mutation_p.R1114Q|RIMS1_ENST00000401910.3_Missense_Mutation_p.R611Q|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000538414.1_Missense_Mutation_p.R97Q|RIMS1_ENST00000348717.5_Missense_Mutation_p.R1083Q|RIMS1_ENST00000517960.1_Missense_Mutation_p.R1083Q|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000264839.7_Missense_Mutation_p.R1140Q	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1291					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GTGGAGGAGCGAACAAGACAG	0.383													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17089	0.0		0.0	False		,,,				2504	0.0					ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(3418-3420)cGa>cAa		regulating synaptic membrane exocytosis 1							72.0	68.0	69.0					6																	73016982		1887	4135	6022	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:73016982G>A	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3872G>A	6.37:g.73016982G>A	ENSP00000428417:p.Arg1291Gln					RIMS1_ENST00000401910.3_Missense_Mutation_p.R611Q|RIMS1_ENST00000538414.1_Missense_Mutation_p.R97Q|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000521978.1_Missense_Mutation_p.R1291Q|RIMS1_ENST00000491071.2_Missense_Mutation_p.R1114Q|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000517960.1_Missense_Mutation_p.R1083Q|RIMS1_ENST00000348717.5_Missense_Mutation_p.R1083Q|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000522291.1_Intron	p.R1140Q			Q86UR5	RIMS1_HUMAN			23	3419	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1291					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.3419G>A	CCDS47449.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	35|35	5.427761|5.427761	0.96131|0.96131	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000522211|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000264839;ENST00000517960;ENST00000521978;ENST00000401910;ENST00000453976;ENST00000370420;ENST00000538414	.|T;T;T;T;T;T;T;T;T	.|0.24538	.|2.23;2.41;2.37;2.41;2.29;2.43;2.2;1.97;1.85	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.53938	.|D	.|0.000047	T|T	0.40372|0.40372	0.1114|0.1114	L|L	0.61218|0.61218	1.895|1.895	0.51482|0.51482	D|D	0.999928|0.999928	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;0.998;1.0;0.994;1.0;0.999;0.998	.|P;P;D;D;D;D;D	.|0.72625	.|0.903;0.791;0.946;0.921;0.929;0.978;0.945	T|T	0.02526|0.02526	-1.1146|-1.1146	5|10	.|0.26408	.|T	.|0.33	-13.1102|-13.1102	19.7128|19.7128	0.96102|0.96102	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|97;1140;611;1083;367;1114;1291	.|B7Z7W2;E9PHR1;E9PF48;E7ENC2;Q5JY21;C9JNW6;Q86UR5	.|.;.;.;.;.;.;RIMS1_HUMAN	K|Q	209|1114;1140;1114;1083;1140;1083;1291;611;456;339;97	.|ENSP00000430101:R1114Q;ENSP00000275037:R1083Q;ENSP00000264839:R1140Q;ENSP00000429959:R1083Q;ENSP00000428417:R1291Q;ENSP00000385649:R611Q;ENSP00000389503:R456Q;ENSP00000359448:R339Q;ENSP00000439730:R97Q	.|ENSP00000264839:R1140Q	E|R	+|+	1|2	0|0	RIMS1|RIMS1	73073703|73073703	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.204000|7.204000	0.77872|0.77872	2.658000|2.658000	0.90341|0.90341	0.650000|0.650000	0.86243|0.86243	GAA|CGA		0.383	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			3	7	0	0	0	1	0	3	7				
ZNF573	126231	broad.mit.edu	37	19	38230496	38230496	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:38230496C>T	ENST00000590414.2	-	4	916	c.895G>A	c.(895-897)Gag>Aag	p.E299K	ZNF573_ENST00000357309.3_Missense_Mutation_p.E211K|ZNF573_ENST00000536220.1_Missense_Mutation_p.E211K|ZNF573_ENST00000392138.1_Missense_Mutation_p.E212K|ZNF573_ENST00000339503.4_Missense_Mutation_p.E241K			Q86YE8	ZN573_HUMAN	zinc finger protein 573	299					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TATGGCTTCTCATCAGTATGA	0.408																																						ENST00000339503.4																			0				NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(721-723)Gag>Aag		zinc finger protein 573							92.0	89.0	90.0					19																	38230496		2203	4300	6503	SO:0001583	missense	126231				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38230496C>T	AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.895G>A	19.37:g.38230496C>T	ENSP00000465020:p.Glu299Lys					ZNF573_ENST00000392138.1_Missense_Mutation_p.E212K|ZNF573_ENST00000536220.1_Missense_Mutation_p.E211K|ZNF573_ENST00000590414.2_Missense_Mutation_p.E299K|ZNF573_ENST00000357309.3_Missense_Mutation_p.E211K	p.E241K	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)		8	1222	-			279					B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP	ENST00000590414.2	37	c.721G>A	CCDS59381.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.826983	0.50739	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	2.33	1.27	0.21489	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24353	0.0590	L	0.57130	1.785	0.25920	N	0.983128	B;B;B;B	0.20261	0.013;0.043;0.026;0.043	B;B;B;B	0.17098	0.012;0.017;0.008;0.017	T	0.23976	-1.0173	9	0.62326	D	0.03	.	7.5498	0.27790	0.0:0.8581:0.0:0.1419	.	212;241;279;211	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	K	212;211;211;241;211	ENSP00000375983:E212K;ENSP00000440464:E211K;ENSP00000349861:E211K;ENSP00000340171:E241K	ENSP00000340171:E241K	E	-	1	0	ZNF573	42922336	0.951000	0.32395	0.530000	0.27963	0.941000	0.58515	2.817000	0.48034	0.192000	0.20272	0.585000	0.79938	GAG		0.408	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360		16	63	0	0	0	1	0	16	63				
CAPN12	147968	broad.mit.edu	37	19	39224390	39224390	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:39224390G>C	ENST00000328867.4	-	18	2218	c.1910C>G	c.(1909-1911)tCt>tGt	p.S637C	CAPN12_ENST00000601953.1_Missense_Mutation_p.S488C	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	637	Domain IV.|EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CATGGTTCCAGAGGTGTCCTC	0.597																																						ENST00000328867.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1909-1911)tCt>tGt		calpain 12							174.0	132.0	146.0					19																	39224390		2202	4299	6501	SO:0001583	missense	147968				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:39224390G>C	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.1910C>G	19.37:g.39224390G>C	ENSP00000331636:p.Ser637Cys					CAPN12_ENST00000601953.1_Missense_Mutation_p.S488C	p.S637C	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		18	2218	-	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		637			Domain IV.|EF-hand.			Missense_Mutation	SNP	ENST00000328867.4	37	c.1910C>G	CCDS12519.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817666	0.50633	.	.	ENSG00000182472	ENST00000328867	T	0.37411	1.2	3.94	3.94	0.45596	EF-hand-like domain (1);	0.065293	0.64402	D	0.000006	T	0.71736	0.3375	H	0.97732	4.065	0.52501	D	0.99995	D	0.89917	1.0	D	0.79784	0.993	T	0.82548	-0.0402	10	0.87932	D	0	.	13.4975	0.61434	0.0:0.0:1.0:0.0	.	637	Q6ZSI9	CAN12_HUMAN	C	637	ENSP00000331636:S637C	ENSP00000331636:S637C	S	-	2	0	CAPN12	43916230	1.000000	0.71417	0.629000	0.29254	0.174000	0.22865	6.306000	0.72810	2.035000	0.60131	0.313000	0.20887	TCT		0.597	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			8	35	0	0	0	1	0	8	35				
PHF1	5252	broad.mit.edu	37	6	33380521	33380521	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:33380521G>C	ENST00000374516.3	+	4	559	c.288G>C	c.(286-288)gaG>gaC	p.E96D	PHF1_ENST00000374512.3_Missense_Mutation_p.E96D|PHF1_ENST00000459809.1_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	96					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GTCGCTCTGAGACTGTGGTCC	0.582																																						ENST00000374516.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(286-288)gaG>gaC		PHD finger protein 1							188.0	167.0	174.0					6																	33380521		2203	4300	6503	SO:0001583	missense	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33380521G>C	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.288G>C	6.37:g.33380521G>C	ENSP00000363640:p.Glu96Asp					PHF1_ENST00000374512.3_Missense_Mutation_p.E96D|PHF1_ENST00000459809.1_3'UTR	p.E96D	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN			4	559	+		Ovarian(999;0.0443)	96					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Missense_Mutation	SNP	ENST00000374516.3	37	c.288G>C	CCDS4777.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669322	0.47677	.	.	ENSG00000112511	ENST00000427004;ENST00000428274;ENST00000374512;ENST00000374516	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	5.03	3.24	0.37175	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.195579	0.34959	N	0.003551	T	0.71986	0.3405	L	0.31578	0.945	0.29711	N	0.839384	B;P	0.42757	0.151;0.789	B;P	0.46208	0.236;0.507	T	0.66031	-0.6024	10	0.41790	T	0.15	-11.6534	8.5874	0.33666	0.0852:0.154:0.7608:0.0	.	96;96	O43189-2;O43189	.;PHF1_HUMAN	D	96	ENSP00000410494:E96D;ENSP00000392697:E96D;ENSP00000363636:E96D;ENSP00000363640:E96D	ENSP00000363636:E96D	E	+	3	2	PHF1	33488499	0.985000	0.35326	1.000000	0.80357	0.992000	0.81027	1.548000	0.36201	0.708000	0.31955	-0.165000	0.13383	GAG		0.582	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			13	60	0	0	0	1	0	13	60				
FAM198B	51313	broad.mit.edu	37	4	159092224	159092224	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:159092224G>C	ENST00000296530.8	-	2	925	c.304C>G	c.(304-306)Ctg>Gtg	p.L102V	FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000505532.1_RNA|FAM198B_ENST00000585682.1_Missense_Mutation_p.L102V|RP11-597D13.9_ENST00000509463.1_RNA|RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000393807.5_Missense_Mutation_p.L102V|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000592057.1_Missense_Mutation_p.L102V	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	102						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TTGGGCTGCAGAGTGGACCCA	0.622																																						ENST00000296530.8																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						c.(304-306)Ctg>Gtg		family with sequence similarity 198, member B							74.0	74.0	74.0					4																	159092224		2203	4300	6503	SO:0001583	missense	51313					Golgi membrane|integral to membrane		g.chr4:159092224G>C		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.304C>G	4.37:g.159092224G>C	ENSP00000296530:p.Leu102Val					FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000393807.5_Missense_Mutation_p.L102V|FAM198B_ENST00000585682.1_Missense_Mutation_p.L102V|FAM198B_ENST00000592057.1_Missense_Mutation_p.L102V	p.L102V	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN			2	925	-			102					Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	ENST00000296530.8	37	c.304C>G	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	G	8.667	0.901879	0.17760	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	T;T	0.32023	1.48;1.47	5.07	1.37	0.22104	.	0.309294	0.27345	N	0.019791	T	0.20577	0.0495	L	0.31664	0.95	0.19945	N	0.999942	P;B;B	0.39759	0.687;0.11;0.11	B;B;B	0.42555	0.391;0.038;0.038	T	0.15464	-1.0436	10	0.19590	T	0.45	-1.1393	6.9873	0.24735	0.2676:0.1633:0.569:0.0	.	102;102;102	Q6UWH4-3;Q6UWH4-2;Q6UWH4	.;.;F198B_HUMAN	V	102	ENSP00000296530:L102V;ENSP00000377396:L102V	ENSP00000296530:L102V	L	-	1	2	FAM198B	159311674	0.583000	0.26757	0.071000	0.20095	0.637000	0.38172	0.987000	0.29603	0.043000	0.15746	0.655000	0.94253	CTG		0.622	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		17	70	0	0	0	1	0	17	70				
SEMA6D	80031	broad.mit.edu	37	15	48058088	48058088	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:48058088G>C	ENST00000316364.5	+	14	1889	c.1450G>C	c.(1450-1452)Gac>Cac	p.D484H	SEMA6D_ENST00000389433.2_Missense_Mutation_p.D484H|SEMA6D_ENST00000389432.2_Missense_Mutation_p.D484H|SEMA6D_ENST00000354744.4_Missense_Mutation_p.D484H|SEMA6D_ENST00000355997.3_Missense_Mutation_p.D484H|SEMA6D_ENST00000358066.4_Missense_Mutation_p.D484H|SEMA6D_ENST00000536845.2_Missense_Mutation_p.D484H|SEMA6D_ENST00000537942.1_Missense_Mutation_p.D484H|SEMA6D_ENST00000389428.3_Missense_Mutation_p.D484H|SEMA6D_ENST00000558816.1_Missense_Mutation_p.D484H|SEMA6D_ENST00000558014.1_Missense_Mutation_p.D484H	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	484	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GAATGAGGAAGACAAAAAGGT	0.443																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(1450-1452)Gac>Cac		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							191.0	165.0	174.0					15																	48058088		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48058088G>C	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1450G>C	15.37:g.48058088G>C	ENSP00000324857:p.Asp484His					SEMA6D_ENST00000558014.1_Missense_Mutation_p.D484H|SEMA6D_ENST00000354744.4_Missense_Mutation_p.D484H|SEMA6D_ENST00000537942.1_Missense_Mutation_p.D484H|SEMA6D_ENST00000389433.2_Missense_Mutation_p.D484H|SEMA6D_ENST00000558816.1_Missense_Mutation_p.D484H|SEMA6D_ENST00000358066.4_Missense_Mutation_p.D484H|SEMA6D_ENST00000389428.3_Missense_Mutation_p.D484H|SEMA6D_ENST00000389432.2_Missense_Mutation_p.D484H|SEMA6D_ENST00000536845.2_Missense_Mutation_p.D484H|SEMA6D_ENST00000355997.3_Missense_Mutation_p.D484H	p.D484H	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	14	1889	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	484			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.1450G>C	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186222	0.78789	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997	T;T;T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91	5.68	5.68	0.88126	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (3);	0.126493	0.64402	D	0.000001	T	0.53433	0.1796	M	0.72353	2.195	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.998;0.998;0.983;0.992	T	0.50575	-0.8812	10	0.52906	T	0.07	.	19.7877	0.96445	0.0:0.0:1.0:0.0	.	484;484;484;484;484	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	H	484	ENSP00000442040:D484H;ENSP00000446152:D484H;ENSP00000324857:D484H;ENSP00000374084:D484H;ENSP00000374083:D484H;ENSP00000346786:D484H;ENSP00000350770:D484H;ENSP00000374079:D484H;ENSP00000348276:D484H	ENSP00000324857:D484H	D	+	1	0	SEMA6D	45845380	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.680000	0.91292	0.650000	0.86243	GAC		0.443	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		15	25	0	0	0	1	0	15	25				
FGD5	152273	broad.mit.edu	37	3	14862606	14862606	+	Silent	SNP	T	T	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:14862606T>C	ENST00000285046.5	+	1	2138	c.2028T>C	c.(2026-2028)tcT>tcC	p.S676S	FGD5_ENST00000543601.1_Silent_p.S435S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	676					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGAACGTGTCTTCCTCTAGGT	0.502																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(2026-2028)tcT>tcC		FYVE, RhoGEF and PH domain containing 5							73.0	72.0	73.0					3																	14862606		1968	4163	6131	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862606T>C	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2028T>C	3.37:g.14862606T>C						FGD5_ENST00000543601.1_Silent_p.S435S	p.S676S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			1	2138	+			676					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.2028T>C	CCDS46767.1																																																																																				0.502	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		9	32	0	0	0	1	0	9	32				
BPIFA1	51297	broad.mit.edu	37	20	31828126	31828126	+	Missense_Mutation	SNP	G	G	T	rs377508040		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr20:31828126G>T	ENST00000354297.4	+	5	587	c.516G>T	c.(514-516)agG>agT	p.R172S	BPIFA1_ENST00000375413.4_Missense_Mutation_p.R172S|BPIFA1_ENST00000375422.2_Missense_Mutation_p.R172S	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	172					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										AGCAGGAGAGGATCCACCTGG	0.552																																						ENST00000354297.4																			0											c.(514-516)agG>agT		BPI fold containing family A, member 1							207.0	197.0	200.0					20																	31828126		2203	4300	6503	SO:0001583	missense	51297				innate immune response	extracellular region	lipid binding	g.chr20:31828126G>T	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.516G>T	20.37:g.31828126G>T	ENSP00000346251:p.Arg172Ser					BPIFA1_ENST00000375413.4_Missense_Mutation_p.R172S|BPIFA1_ENST00000375422.2_Missense_Mutation_p.R172S	p.R172S	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN			5	587	+			172					A8K9R3|E1P5M9|Q9NZT0	Missense_Mutation	SNP	ENST00000354297.4	37	c.516G>T	CCDS13217.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886705	0.33348	.	.	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	T;T;T	0.04275	3.66;3.66;3.66	4.86	-7.28	0.01456	.	1.480580	0.03476	N	0.214458	T	0.03011	0.0089	L	0.47716	1.5	0.09310	N	1	P	0.43231	0.801	B	0.34931	0.192	T	0.45963	-0.9225	10	0.19147	T	0.46	0.2311	0.0239	0.00004	0.2935:0.2114:0.1829:0.3122	.	172	Q9NP55	BPIA1_HUMAN	S	172;172;172;158	ENSP00000364571:R172S;ENSP00000346251:R172S;ENSP00000364562:R172S	ENSP00000346251:R172S	R	+	3	2	BPIFA1	31291787	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.890000	0.04140	-1.261000	0.02462	-0.136000	0.14681	AGG		0.552	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852		32	118	1	0	2.08457e-15	1	2.34514e-15	32	118				
PHLDB1	23187	broad.mit.edu	37	11	118498622	118498622	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:118498622C>T	ENST00000361417.2	+	7	1494	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	PHLDB1_ENST00000356063.5_Silent_p.I361I	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	361										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGGTGGCCATCAGCCTGAGTG	0.632																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(1081-1083)atC>atT		pleckstrin homology-like domain, family B, member 1							45.0	44.0	44.0					11																	118498622		2200	4295	6495	SO:0001819	synonymous_variant	23187							g.chr11:118498622C>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1083C>T	11.37:g.118498622C>T						PHLDB1_ENST00000356063.5_Silent_p.I361I	p.I361I	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	1494	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	361					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	c.1083C>T	CCDS8401.1																																																																																				0.632	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		14	34	0	0	0	1	0	14	34				
NBEAL1	65065	broad.mit.edu	37	2	204058534	204058534	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:204058534G>C	ENST00000449802.1	+	46	7184	c.6851G>C	c.(6850-6852)aGa>aCa	p.R2284T		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2284	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.									NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CACCCTCCAAGATTATCAGCA	0.363																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(6850-6852)aGa>aCa		neurobeachin-like 1							140.0	137.0	138.0					2																	204058534		1863	4099	5962	SO:0001583	missense	65065						binding	g.chr2:204058534G>C	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6851G>C	2.37:g.204058534G>C	ENSP00000399903:p.Arg2284Thr						p.R2284T	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			46	7184	+			2284			BEACH.		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.6851G>C	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.729300	0.89390	.	.	ENSG00000144426	ENST00000449802;ENST00000414576	D;D	0.85339	-1.97;-1.97	5.43	5.43	0.79202	BEACH domain (4);	0.000000	0.64402	U	0.000002	D	0.95822	0.8640	H	0.98682	4.3	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.97523	1.0074	10	0.87932	D	0	.	18.8378	0.92169	0.0:0.0:1.0:0.0	.	2284	Q6ZS30	NBEL1_HUMAN	T	2284;299	ENSP00000399903:R2284T;ENSP00000388466:R299T	ENSP00000388466:R299T	R	+	2	0	NBEAL1	203766779	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.028000	0.93712	2.550000	0.86006	0.650000	0.86243	AGA		0.363	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			6	28	0	0	0	1	0	6	28				
IL6ST	3572	broad.mit.edu	37	5	55237392	55237392	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:55237392A>G	ENST00000381298.2	-	17	2587	c.2275T>C	c.(2275-2277)Tat>Cat	p.Y759H	IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000502326.3_Missense_Mutation_p.Y759H|CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000336909.5_Missense_Mutation_p.Y759H|IL6ST_ENST00000381294.3_Missense_Mutation_p.Y698H|IL6ST_ENST00000536319.1_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	759					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ACGGTAGAATACTGGACAGTG	0.478			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(2275-2277)Tat>Cat		interleukin 6 signal transducer (gp130, oncostatin M receptor)							154.0	153.0	153.0					5																	55237392		2203	4300	6503	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55237392A>G	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.2275T>C	5.37:g.55237392A>G	ENSP00000370698:p.Tyr759His					IL6ST_ENST00000381294.3_Missense_Mutation_p.Y698H|IL6ST_ENST00000502326.3_Missense_Mutation_p.Y759H|IL6ST_ENST00000381287.4_3'UTR|CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000336909.5_Missense_Mutation_p.Y759H	p.Y759H	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			17	2587	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	759					A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.2275T>C	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.360106	0.82353	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.69040	0.0;0.0;-0.37	5.4	5.4	0.78164	.	0.156544	0.30277	N	0.010000	T	0.75213	0.3819	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.77854	-0.2433	10	0.72032	D	0.01	.	15.7345	0.77831	1.0:0.0:0.0:0.0	.	759;698;759	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	H	759;759;698	ENSP00000370698:Y759H;ENSP00000338799:Y759H;ENSP00000370694:Y698H	ENSP00000338799:Y759H	Y	-	1	0	IL6ST	55273149	1.000000	0.71417	0.996000	0.52242	0.880000	0.50808	8.487000	0.90454	2.170000	0.68504	0.455000	0.32223	TAT		0.478	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		19	53	0	0	0	1	0	19	53				
LANCL3	347404	broad.mit.edu	37	X	37526544	37526544	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:37526544A>G	ENST00000378619.3	+	4	1124	c.905A>G	c.(904-906)tAt>tGt	p.Y302C	TM4SF2_ENST00000465127.1_Intron|LANCL3_ENST00000378621.3_Missense_Mutation_p.Y302C	NM_001170331.1	NP_001163802.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	302							catalytic activity (GO:0003824)			lung(4)|pancreas(1)	5						GGAATTGCCTATCTGTTTGCC	0.423																																						ENST00000378621.3																			0				lung(4)|pancreas(1)	5						c.(904-906)tAt>tGt		LanC lantibiotic synthetase component C-like 3 (bacterial)							70.0	66.0	68.0					X																	37526544		2202	4300	6502	SO:0001583	missense	347404						catalytic activity	g.chrX:37526544A>G	AK124915	CCDS14240.1, CCDS55398.1	Xp21.1	2008-02-05			ENSG00000147036	ENSG00000147036			24767	protein-coding gene	gene with protein product							Standard	NM_198511		Approved	FLJ42925	uc011mkd.2	Q6ZV70	OTTHUMG00000033177	ENST00000378619.3:c.905A>G	X.37:g.37526544A>G	ENSP00000367882:p.Tyr302Cys					LANCL3_ENST00000378619.3_Missense_Mutation_p.Y302C|TM4SF2_ENST00000465127.1_Intron	p.Y302C	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN			4	1207	+			302					A6NHE3	Missense_Mutation	SNP	ENST00000378619.3	37	c.905A>G	CCDS55398.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.412252	0.42817	.	.	ENSG00000147036	ENST00000378621;ENST00000378619	T;T	0.46819	0.86;0.86	5.25	5.25	0.73442	Six-hairpin glycosidase-like (1);	0.070654	0.64402	D	0.000019	T	0.70885	0.3275	M	0.86097	2.795	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.983	T	0.74763	-0.3555	10	0.48119	T	0.1	-7.194	14.2584	0.66067	1.0:0.0:0.0:0.0	.	302;302	Q6ZV70;Q6ZV70-2	LANC3_HUMAN;.	C	302	ENSP00000367885:Y302C;ENSP00000367882:Y302C	ENSP00000367882:Y302C	Y	+	2	0	LANCL3	37411463	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	5.638000	0.67861	1.745000	0.51790	0.486000	0.48141	TAT		0.423	LANCL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080885.1	NM_198511		12	12	0	0	0	1	0	12	12				
ABCB8	11194	broad.mit.edu	37	7	150730891	150730891	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:150730891G>T	ENST00000297504.6	+	3	412	c.346G>T	c.(346-348)Gaa>Taa	p.E116*	ABCB8_ENST00000477092.1_Nonsense_Mutation_p.E99*|ABCB8_ENST00000358849.4_Nonsense_Mutation_p.E99*|ABCB8_ENST00000493338.1_3'UTR|ABCB8_ENST00000477719.1_Nonsense_Mutation_p.E99*|ABCB8_ENST00000498578.1_Nonsense_Mutation_p.E99*|ABCB8_ENST00000356058.4_Nonsense_Mutation_p.E136*|ABCB8_ENST00000542328.1_Intron			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	116					transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	GTGTGAGGCAGAAGAGGCCCC	0.632																																						ENST00000358849.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(295-297)Gaa>Taa		ATP-binding cassette, sub-family B (MDR/TAP), member 8							69.0	60.0	63.0					7																	150730891		2203	4300	6503	SO:0001587	stop_gained	11194					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr7:150730891G>T	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.346G>T	7.37:g.150730891G>T	ENSP00000297504:p.Glu116*					ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000498578.1_Nonsense_Mutation_p.E99*|ABCB8_ENST00000356058.4_Nonsense_Mutation_p.E136*|ABCB8_ENST00000477719.1_Nonsense_Mutation_p.E99*|ABCB8_ENST00000297504.6_Nonsense_Mutation_p.E116*|ABCB8_ENST00000493338.1_3'UTR|ABCB8_ENST00000477092.1_Nonsense_Mutation_p.E99*	p.E99*	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	388	+			116					A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Nonsense_Mutation	SNP	ENST00000297504.6	37	c.295G>T		.	.	.	.	.	.	.	.	.	.	G	18.23	3.579002	0.65878	.	.	ENSG00000197150	ENST00000461373;ENST00000358849;ENST00000360651;ENST00000297504;ENST00000498578;ENST00000356058;ENST00000477719;ENST00000477092	.	.	.	4.07	2.16	0.27623	.	0.353873	0.31949	N	0.006802	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-14.8293	6.4352	0.21819	0.1092:0.1877:0.7031:0.0	.	.	.	.	X	136;99;82;116;99;136;99;99	.	ENSP00000297504:E116X	E	+	1	0	ABCB8	150361824	0.988000	0.35896	0.988000	0.46212	0.742000	0.42306	1.491000	0.35583	0.433000	0.26313	0.561000	0.74099	GAA		0.632	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188		13	49	1	0	2.31682e-05	1	2.47576e-05	13	49				
KCNK9	51305	broad.mit.edu	37	8	140631260	140631260	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr8:140631260C>T	ENST00000520439.1	-	2	429	c.366G>A	c.(364-366)ctG>ctA	p.L122L	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Silent_p.L122L	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	122					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	GGAACATGACCAGTGTCAGCG	0.597																																						ENST00000520439.1																			0				NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43						c.(364-366)ctG>ctA		potassium channel, subfamily K, member 9							82.0	67.0	72.0					8																	140631260		2203	4300	6503	SO:0001819	synonymous_variant	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140631260C>T	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.366G>A	8.37:g.140631260C>T						KCNK9_ENST00000303015.1_Silent_p.L122L	p.L122L			Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	429	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	122					Q2M290|Q540F2	Silent	SNP	ENST00000520439.1	37	c.366G>A	CCDS6377.1																																																																																				0.597	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		5	33	0	0	0	1	0	5	33				
KCNAB1	7881	broad.mit.edu	37	3	156241659	156241659	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:156241659G>A	ENST00000490337.1	+	12	1068	c.1004G>A	c.(1003-1005)aGa>aAa	p.R335K	KCNAB1_ENST00000389634.5_Missense_Mutation_p.R288K|KCNAB1_ENST00000389636.5_Missense_Mutation_p.R306K|RP11-305K5.1_ENST00000609190.1_RNA|KCNAB1_ENST00000302490.8_Missense_Mutation_p.R317K|KCNAB1_ENST00000471742.1_Missense_Mutation_p.R324K|KCNAB1_ENST00000497291.1_3'UTR	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	335					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GAAGAAGGGAGAAAACAGCAA	0.408																																						ENST00000302490.8																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(949-951)aGa>aAa		potassium voltage-gated channel, shaker-related subfamily, beta member 1							135.0	135.0	135.0					3																	156241659		2203	4300	6503	SO:0001583	missense	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:156241659G>A	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.1004G>A	3.37:g.156241659G>A	ENSP00000419952:p.Arg335Lys					KCNAB1_ENST00000389634.5_Missense_Mutation_p.R288K|KCNAB1_ENST00000389636.5_Missense_Mutation_p.R306K|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000471742.1_Missense_Mutation_p.R324K|KCNAB1_ENST00000490337.1_Missense_Mutation_p.R335K	p.R317K	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		12	1821	+			335					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	c.950G>A	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408414	0.62399	.	.	ENSG00000169282	ENST00000490337;ENST00000389636;ENST00000471742;ENST00000302490;ENST00000389634	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.71	5.71	0.89125	NADP-dependent oxidoreductase domain (3);	0.111469	0.64402	D	0.000004	T	0.31167	0.0788	N	0.16790	0.44	0.58432	D	0.999999	B;B;B;B;B	0.16396	0.017;0.002;0.0;0.004;0.004	B;B;B;B;B	0.24006	0.05;0.015;0.007;0.012;0.02	T	0.08513	-1.0718	10	0.18276	T	0.48	-15.9191	18.6434	0.91402	0.0:0.0:1.0:0.0	.	306;288;317;324;335	B7Z8E5;F8W6W4;B3KPZ4;Q14722-3;Q14722	.;.;.;.;KCAB1_HUMAN	K	335;306;324;317;288	ENSP00000419952:R335K;ENSP00000374287:R306K;ENSP00000418956:R324K;ENSP00000305858:R317K;ENSP00000374285:R288K	ENSP00000305858:R317K	R	+	2	0	KCNAB1	157724353	1.000000	0.71417	0.974000	0.42286	0.985000	0.73830	6.130000	0.71663	2.694000	0.91930	0.603000	0.83216	AGA		0.408	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		13	38	0	0	0	1	0	13	38				
N6AMT2	221143	broad.mit.edu	37	13	21306231	21306231	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr13:21306231T>C	ENST00000382758.1	-	4	304	c.257A>G	c.(256-258)tAc>tGc	p.Y86C	N6AMT2_ENST00000382754.4_Missense_Mutation_p.Y86C			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	86						extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		GAGTTTCTGGTAAACACTAGG	0.378																																						ENST00000382758.1																			0				endometrium(1)|large_intestine(3)|lung(3)	7						c.(256-258)tAc>tGc		N-6 adenine-specific DNA methyltransferase 2 (putative)							86.0	89.0	88.0					13																	21306231		2203	4300	6503	SO:0001583	missense	221143						methyltransferase activity|nucleic acid binding	g.chr13:21306231T>C	AK055408	CCDS9293.1	13q12.11	2006-12-14			ENSG00000150456	ENSG00000150456			27351	protein-coding gene	gene with protein product						12477932	Standard	NM_174928		Approved		uc001uno.1	Q8WVE0	OTTHUMG00000016519	ENST00000382758.1:c.257A>G	13.37:g.21306231T>C	ENSP00000372206:p.Tyr86Cys					N6AMT2_ENST00000382754.4_Missense_Mutation_p.Y86C	p.Y86C			Q8WVE0	N6MT2_HUMAN		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)	4	304	-		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)	86					B5G4V1	Missense_Mutation	SNP	ENST00000382758.1	37	c.257A>G	CCDS9293.1	.	.	.	.	.	.	.	.	.	.	T	14.19	2.460514	0.43736	.	.	ENSG00000150456	ENST00000382758;ENST00000382754	T;T	0.54279	0.58;0.58	5.85	4.64	0.57946	.	0.057340	0.64402	D	0.000001	T	0.78923	0.4360	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83589	0.0122	10	0.87932	D	0	.	12.2996	0.54866	0.127:0.0:0.0:0.873	.	86	Q8WVE0	N6MT2_HUMAN	C	86	ENSP00000372206:Y86C;ENSP00000372202:Y86C	ENSP00000372202:Y86C	Y	-	2	0	N6AMT2	20204231	1.000000	0.71417	0.912000	0.35992	0.038000	0.13279	5.880000	0.69698	1.000000	0.39049	0.528000	0.53228	TAC		0.378	N6AMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044083.1	NM_174928		9	41	0	0	0	1	0	9	41				
BTNL9	153579	broad.mit.edu	37	5	180486626	180486626	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:180486626G>A	ENST00000327705.9	+	11	1603	c.1372G>A	c.(1372-1374)Gga>Aga	p.G458R	BTNL9_ENST00000376842.3_Missense_Mutation_p.G459R	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	458	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTACGAGGCCGGAGAGCTGTC	0.682																																						ENST00000327705.9																			0				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19						c.(1372-1374)Gga>Aga		butyrophilin-like 9							43.0	43.0	43.0					5																	180486626		2203	4300	6503	SO:0001583	missense	153579					integral to membrane		g.chr5:180486626G>A	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.1372G>A	5.37:g.180486626G>A	ENSP00000330200:p.Gly458Arg					BTNL9_ENST00000376842.3_Missense_Mutation_p.G459R	p.G458R	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1603	+	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	458			B30.2/SPRY.		A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	ENST00000327705.9	37	c.1372G>A	CCDS4460.2	.	.	.	.	.	.	.	.	.	.	g	14.74	2.627089	0.46840	.	.	ENSG00000165810	ENST00000327705;ENST00000376842	T;T	0.71341	-0.56;-0.56	4.43	3.53	0.40419	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.34484	U	0.003938	T	0.82235	0.4993	M	0.79011	2.435	0.26416	N	0.976184	D	0.69078	0.997	D	0.78314	0.991	T	0.74515	-0.3640	10	0.62326	D	0.03	.	11.6643	0.51364	0.0:0.0:0.8212:0.1788	.	458	Q6UXG8	BTNL9_HUMAN	R	458;459	ENSP00000330200:G458R;ENSP00000366038:G459R	ENSP00000330200:G458R	G	+	1	0	BTNL9	180419232	1.000000	0.71417	0.004000	0.12327	0.001000	0.01503	5.262000	0.65501	0.968000	0.38212	0.449000	0.29647	GGA		0.682	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		10	37	0	0	0	1	0	10	37				
PTPN21	11099	broad.mit.edu	37	14	88963635	88963635	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:88963635C>T	ENST00000556564.1	-	9	1049		c.e9-1		PTPN21_ENST00000328736.3_Splice_Site|PTPN21_ENST00000554628.1_Splice_Site|RP11-507K2.2_ENST00000555444.1_RNA	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTCATGCCACCTAAAGAACAG	0.418																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.e9-1		protein tyrosine phosphatase, non-receptor type 21							100.0	91.0	94.0					14																	88963635		2203	4300	6503	SO:0001630	splice_region_variant	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88963635C>T	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.765-1G>A	14.37:g.88963635C>T						PTPN21_ENST00000328736.3_Splice_Site|PTPN21_ENST00000554628.1_Splice_Site		NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			9	1049	-									Splice_Site	SNP	ENST00000556564.1	37		CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978033	0.74360	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5471	0.91052	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPN21	88033388	1.000000	0.71417	0.999000	0.59377	0.822000	0.46500	6.781000	0.75068	2.547000	0.85894	0.558000	0.71614	.		0.418	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1		Intron	17	24	0	0	0	1	0	17	24				
KCNH4	23415	broad.mit.edu	37	17	40312144	40312144	+	Missense_Mutation	SNP	C	C	G	rs368768991		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:40312144C>G	ENST00000264661.3	-	16	3300	c.2968G>C	c.(2968-2970)Gga>Cga	p.G990R	KCNH4_ENST00000607371.1_Missense_Mutation_p.G990R	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	990					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGAGAGGGTCCCAGAGGGTCA	0.632																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(2968-2970)Gga>Cga		potassium voltage-gated channel, subfamily H (eag-related), member 4		C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	47.0	48.0	48.0		2968	1.0	0.2	17		48	0,8600		0,0,4300	no	missense	KCNH4	NM_012285.2	125	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	990/1018	40312144	1,13005	2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40312144C>G	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.2968G>C	17.37:g.40312144C>G	ENSP00000264661:p.Gly990Arg					KCNH4_ENST00000607371.1_Missense_Mutation_p.G990R	p.G990R	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	16	3300	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	990						Missense_Mutation	SNP	ENST00000264661.3	37	c.2968G>C	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	C	5.658	0.305958	0.10733	2.27E-4	0.0	ENSG00000089558	ENST00000264661	D	0.98684	-5.07	5.16	0.966	0.19667	.	0.381265	0.19124	N	0.122081	D	0.93038	0.7784	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	D	0.86425	0.1757	10	0.19590	T	0.45	.	7.1208	0.25444	0.0:0.6357:0.0:0.3643	.	990	Q9UQ05	KCNH4_HUMAN	R	990	ENSP00000264661:G990R	ENSP00000264661:G990R	G	-	1	0	KCNH4	37565670	0.000000	0.05858	0.182000	0.23118	0.217000	0.24651	0.062000	0.14389	0.075000	0.16796	0.561000	0.74099	GGA		0.632	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		18	39	0	0	0	1	0	18	39				
TSC2	7249	broad.mit.edu	37	16	2111962	2111962	+	Nonsense_Mutation	SNP	C	C	T	rs45457701		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:2111962C>T	ENST00000219476.3	+	12	1840	c.1210C>T	c.(1210-1212)Cag>Tag	p.Q404*	TSC2_ENST00000401874.2_Nonsense_Mutation_p.Q404*|TSC2_ENST00000439673.2_Nonsense_Mutation_p.Q367*|TSC2_ENST00000353929.4_Nonsense_Mutation_p.Q404*|TSC2_ENST00000350773.4_Nonsense_Mutation_p.Q404*|TSC2_ENST00000568454.1_Nonsense_Mutation_p.Q415*|TSC2_ENST00000382538.6_Nonsense_Mutation_p.Q355*	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	404					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCACGGGTCTCAGGAGAGATA	0.617			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56	GRCh37	CM090991	TSC2	M	rs45457701	c.(1210-1212)Cag>Tag		tuberous sclerosis 2							111.0	97.0	102.0					16																	2111962		2198	4300	6498	SO:0001587	stop_gained	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2111962C>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1210C>T	16.37:g.2111962C>T	ENSP00000219476:p.Gln404*					TSC2_ENST00000401874.2_Nonsense_Mutation_p.Q404*|TSC2_ENST00000353929.4_Nonsense_Mutation_p.Q404*|TSC2_ENST00000350773.4_Nonsense_Mutation_p.Q404*|TSC2_ENST00000382538.6_Nonsense_Mutation_p.Q355*|TSC2_ENST00000568454.1_Nonsense_Mutation_p.Q415*|TSC2_ENST00000439673.2_Nonsense_Mutation_p.Q367*	p.Q404*	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			12	1840	+		Hepatocellular(780;0.0202)	404					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Nonsense_Mutation	SNP	ENST00000219476.3	37	c.1210C>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	.	36	5.867077	0.97043	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	.	.	.	5.13	4.15	0.48705	.	0.367902	0.30556	N	0.009372	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-15.5132	14.0197	0.64545	0.0:0.7066:0.2934:0.0	rs45457701	.	.	.	X	404;404;404;367;355;404	.	ENSP00000219476:Q404X	Q	+	1	0	TSC2	2051963	0.747000	0.28283	0.912000	0.35992	0.735000	0.41995	1.350000	0.34010	2.394000	0.81467	0.561000	0.74099	CAG		0.617	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		13	44	0	0	0	1	0	13	44				
TTN	7273	broad.mit.edu	37	2	179566974	179566974	+	Splice_Site	SNP	T	T	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:179566974T>A	ENST00000591111.1	-	106	29707		c.e106-2		TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Splice_Site|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTAGACACCTAGGGTGAAAA	0.418																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.e108-2		titin							77.0	77.0	77.0					2																	179566974		1909	4116	6025	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179566974T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.29483-2A>T	2.37:g.179566974T>A						TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA		NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		108	30658	-								A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Splice_Site	SNP	ENST00000591111.1	37			.	.	.	.	.	.	.	.	.	.	T	13.77	2.336624	0.41398	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9965	0.80250	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179275219	1.000000	0.71417	0.996000	0.52242	0.191000	0.23601	7.581000	0.82535	2.174000	0.68829	0.460000	0.39030	.		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	6	19	0	0	0	1	0	6	19				
DHX32	55760	broad.mit.edu	37	10	127569387	127569387	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:127569387C>T	ENST00000284690.3	-	1	497	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	DHX32_ENST00000284688.6_Missense_Mutation_p.E3K	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	3						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGCCCTTCTTCTTCCATCTTG	0.463																																						ENST00000284690.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29						c.(7-9)Gaa>Aaa		DEAH (Asp-Glu-Ala-His) box polypeptide 32							105.0	108.0	107.0					10																	127569387		2203	4300	6503	SO:0001583	missense	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127569387C>T		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.7G>A	10.37:g.127569387C>T	ENSP00000284690:p.Glu3Lys					DHX32_ENST00000284688.6_Missense_Mutation_p.E3K	p.E3K	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN			1	497	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	3					A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	ENST00000284690.3	37	c.7G>A	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180834	0.57800	.	.	ENSG00000089876	ENST00000284690;ENST00000284688;ENST00000415732	T;T	0.04119	3.99;3.7	4.21	3.3	0.37823	.	0.401810	0.24422	N	0.038666	T	0.04815	0.0130	L	0.29908	0.895	0.09310	N	1	B	0.16603	0.018	B	0.14023	0.01	T	0.32348	-0.9910	10	0.87932	D	0	-3.9328	11.9808	0.53119	0.0:0.9158:0.0:0.0842	.	3	Q7L7V1	DHX32_HUMAN	K	3	ENSP00000284690:E3K;ENSP00000284688:E3K	ENSP00000284688:E3K	E	-	1	0	DHX32	127559377	0.035000	0.19736	0.024000	0.17045	0.605000	0.37080	2.591000	0.46163	1.119000	0.41883	0.561000	0.74099	GAA		0.463	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		17	44	0	0	0	1	0	17	44				
TMEM8B	51754	broad.mit.edu	37	9	35842634	35842634	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:35842634C>T	ENST00000377991.4	+	7	1214	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	TMEM8B_ENST00000439587.2_Missense_Mutation_p.R67C|TMEM8B_ENST00000377996.1_Missense_Mutation_p.R67C|TMEM8B_ENST00000473947.1_Intron|TMEM8B_ENST00000377988.2_Missense_Mutation_p.R67C	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	67					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						TCCCCCTGAGCGCCCAGCCGT	0.612																																						ENST00000377988.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						c.(199-201)Cgc>Tgc		transmembrane protein 8B							77.0	57.0	63.0					9																	35842634		2203	4300	6503	SO:0001583	missense	51754				cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding	g.chr9:35842634C>T	BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma expressed 6"""		"""chromosome 9 open reading frame 127"""	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.199C>T	9.37:g.35842634C>T	ENSP00000367230:p.Arg67Cys					TMEM8B_ENST00000377996.1_Missense_Mutation_p.R67C|TMEM8B_ENST00000473947.1_Intron|TMEM8B_ENST00000439587.2_Missense_Mutation_p.R67C|TMEM8B_ENST00000377991.4_Missense_Mutation_p.R67C	p.R67C	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN			6	1487	+			67					B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Missense_Mutation	SNP	ENST00000377991.4	37	c.199C>T	CCDS43800.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655666	0.67586	.	.	ENSG00000137103	ENST00000377996;ENST00000439587;ENST00000377991;ENST00000377988	T;T;T;T	0.47528	0.84;0.84;0.85;0.85	5.4	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.60090	0.2242	L	0.44542	1.39	0.53005	D	0.99996	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.972	T	0.61811	-0.6986	10	0.52906	T	0.07	-13.8153	14.5608	0.68133	0.1477:0.8523:0.0:0.0	.	67;431	A6NDV4;Q5TCW0	TMM8B_HUMAN;.	C	67	ENSP00000367235:R67C;ENSP00000395810:R67C;ENSP00000367230:R67C;ENSP00000367227:R67C	ENSP00000367227:R67C	R	+	1	0	TMEM8B	35832634	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.308000	0.43690	1.398000	0.46701	0.655000	0.94253	CGC		0.612	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052388.2	NM_016446		12	27	0	0	0	1	0	12	27				
ABCB1	5243	broad.mit.edu	37	7	87180046	87180046	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:87180046C>G	ENST00000265724.3	-	11	1525	c.1108G>C	c.(1108-1110)Gat>Cat	p.D370H	ABCB1_ENST00000543898.1_Missense_Mutation_p.D306H	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	370					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CTTACATTATCAATTATCTTG	0.373																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(1108-1110)Gat>Cat		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						123.0	117.0	119.0					7																	87180046		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87180046C>G	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1108G>C	7.37:g.87180046C>G	ENSP00000265724:p.Asp370His					ABCB1_ENST00000543898.1_Missense_Mutation_p.D306H	p.D370H	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			11	1525	-	Esophageal squamous(14;0.00164)		370					A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.1108G>C	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196301	0.78902	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.91237	-2.81;-2.81	6.17	6.17	0.99709	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.95582	0.8564	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.72075	0.976;0.947	D	0.95571	0.8638	10	0.87932	D	0	-27.719	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	306;370	B5AK60;P08183	.;MDR1_HUMAN	H	151;370;306	ENSP00000265724:D370H;ENSP00000444095:D306H	ENSP00000265724:D370H	D	-	1	0	ABCB1	87017982	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.989000	0.56958	2.941000	0.99782	0.655000	0.94253	GAT		0.373	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		4	10	0	0	0	1	0	4	10				
ERMP1	79956	broad.mit.edu	37	9	5823980	5823980	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:5823980G>A	ENST00000339450.5	-	4	879	c.790C>T	c.(790-792)Cag>Tag	p.Q264*	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Nonsense_Mutation_p.Q40*	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	264						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CAGGGGTGCTGAGTAATGAAA	0.393																																						ENST00000339450.5																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20						c.(790-792)Cag>Tag		endoplasmic reticulum metallopeptidase 1							104.0	97.0	100.0					9																	5823980		2203	4300	6503	SO:0001587	stop_gained	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5823980G>A	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.790C>T	9.37:g.5823980G>A	ENSP00000340427:p.Gln264*					ERMP1_ENST00000381506.3_Nonsense_Mutation_p.Q40*|ERMP1_ENST00000214893.5_5'UTR	p.Q264*	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	4	879	-		Acute lymphoblastic leukemia(23;0.158)	264					B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Nonsense_Mutation	SNP	ENST00000339450.5	37	c.790C>T	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	G	36	5.643577	0.96704	.	.	ENSG00000099219	ENST00000339450;ENST00000381506	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-11.4404	19.2197	0.93791	0.0:0.0:1.0:0.0	.	.	.	.	X	264;40	.	ENSP00000340427:Q264X	Q	-	1	0	ERMP1	5813980	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.432000	0.97498	2.556000	0.86216	0.591000	0.81541	CAG		0.393	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		5	33	0	0	0	1	0	5	33				
CNTNAP2	26047	broad.mit.edu	37	7	146818173	146818173	+	Missense_Mutation	SNP	G	G	A	rs375721700		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:146818173G>A	ENST00000361727.3	+	6	1373	c.857G>A	c.(856-858)cGg>cAg	p.R286Q		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	286	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGCCAGGGGCGGAGCATTAAC	0.527										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(856-858)cGg>cAg		contactin associated protein-like 2		G	GLN/ARG	0,4406		0,0,2203	168.0	132.0	144.0		857	5.8	1.0	7		144	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNTNAP2	NM_014141.5	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	286/1332	146818173	1,13005	2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146818173G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.857G>A	7.37:g.146818173G>A	ENSP00000354778:p.Arg286Gln	HNSCC(39;0.1)					p.R286Q	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		6	1373	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	286			Laminin G-like 1.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.857G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	34	5.321686	0.95682	0.0	1.16E-4	ENSG00000174469	ENST00000361727	T	0.78246	-1.16	5.82	5.82	0.92795	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.56097	D	0.000025	D	0.86310	0.5902	M	0.71206	2.165	0.80722	D	1	D	0.65815	0.995	P	0.62740	0.906	D	0.83588	0.0121	10	0.30854	T	0.27	.	18.6867	0.91567	0.0:0.0:1.0:0.0	.	286	Q9UHC6	CNTP2_HUMAN	Q	286	ENSP00000354778:R286Q	ENSP00000354778:R286Q	R	+	2	0	CNTNAP2	146449106	1.000000	0.71417	0.959000	0.39883	0.788000	0.44548	9.714000	0.98744	2.756000	0.94617	0.563000	0.77884	CGG		0.527	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			10	31	0	0	0	1	0	10	31				
ECE2	9718	broad.mit.edu	37	3	184008411	184008411	+	Silent	SNP	C	C	T	rs190933922	byFrequency	TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:184008411C>T	ENST00000402825.3	+	15	2076	c.2076C>T	c.(2074-2076)ccC>ccT	p.P692P	ECE2_ENST00000404464.3_Silent_p.P574P|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Silent_p.P545P|ECE2_ENST00000357474.5_Silent_p.P620P	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	692	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCGTCTTCCCCGCTGGCATCC	0.627													C|||	2	0.000399361	0.0	0.0	5008	,	,		16901	0.002		0.0	False		,,,				2504	0.0					ENST00000402825.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(2074-2076)ccC>ccT		endothelin converting enzyme 2							77.0	81.0	80.0					3																	184008411		2203	4300	6503	SO:0001819	synonymous_variant	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184008411C>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.2076C>T	3.37:g.184008411C>T						ECE2_ENST00000404464.3_Silent_p.P574P|ECE2_ENST00000357474.5_Silent_p.P620P|ECE2_ENST00000359140.4_Silent_p.P545P|EIF2B5_ENST00000444495.1_Intron	p.P692P	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		15	2076	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		692			Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	ENST00000402825.3	37	c.2076C>T	CCDS3256.2																																																																																				0.627	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		20	87	0	0	0	1	0	20	87				
SRCAP	10847	broad.mit.edu	37	16	30748845	30748845	+	Missense_Mutation	SNP	C	C	G	rs201185965		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:30748845C>G	ENST00000262518.4	+	34	7869	c.7484C>G	c.(7483-7485)tCt>tGt	p.S2495C	SRCAP_ENST00000344771.4_Missense_Mutation_p.S2337C|SRCAP_ENST00000395059.2_Missense_Mutation_p.S2433C	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2495	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			cctccttgttcttctcctgcc	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		18950	0.0		0.001	False		,,,				2504	0.0					ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(7483-7485)tCt>tGt		Snf2-related CREBBP activator protein							216.0	154.0	175.0					16																	30748845		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30748845C>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7484C>G	16.37:g.30748845C>G	ENSP00000262518:p.Ser2495Cys					SRCAP_ENST00000344771.4_Missense_Mutation_p.S2337C|SRCAP_ENST00000395059.2_Missense_Mutation_p.S2433C	p.S2495C	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	7869	+			2495			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.7484C>G	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	4.504	0.093414	0.08632	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91740	-2.9;-2.87;-2.88	3.48	1.42	0.22433	.	0.207581	0.24336	N	0.039410	T	0.80391	0.4614	N	0.08118	0	0.19575	N	0.999961	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.67007	-0.5779	10	0.26408	T	0.33	-0.0335	9.7542	0.40494	0.0:0.5749:0.4251:0.0	.	2433;2495	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	C	2495;2433;2337	ENSP00000262518:S2495C;ENSP00000378499:S2433C;ENSP00000343042:S2337C	ENSP00000262518:S2495C	S	+	2	0	SRCAP	30656346	0.998000	0.40836	0.994000	0.49952	0.750000	0.42670	1.133000	0.31430	0.477000	0.27464	0.121000	0.15741	TCT		0.547	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		10	20	0	0	0	1	0	10	20				
C9orf117	286207	broad.mit.edu	37	9	130474932	130474932	+	Intron	SNP	C	C	G	rs73600054	byFrequency	TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:130474932C>G	ENST00000373295.2	+	7	1177				C9orf117_ENST00000464092.1_3'UTR|C9orf117_ENST00000373293.5_Missense_Mutation_p.T10R	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117											breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						ATTTCCTGGACGAGGGTGGGT	0.572													G|||	397	0.0792732	0.2345	0.0173	5008	,	,		20926	0.0694		0.002	False		,,,				2504	0.0031					ENST00000373293.5																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(28-30)aCg>aGg		chromosome 9 open reading frame 117																																				SO:0001627	intron_variant	286207							g.chr9:130474932C>G	AK094948	CCDS43878.1	9q34.11	2012-04-02			ENSG00000160401	ENSG00000160401			27843	protein-coding gene	gene with protein product							Standard	NM_001012502		Approved		uc004brn.1	Q5JU67	OTTHUMG00000020709	ENST00000373295.2:c.1138-56C>G	9.37:g.130474932C>G						C9orf117_ENST00000464092.1_3'UTR|C9orf117_ENST00000373295.2_Intron	p.T10R			Q5JU67	CI117_HUMAN			1	764	+			0					A5D8T9	Missense_Mutation	SNP	ENST00000373295.2	37	c.29C>G	CCDS43878.1	163	0.07463369963369963	110	0.22357723577235772	9	0.024861878453038673	43	0.07517482517482517	1	0.0013192612137203166	G	0.611	-0.825032	0.02755	.	.	ENSG00000160401	ENST00000373293	.	.	.	4.79	1.69	0.24217	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.11916	-1.0568	4	0.39692	T	0.17	.	5.5743	0.17215	0.1698:0.3332:0.497:0.0	.	.	.	.	R	10	.	ENSP00000362391:T10R	T	+	2	0	C9orf117	129514753	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.906000	0.28517	0.143000	0.18926	-0.357000	0.07601	ACG		0.572	C9orf117-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054215.2	NM_001012502		3	28	0	0	0	1	0	3	28				
MYH6	4624	broad.mit.edu	37	14	23863279	23863279	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:23863279C>T	ENST00000356287.3	-	20	2712	c.2683G>A	c.(2683-2685)Gcg>Acg	p.A895T	MYH6_ENST00000405093.3_Missense_Mutation_p.A895T			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	895					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGCCTCACCGCCTGCACTTGG	0.582																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(2683-2685)Gcg>Acg		myosin, heavy chain 6, cardiac muscle, alpha							94.0	78.0	83.0					14																	23863279		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23863279C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2683G>A	14.37:g.23863279C>T	ENSP00000348634:p.Ala895Thr					MYH6_ENST00000356287.3_Missense_Mutation_p.A895T	p.A895T	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	21	2753	-	all_cancers(95;2.54e-05)		895					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.2683G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	14.96	2.691045	0.48097	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.83335	-1.71;-1.71	4.57	4.57	0.56435	.	.	.	.	.	D	0.82430	0.5035	M	0.69185	2.1	0.41265	D	0.986809	B	0.11235	0.004	B	0.15052	0.012	T	0.80054	-0.1543	9	0.44086	T	0.13	.	17.7489	0.88428	0.0:1.0:0.0:0.0	.	895	P13533	MYH6_HUMAN	T	895	ENSP00000386041:A895T;ENSP00000348634:A895T	ENSP00000348634:A895T	A	-	1	0	MYH6	22933119	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.360000	0.34125	2.274000	0.75844	0.555000	0.69702	GCG		0.582	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			57	39	0	0	0	1	0	57	39				
CIRBP	1153	broad.mit.edu	37	19	1271989	1271989	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:1271989G>C	ENST00000588030.1	+	6	701	c.441G>C	c.(439-441)caG>caC	p.Q147H	CIRBP_ENST00000591935.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000444172.2_Missense_Mutation_p.Q94H|CIRBP_ENST00000413636.2_Missense_Mutation_p.Q113H|CIRBP_ENST00000320936.5_Missense_Mutation_p.Q147H|CIRBP-AS1_ENST00000585832.1_RNA|CIRBP_ENST00000588230.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000585630.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000587323.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000589710.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000586773.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000589660.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000586472.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000589686.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000588090.1_Missense_Mutation_p.Q147H|CIRBP-AS1_ENST00000600215.1_RNA|CIRBP_ENST00000587896.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000589235.1_Missense_Mutation_p.Q147H			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	147	Gly-rich.				mRNA stabilization (GO:0048255)|positive regulation of translation (GO:0045727)|response to cold (GO:0009409)|response to UV (GO:0009411)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|small ribosomal subunit rRNA binding (GO:0070181)|translation repressor activity (GO:0030371)			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGGAGTCAGAGTGGTGGCT	0.612																																						ENST00000444172.2																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(280-282)caG>caC		cold inducible RNA binding protein							128.0	109.0	115.0					19																	1271989		2203	4300	6503	SO:0001583	missense	1153				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity	g.chr19:1271989G>C	D78134	CCDS12059.1, CCDS74244.1, CCDS74245.1	19p13.3	2013-02-12	2001-11-28		ENSG00000099622	ENSG00000099622		"""RNA binding motif (RRM) containing"""	1982	protein-coding gene	gene with protein product	"""Cold-inducible RNA-binding protein"", ""glycine-rich RNA binding protein"""	602649	"""cold inducible RNA-binding protein"""			9434172, 9151692	Standard	NM_001280		Approved	CIRP	uc002lrr.4	Q14011		ENST00000588030.1:c.441G>C	19.37:g.1271989G>C	ENSP00000468788:p.Gln147His					CIRBP_ENST00000588230.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000586472.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000320936.5_Missense_Mutation_p.Q147H|CIRBP_ENST00000589235.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000588030.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000588090.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000591935.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000587896.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000585630.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000586773.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000589660.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000589686.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000589710.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000413636.2_Missense_Mutation_p.Q113H|CIRBP_ENST00000587323.1_Missense_Mutation_p.Q147H	p.Q94H			Q14011	CIRBP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	416	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)	147			Gly-rich.		B3KT17|B4E2X2	Missense_Mutation	SNP	ENST00000588030.1	37	c.282G>C	CCDS12059.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695650	0.30052	.	.	ENSG00000099622	ENST00000320936;ENST00000413636;ENST00000444172	T;T	0.74421	0.16;-0.84	3.97	-0.00979	0.13999	.	0.328915	0.27705	N	0.018192	T	0.51907	0.1702	L	0.34521	1.04	0.42933	D	0.994328	B;B;B	0.32893	0.389;0.389;0.002	B;B;B	0.23150	0.044;0.044;0.001	T	0.34502	-0.9826	10	0.44086	T	0.13	-12.3701	3.0895	0.06289	0.543:0.0:0.2477:0.2092	.	113;147;147	B4E2X2;D6W5Y5;Q14011	.;.;CIRBP_HUMAN	H	147;113;94	ENSP00000322887:Q147H;ENSP00000412831:Q113H	ENSP00000322887:Q147H	Q	+	3	2	CIRBP	1222989	1.000000	0.71417	0.552000	0.28243	0.500000	0.33767	2.421000	0.44688	0.137000	0.18759	0.313000	0.20887	CAG		0.612	CIRBP-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449969.1	NM_001280		19	69	0	0	0	1	0	19	69				
ZNF354C	30832	broad.mit.edu	37	5	178506330	178506330	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:178506330G>A	ENST00000315475.6	+	5	1203	c.897G>A	c.(895-897)ccG>ccA	p.P299P		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	299					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GAGAGAAACCGTATCGATGTA	0.413																																						ENST00000315475.6																			0				endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30						c.(895-897)ccG>ccA		zinc finger protein 354C							147.0	144.0	145.0					5																	178506330		2203	4300	6503	SO:0001819	synonymous_variant	30832				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178506330G>A		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.897G>A	5.37:g.178506330G>A							p.P299P	NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	5	1203	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	299					Q6P4P9|Q8NFX1	Silent	SNP	ENST00000315475.6	37	c.897G>A	CCDS4443.1																																																																																				0.413	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			19	58	0	0	0	1	0	19	58				
ZNF624	57547	broad.mit.edu	37	17	16527527	16527527	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:16527527G>C	ENST00000311331.7	-	6	764	c.673C>G	c.(673-675)Caa>Gaa	p.Q225E		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	225					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TCTTGTGTTTGGCATCTGCTG	0.398																																					NSCLC(186;1023 2134 13330 38202 39800)	ENST00000311331.7																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26						c.(673-675)Caa>Gaa		zinc finger protein 624							108.0	110.0	109.0					17																	16527527		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16527527G>C	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.673C>G	17.37:g.16527527G>C	ENSP00000310472:p.Gln225Glu						p.Q225E	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	764	-			225					Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.673C>G	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.948436	0.00475	.	.	ENSG00000197566	ENST00000311331	T	0.04603	3.59	3.06	2.07	0.26955	.	.	.	.	.	T	0.01835	0.0058	N	0.01257	-0.925	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.47799	-0.9089	9	0.18276	T	0.48	.	9.5499	0.39304	0.0:0.0:0.7886:0.2113	.	225	Q9P2J8	ZN624_HUMAN	E	225	ENSP00000310472:Q225E	ENSP00000310472:Q225E	Q	-	1	0	ZNF624	16468252	0.000000	0.05858	0.012000	0.15200	0.046000	0.14306	-0.156000	0.10100	0.840000	0.34995	0.655000	0.94253	CAA		0.398	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		11	33	0	0	0	1	0	11	33				
PAH	5053	broad.mit.edu	37	12	103260442	103260442	+	Splice_Site	SNP	C	C	A	rs62514907		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:103260442C>A	ENST00000553106.1	-	5	914		c.e5-1		PAH_ENST00000307000.2_Splice_Site|PAH_ENST00000551988.1_Intron	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase						catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CTTTAAAACCCTAGGAGAAAA	0.468																																						ENST00000553106.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27	GRCh37	CS910453	PAH	S	rs62514907	c.e5-1		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						105.0	96.0	99.0					12																	103260442		2203	4300	6503	SO:0001630	splice_region_variant	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103260442C>A	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.442-1G>T	12.37:g.103260442C>A						PAH_ENST00000551988.1_Intron|PAH_ENST00000307000.2_Splice_Site		NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN			5	914	-								Q16717|Q8TC14	Splice_Site	SNP	ENST00000553106.1	37		CCDS9092.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175696	0.78564	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8194	0.88645	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PAH	101784572	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.809000	0.69172	2.894000	0.99253	0.655000	0.94253	.		0.468	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1		Intron	7	37	1	0	0.0381472	1	0.0387209	7	37				
ZNF202	7753	broad.mit.edu	37	11	123598959	123598959	+	Silent	SNP	C	C	T	rs144471098		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:123598959C>T	ENST00000529691.1	-	5	933	c.714G>A	c.(712-714)acG>acA	p.T238T	ZNF202_ENST00000336139.4_Silent_p.T238T|ZNF202_ENST00000530393.1_Silent_p.T238T			O95125	ZN202_HUMAN	zinc finger protein 202	238	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CATCCTTGAACGTTACCAGTC	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20408	0.0		0.0	False		,,,				2504	0.0					ENST00000336139.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(712-714)acG>acA		zinc finger protein 202		C		4,4400	9.9+/-24.2	0,4,2198	114.0	107.0	110.0		714	-6.8	0.9	11	dbSNP_134	110	0,8598		0,0,4299	no	coding-synonymous	ZNF202	NM_003455.2		0,4,6497	TT,TC,CC		0.0,0.0908,0.0308		238/649	123598959	4,12998	2202	4299	6501	SO:0001819	synonymous_variant	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123598959C>T	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.714G>A	11.37:g.123598959C>T						ZNF202_ENST00000529691.1_Silent_p.T238T|ZNF202_ENST00000530393.1_Silent_p.T238T	p.T238T			O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	6	1076	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	238			KRAB.		B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Silent	SNP	ENST00000529691.1	37	c.714G>A	CCDS8443.1																																																																																				0.463	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		4	50	0	0	0	1	0	4	50				
LRP2	4036	broad.mit.edu	37	2	170096157	170096157	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:170096157C>G	ENST00000263816.3	-	26	4459	c.4174G>C	c.(4174-4176)Gat>Cat	p.D1392H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1392	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TCACATTCATCTATGTCTTCA	0.438																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(4174-4176)Gat>Cat		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						140.0	134.0	136.0					2																	170096157		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170096157C>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4174G>C	2.37:g.170096157C>G	ENSP00000263816:p.Asp1392His						p.D1392H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	26	4459	-			1392			EGF-like 6; calcium-binding (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.4174G>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377107	0.61735	.	.	ENSG00000081479	ENST00000263816	D	0.88277	-2.36	5.54	-0.8	0.10897	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.318645	0.36703	N	0.002450	D	0.93812	0.8021	M	0.91140	3.18	0.80722	D	1	D	0.60160	0.987	D	0.64237	0.923	D	0.91740	0.5403	10	0.29301	T	0.29	.	13.7869	0.63115	0.0:0.1102:0.0:0.8898	.	1392	P98164	LRP2_HUMAN	H	1392	ENSP00000263816:D1392H	ENSP00000263816:D1392H	D	-	1	0	LRP2	169804403	0.044000	0.20184	0.584000	0.28653	0.926000	0.56050	0.375000	0.20518	-0.379000	0.07906	-0.145000	0.13849	GAT		0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		16	40	0	0	0	1	0	16	40				
KIF4B	285643	broad.mit.edu	37	5	154395530	154395530	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:154395530C>T	ENST00000435029.4	+	1	2271	c.2111C>T	c.(2110-2112)aCg>aTg	p.T704M		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	704	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGACGTAAAACGGAAGAGGCA	0.463																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(2110-2112)aCg>aTg		kinesin family member 4B							88.0	91.0	90.0					5																	154395530		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395530C>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2111C>T	5.37:g.154395530C>T	ENSP00000387875:p.Thr704Met						p.T704M	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2271	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	704			Interaction with PRC1 (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.2111C>T	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	c	11.30	1.598305	0.28445	.	.	ENSG00000226650	ENST00000435029	T	0.20332	2.08	2.86	2.86	0.33363	.	.	.	.	.	T	0.16557	0.0398	L	0.47716	1.5	0.52501	D	0.999952	P	0.46621	0.881	B	0.37267	0.245	T	0.06427	-1.0827	9	0.33940	T	0.23	.	11.4546	0.50173	0.0:1.0:0.0:0.0	.	704	Q2VIQ3	KIF4B_HUMAN	M	704	ENSP00000387875:T704M	ENSP00000387875:T704M	T	+	2	0	KIF4B	154375723	1.000000	0.71417	0.965000	0.40720	0.849000	0.48306	4.664000	0.61540	1.330000	0.45394	0.563000	0.77884	ACG		0.463	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			13	50	0	0	0	1	0	13	50				
ANKRD50	57182	broad.mit.edu	37	4	125592865	125592865	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:125592865C>G	ENST00000504087.1	-	4	2604	c.1567G>C	c.(1567-1569)Gaa>Caa	p.E523Q	ANKRD50_ENST00000515641.1_Missense_Mutation_p.E344Q	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	523										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TCCTCTCTTTCTAAGGCTTGT	0.423																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(1567-1569)Gaa>Caa		ankyrin repeat domain 50							116.0	113.0	114.0					4																	125592865		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125592865C>G	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1567G>C	4.37:g.125592865C>G	ENSP00000425658:p.Glu523Gln					ANKRD50_ENST00000515641.1_Missense_Mutation_p.E344Q	p.E523Q	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	2604	-			523					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.1567G>C	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.976800	0.53720	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.64085	-0.08;2.39	4.74	4.74	0.60224	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.52661	0.1748	L	0.34521	1.04	0.58432	D	0.999998	P	0.38922	0.651	B	0.36666	0.23	T	0.54296	-0.8315	10	0.34782	T	0.22	.	17.9224	0.88970	0.0:1.0:0.0:0.0	.	523	Q9ULJ7	ANR50_HUMAN	Q	523;344	ENSP00000425658:E523Q;ENSP00000425355:E344Q	ENSP00000425658:E523Q	E	-	1	0	ANKRD50	125812315	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	7.164000	0.77533	2.474000	0.83562	0.555000	0.69702	GAA		0.423	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		14	53	0	0	0	1	0	14	53				
LMF2	91289	broad.mit.edu	37	22	50942864	50942864	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr22:50942864C>G	ENST00000474879.2	-	12	1638	c.1623G>C	c.(1621-1623)caG>caC	p.Q541H	LMF2_ENST00000216080.5_Missense_Mutation_p.Q516H|LMF2_ENST00000505981.1_5'Flank|LMF2_ENST00000380796.3_Missense_Mutation_p.Q428H	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	541						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACTTGGCTCTGGACAAGGC	0.672																																						ENST00000216080.5																			0				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(1546-1548)caG>caC		lipase maturation factor 2							77.0	66.0	70.0					22																	50942864		2202	4299	6501	SO:0001583	missense	91289					endoplasmic reticulum membrane|integral to membrane		g.chr22:50942864C>G	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.1623G>C	22.37:g.50942864C>G	ENSP00000424381:p.Gln541His					LMF2_ENST00000380796.3_Missense_Mutation_p.Q428H|LMF2_ENST00000474879.2_Missense_Mutation_p.Q541H	p.Q516H			Q9BU23	LMF2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	12	1716	-		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	541					A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Missense_Mutation	SNP	ENST00000474879.2	37	c.1548G>C	CCDS14093.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.75|19.75	3.886321|3.886321	0.72410|0.72410	.|.	.|.	ENSG00000100258|ENSG00000100258	ENST00000487499|ENST00000380796;ENST00000474879;ENST00000216080	.|T;T;T	.|0.23147	.|1.92;1.92;1.92	5.93|5.93	3.51|3.51	0.40186|0.40186	.|.	.|0.060003	.|0.64402	.|D	.|0.000002	T|T	0.27967|0.27967	0.0689|0.0689	L|L	0.58969|0.58969	1.84|1.84	0.27412|0.27412	N|N	0.954555|0.954555	.|P;B	.|0.34909	.|0.475;0.42	.|B;B	.|0.40009	.|0.316;0.211	T|T	0.21245|0.21245	-1.0251|-1.0251	5|10	.|0.72032	.|D	.|0.01	0.3867|0.3867	8.135|8.135	0.31050|0.31050	0.0:0.7379:0.0:0.2621|0.0:0.7379:0.0:0.2621	.|.	.|541;516	.|Q9BU23;Q9BU23-2	.|LMF2_HUMAN;.	Q|H	548|428;541;516	.|ENSP00000370173:Q428H;ENSP00000424381:Q541H;ENSP00000216080:Q516H	.|ENSP00000216080:Q516H	E|Q	-|-	1|3	0|2	LMF2|LMF2	49289730|49289730	0.967000|0.967000	0.33354|0.33354	0.933000|0.933000	0.37362|0.37362	0.011000|0.011000	0.07611|0.07611	2.259000|2.259000	0.43259|0.43259	1.507000|1.507000	0.48752|0.48752	0.655000|0.655000	0.94253|0.94253	GAG|CAG		0.672	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	NM_033200		14	27	0	0	0	1	0	14	27				
VCAN	1462	broad.mit.edu	37	5	82815925	82815925	+	Silent	SNP	C	C	G	rs376175731		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:82815925C>G	ENST00000265077.3	+	7	2365	c.1800C>G	c.(1798-1800)gtC>gtG	p.V600V	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Silent_p.V552V|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Silent_p.V600V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	600	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGGAGTCAGTCTCAGCATCCA	0.423																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(1798-1800)gtC>gtG		versican							124.0	124.0	124.0					5																	82815925		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82815925C>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1800C>G	5.37:g.82815925C>G						VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Silent_p.V552V|VCAN_ENST00000342785.4_Silent_p.V600V|VCAN_ENST00000343200.5_Intron	p.V600V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	2365	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	600			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.1800C>G	CCDS4060.1																																																																																				0.423	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		22	48	0	0	0	1	0	22	48				
EXT2	2132	broad.mit.edu	37	11	44135751	44135751	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:44135751G>A	ENST00000343631.3	+	4	772	c.643G>A	c.(643-645)Ggc>Agc	p.G215S	EXT2_ENST00000358681.4_Missense_Mutation_p.G215S|EXT2_ENST00000533608.1_Missense_Mutation_p.G215S|EXT2_ENST00000395673.3_Missense_Mutation_p.G248S|EXT2_ENST00000529186.1_3'UTR			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	215					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GTTGGCTGGTGGCGGCTTTTC	0.473			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													ENST00000395673.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"""Mis, N, F, S"""	multiple exostoses type 2 gene			M		"""exostoses, osteosarcoma"""			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(742-744)Ggc>Agc		exostosin glycosyltransferase 2							132.0	121.0	124.0					11																	44135751		2203	4300	6503	SO:0001583	missense	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44135751G>A		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.643G>A	11.37:g.44135751G>A	ENSP00000342656:p.Gly215Ser					EXT2_ENST00000358681.4_Missense_Mutation_p.G215S|EXT2_ENST00000533608.1_Missense_Mutation_p.G215S|EXT2_ENST00000529186.1_3'UTR|EXT2_ENST00000343631.3_Missense_Mutation_p.G215S	p.G248S	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN			4	798	+			215					B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.742G>A	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	G	33	5.245989	0.95272	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.97642	0.9227	L	0.48642	1.525	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.977;0.972;0.988;0.988	D;P;P;P;P	0.97110	1.0;0.896;0.868;0.896;0.896	D	0.96499	0.9370	10	0.23891	T	0.37	-17.8791	19.7534	0.96277	0.0:0.0:1.0:0.0	.	215;215;215;215;228	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	S	215;215;248;215	ENSP00000431173:G215S;ENSP00000351509:G215S;ENSP00000379032:G248S;ENSP00000342656:G215S	ENSP00000342656:G215S	G	+	1	0	EXT2	44092327	1.000000	0.71417	0.978000	0.43139	0.899000	0.52679	9.686000	0.98664	2.673000	0.90976	0.650000	0.86243	GGC		0.473	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		16	50	0	0	0	1	0	16	50				
FNBP4	23360	broad.mit.edu	37	11	47786901	47786901	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:47786901C>T	ENST00000263773.5	-	2	246	c.234G>A	c.(232-234)gcG>gcA	p.A78A	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	78						nucleus (GO:0005634)		p.A78A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CCTCCTGCACCGCTTCCTGTT	0.378																																						ENST00000263773.5																			1	Substitution - coding silent(1)	p.A78A(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(232-234)gcG>gcA		formin binding protein 4							198.0	190.0	192.0					11																	47786901		1826	4081	5907	SO:0001819	synonymous_variant	23360							g.chr11:47786901C>T	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.234G>A	11.37:g.47786901C>T						FNBP4_ENST00000534003.1_5'UTR	p.A78A	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			2	246	-			78					Q9H985|Q9NT81|Q9Y2L7	Silent	SNP	ENST00000263773.5	37	c.234G>A	CCDS41644.1																																																																																				0.378	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			39	89	0	0	0	1	0	39	89				
SDC3	9672	broad.mit.edu	37	1	31349455	31349455	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:31349455C>T	ENST00000339394.6	-	3	988	c.814G>A	c.(814-816)Gag>Aag	p.E272K	SDC3_ENST00000336798.7_Missense_Mutation_p.E214K|SDC3_ENST00000471567.1_5'Flank	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	272	Ser/Thr-rich (mucin-like).				carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GTGCTCCTCTCAGGGATGTCA	0.682																																						ENST00000336798.7																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(640-642)Gag>Aag		syndecan 3							23.0	24.0	23.0					1																	31349455		2203	4300	6503	SO:0001583	missense	9672					integral to membrane	cytoskeletal protein binding	g.chr1:31349455C>T	AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"""Proteoglycans / Cell Surface : Syndecans"""	10660	protein-coding gene	gene with protein product	"""syndecan proteoglycan 3"""	186357	"""syndecan 3 (N-syndecan)"""			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.814G>A	1.37:g.31349455C>T	ENSP00000344468:p.Glu272Lys					SDC3_ENST00000339394.6_Missense_Mutation_p.E272K	p.E214K			O75056	SDC3_HUMAN		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)	1	2132	-		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	272			Ser/Thr-rich (mucin-like).		Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Missense_Mutation	SNP	ENST00000339394.6	37	c.640G>A	CCDS30661.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252319	0.80135	.	.	ENSG00000162512	ENST00000336798;ENST00000339394	T;T	0.25912	1.77;1.78	4.99	4.08	0.47627	.	0.189622	0.36066	N	0.002820	T	0.16041	0.0386	L	0.27053	0.805	0.43846	D	0.996438	B;B	0.17667	0.01;0.023	B;B	0.20955	0.025;0.032	T	0.05305	-1.0893	10	0.10111	T	0.7	-12.919	10.6253	0.45504	0.0:0.9105:0.0:0.0895	.	272;214	O75056;D3DPN2	SDC3_HUMAN;.	K	214;272	ENSP00000338346:E214K;ENSP00000344468:E272K	ENSP00000338346:E214K	E	-	1	0	SDC3	31122042	0.996000	0.38824	0.867000	0.34043	0.906000	0.53458	3.655000	0.54460	1.098000	0.41479	0.462000	0.41574	GAG		0.682	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	NM_014654		10	19	0	0	0	1	0	10	19				
KIF21B	23046	broad.mit.edu	37	1	200969536	200969536	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:200969536A>T	ENST00000422435.2	-	11	1983	c.1667T>A	c.(1666-1668)gTc>gAc	p.V556D	KIF21B_ENST00000360529.5_Missense_Mutation_p.V556D|KIF21B_ENST00000461742.2_Missense_Mutation_p.V556D|KIF21B_ENST00000332129.2_Missense_Mutation_p.V556D	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	556					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCGCTGCCTGACCTCCTTCTT	0.687																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(1666-1668)gTc>gAc		kinesin family member 21B							114.0	123.0	120.0					1																	200969536		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200969536A>T	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1667T>A	1.37:g.200969536A>T	ENSP00000411831:p.Val556Asp					KIF21B_ENST00000461742.2_Missense_Mutation_p.V556D|KIF21B_ENST00000422435.2_Missense_Mutation_p.V556D|KIF21B_ENST00000360529.5_Missense_Mutation_p.V556D	p.V556D	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			11	1983	-			556					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.1667T>A	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	A	12.30	1.895901	0.33442	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.70282	1.99;-0.47;1.99;-0.2	5.28	1.49	0.22878	.	0.337939	0.27932	N	0.017269	T	0.51278	0.1665	L	0.29908	0.895	0.43971	D	0.996656	B;B;B;B	0.23735	0.023;0.023;0.09;0.039	B;B;B;B	0.16289	0.006;0.006;0.015;0.014	T	0.30995	-0.9959	10	0.32370	T	0.25	.	6.144	0.20275	0.4333:0.4391:0.1275:0.0	.	556;556;556;556	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	D	556	ENSP00000328494:V556D;ENSP00000353724:V556D;ENSP00000433808:V556D;ENSP00000411831:V556D	ENSP00000328494:V556D	V	-	2	0	KIF21B	199236159	0.998000	0.40836	1.000000	0.80357	0.682000	0.39822	1.192000	0.32150	0.302000	0.22762	0.460000	0.39030	GTC		0.687	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		63	69	0	0	0	1	0	63	69				
DIS3L	115752	broad.mit.edu	37	15	66618577	66618577	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:66618577C>T	ENST00000319212.4	+	12	2126	c.2076C>T	c.(2074-2076)gtC>gtT	p.V692V	DIS3L_ENST00000319194.5_Silent_p.V609V|RP11-352G18.2_ENST00000565993.1_RNA	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	692					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ACCACTGGGTCGCCAAAAAGA	0.542																																						ENST00000319194.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1825-1827)gtC>gtT		DIS3 mitotic control homolog (S. cerevisiae)-like							72.0	73.0	73.0					15																	66618577		2201	4299	6500	SO:0001819	synonymous_variant	115752				rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	g.chr15:66618577C>T		CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.2076C>T	15.37:g.66618577C>T						RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319212.4_Silent_p.V692V	p.V609V	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN			12	2088	+			692					Q8N1N8|Q8WTU9|Q96CM7	Silent	SNP	ENST00000319212.4	37	c.1827C>T	CCDS45286.1																																																																																				0.542	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375		15	42	0	0	0	1	0	15	42				
MYRIP	25924	broad.mit.edu	37	3	40251521	40251521	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:40251521G>C	ENST00000302541.6	+	11	2184	c.1842G>C	c.(1840-1842)gaG>gaC	p.E614D	MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Missense_Mutation_p.E525D|MYRIP_ENST00000425621.1_Missense_Mutation_p.E614D|MYRIP_ENST00000444716.1_Missense_Mutation_p.E614D|MYRIP_ENST00000539167.1_Missense_Mutation_p.E427D|RN7SL411P_ENST00000585204.1_RNA	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	614	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CAGAATCTGAGAACCAGAAGG	0.493																																						ENST00000302541.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1840-1842)gaG>gaC		myosin VIIA and Rab interacting protein							60.0	58.0	59.0					3																	40251521		2203	4300	6503	SO:0001583	missense	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40251521G>C	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1842G>C	3.37:g.40251521G>C	ENSP00000301972:p.Glu614Asp					MYRIP_ENST00000539167.1_Missense_Mutation_p.E427D|MYRIP_ENST00000396217.3_Missense_Mutation_p.E525D|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Missense_Mutation_p.E614D|MYRIP_ENST00000444716.1_Missense_Mutation_p.E614D	p.E614D	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	11	2184	+			614			Actin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	c.1842G>C	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261187	0.39995	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.52	3.63	0.41609	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.755546	0.12662	N	0.449571	T	0.19886	0.0478	L	0.40543	1.245	0.28279	N	0.924065	B;B;B	0.25048	0.117;0.02;0.004	B;B;B	0.29524	0.103;0.016;0.007	T	0.06643	-1.0815	9	.	.	.	.	6.3292	0.21260	0.1001:0.2024:0.6975:0.0	.	525;614;614	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	D	614;614;614;525;427	ENSP00000398665:E614D;ENSP00000301972:E614D;ENSP00000389323:E614D;ENSP00000379519:E525D;ENSP00000438297:E427D	.	E	+	3	2	MYRIP	40226525	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	2.701000	0.47094	2.603000	0.88011	0.655000	0.94253	GAG		0.493	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		8	19	0	0	0	1	0	8	19				
LRP2	4036	broad.mit.edu	37	2	170139444	170139444	+	Silent	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:170139444C>G	ENST00000263816.3	-	10	1395	c.1110G>C	c.(1108-1110)ctG>ctC	p.L370L	LRP2_ENST00000443831.1_Silent_p.L370L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	370	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CACAGTGGCACAGGTGACGGC	0.443																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(1108-1110)ctG>ctC		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						171.0	165.0	167.0					2																	170139444		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170139444C>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1110G>C	2.37:g.170139444C>G						LRP2_ENST00000443831.1_Silent_p.L370L	p.L370L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	10	1395	-			370			EGF-like 2.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.1110G>C	CCDS2232.1																																																																																				0.443	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		18	81	0	0	0	1	0	18	81				
ATP13A4	84239	broad.mit.edu	37	3	193120568	193120568	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:193120568T>A	ENST00000342695.4	-	30	3786	c.3464A>T	c.(3463-3465)cAg>cTg	p.Q1155L	ATP13A4_ENST00000392443.3_Missense_Mutation_p.Q1136L|ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000400270.2_Missense_Mutation_p.Q171L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1155						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CAAGTCCCTCTGCCATATCCG	0.468																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(3463-3465)cAg>cTg		ATPase type 13A4							87.0	85.0	86.0					3																	193120568		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193120568T>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.3464A>T	3.37:g.193120568T>A	ENSP00000339182:p.Gln1155Leu					ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000392443.3_Missense_Mutation_p.Q1136L|ATP13A4_ENST00000400270.2_Missense_Mutation_p.Q171L	p.Q1155L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	30	3786	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		1155					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.3464A>T	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	T	19.14	3.769273	0.69992	.	.	ENSG00000127249	ENST00000400270;ENST00000392443;ENST00000342695	T;T;T	0.63096	-0.02;-0.02;-0.02	5.0	5.0	0.66597	.	0.094778	0.45606	D	0.000345	T	0.69486	0.3116	L	0.54323	1.7	0.80722	D	1	D	0.69078	0.997	D	0.66602	0.945	T	0.68089	-0.5501	10	0.34782	T	0.22	-10.8733	8.4854	0.33067	0.1732:0.0:0.0:0.8268	.	1155	Q4VNC1	AT134_HUMAN	L	171;1136;1155	ENSP00000383129:Q171L;ENSP00000376238:Q1136L;ENSP00000339182:Q1155L	ENSP00000339182:Q1155L	Q	-	2	0	ATP13A4	194603262	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	3.283000	0.51701	2.008000	0.58898	0.486000	0.48141	CAG		0.468	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		5	38	0	0	0	1	0	5	38				
BCAT2	587	broad.mit.edu	37	19	49299738	49299738	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:49299738C>T	ENST00000316273.6	-	10	1099	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	BCAT2_ENST00000545387.2_Missense_Mutation_p.E271K|BCAT2_ENST00000402551.1_Missense_Mutation_p.E323K|BCAT2_ENST00000597011.1_Missense_Mutation_p.E323K|BCAT2_ENST00000598162.1_Missense_Mutation_p.E363K|BCAT2_ENST00000599246.1_Missense_Mutation_p.E271K	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	363					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	GGCCCATTTTCCATGGTGGGA	0.622																																						ENST00000402551.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12						c.(967-969)Gaa>Aaa		branched chain amino-acid transaminase 2, mitochondrial	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)						129.0	113.0	118.0					19																	49299738		2203	4300	6503	SO:0001583	missense	587					mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr19:49299738C>T	U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"""branched chain aminotransferase 2, mitochondrial"""	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.1087G>A	19.37:g.49299738C>T	ENSP00000322991:p.Glu363Lys					BCAT2_ENST00000598162.1_Missense_Mutation_p.E363K|BCAT2_ENST00000545387.2_Missense_Mutation_p.E271K|BCAT2_ENST00000599246.1_Missense_Mutation_p.E271K|BCAT2_ENST00000316273.6_Missense_Mutation_p.E363K|BCAT2_ENST00000597011.1_Missense_Mutation_p.E323K	p.E323K			O15382	BCAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	11	1587	-		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	363					B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Missense_Mutation	SNP	ENST00000316273.6	37	c.967G>A	CCDS12735.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779704	0.49891	.	.	ENSG00000105552	ENST00000316273;ENST00000545387;ENST00000402551	T;T;T	0.17528	2.27;2.27;2.27	4.66	4.66	0.58398	.	0.359582	0.29260	N	0.012677	T	0.17492	0.0420	L	0.41415	1.275	0.53688	D	0.999978	B;B;B;B	0.29766	0.139;0.256;0.012;0.139	B;B;B;B	0.33392	0.084;0.163;0.023;0.123	T	0.03807	-1.1002	10	0.34782	T	0.22	0.0112	15.4539	0.75297	0.0:1.0:0.0:0.0	.	323;363;271;363	B3KSI3;Q53EW7;O15382-2;O15382	.;.;.;BCAT2_HUMAN	K	363;271;323	ENSP00000322991:E363K;ENSP00000440973:E271K;ENSP00000385161:E323K	ENSP00000322991:E363K	E	-	1	0	BCAT2	53991550	1.000000	0.71417	0.998000	0.56505	0.899000	0.52679	1.997000	0.40786	2.577000	0.86979	0.561000	0.74099	GAA		0.622	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466202.1			22	59	0	0	0	1	0	22	59				
MTHFD2	10797	broad.mit.edu	37	2	74425844	74425844	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:74425844C>T	ENST00000394053.2	+	1	156	c.76C>T	c.(76-78)Cgc>Tgc	p.R26C	MTHFD2_ENST00000264090.4_5'UTR|MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000409804.1_Missense_Mutation_p.R26C|MTHFD2_ENST00000394050.3_5'UTR|MTHFD2_ENST00000409601.1_Missense_Mutation_p.R26C	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	26					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	CCTTCGCCTTCGCCCTTTCCA	0.687																																						ENST00000394053.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(76-78)Cgc>Tgc		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						18.0	22.0	21.0					2																	74425844		1976	4149	6125	SO:0001583	missense	10797				folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding	g.chr2:74425844C>T	X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.76C>T	2.37:g.74425844C>T	ENSP00000377617:p.Arg26Cys					MTHFD2_ENST00000394050.3_5'UTR|MTHFD2_ENST00000409601.1_Missense_Mutation_p.R26C|MTHFD2_ENST00000264090.4_5'UTR|MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000409804.1_Missense_Mutation_p.R26C	p.R26C	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN			1	156	+			26					Q53G90|Q53GV5|Q53S36|Q7Z650	Missense_Mutation	SNP	ENST00000394053.2	37	c.76C>T	CCDS1935.2	.	.	.	.	.	.	.	.	.	.	C	4.458	0.084794	0.08583	.	.	ENSG00000065911	ENST00000394053;ENST00000409804;ENST00000409601	T;T;T	0.51574	1.83;0.7;1.72	4.58	2.78	0.32641	.	0.698788	0.14267	N	0.330450	T	0.26955	0.0660	N	0.14661	0.345	0.22127	N	0.999345	B;B	0.22851	0.076;0.006	B;B	0.14023	0.01;0.006	T	0.13791	-1.0496	10	0.46703	T	0.11	.	5.7873	0.18340	0.191:0.7119:0.0:0.0971	.	26;26	B8ZZU9;P13995	.;MTDC_HUMAN	C	26	ENSP00000377617:R26C;ENSP00000386536:R26C;ENSP00000386542:R26C	ENSP00000377617:R26C	R	+	1	0	MTHFD2	74279352	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.363000	0.20301	0.857000	0.35407	0.591000	0.81541	CGC		0.687	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252045.2			12	8	0	0	0	1	0	12	8				
FAM133A	286499	broad.mit.edu	37	X	92964763	92964763	+	Missense_Mutation	SNP	C	C	G	rs192471272		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:92964763C>G	ENST00000355813.5	+	4	871	c.345C>G	c.(343-345)agC>agG	p.S115R	FAM133A_ENST00000322139.4_Missense_Mutation_p.S115R|FAM133A_ENST00000538690.1_Missense_Mutation_p.S115R|FAM133A_ENST00000332647.4_Missense_Mutation_p.S115R	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	115	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						ATTCTTCAAGCAGTTCTTCAG	0.363																																						ENST00000538690.1																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						c.(343-345)agC>agG		family with sequence similarity 133, member A							14.0	13.0	14.0					X																	92964763		2174	4256	6430	SO:0001583	missense	286499							g.chrX:92964763C>G	AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"""cancer/testis antigen 115"""						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.345C>G	X.37:g.92964763C>G	ENSP00000348067:p.Ser115Arg					FAM133A_ENST00000332647.4_Missense_Mutation_p.S115R|FAM133A_ENST00000322139.4_Missense_Mutation_p.S115R|FAM133A_ENST00000355813.5_Missense_Mutation_p.S115R	p.S115R	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN			5	906	+			115			Lys-rich.|Ser-rich.			Missense_Mutation	SNP	ENST00000355813.5	37	c.345C>G	CCDS14466.1	.	.	.	.	.	.	.	.	.	.	c	12.48	1.950613	0.34377	.	.	ENSG00000179083	ENST00000538690;ENST00000355813;ENST00000322139;ENST00000332647	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	3.2	3.2	0.36748	.	0.091899	0.64402	D	0.000001	T	0.48840	0.1522	M	0.68593	2.085	0.26162	N	0.97999	B	0.28713	0.22	B	0.30179	0.112	T	0.52668	-0.8545	10	0.72032	D	0.01	0.4764	9.0262	0.36232	0.0:1.0:0.0:0.0	.	115	Q8N9E0	F133A_HUMAN	R	115	ENSP00000441389:S115R;ENSP00000348067:S115R;ENSP00000318974:S115R;ENSP00000362169:S115R	ENSP00000318974:S115R	S	+	3	2	FAM133A	92851419	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.477000	0.22196	1.862000	0.54008	0.597000	0.82753	AGC		0.363	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057452.1	NM_173698		4	7	0	0	0	1	0	4	7				
FHL2	2274	broad.mit.edu	37	2	106015388	106015388	+	5'UTR	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:106015388C>T	ENST00000393353.3	-	0	120				FHL2_ENST00000409177.1_Intron|FHL2_ENST00000607522.1_Intron|FHL2_ENST00000408995.1_Intron|FHL2_ENST00000358129.4_5'UTR|FHL2_ENST00000393352.3_Intron|FHL2_ENST00000322142.8_Intron|FHL2_ENST00000344213.4_Missense_Mutation_p.E56K|FHL2_ENST00000336660.5_Intron|FHL2_ENST00000409807.1_5'Flank	NM_001450.3	NP_001441.4	Q14192	FHL2_HUMAN	four and a half LIM domains 2						androgen receptor signaling pathway (GO:0030521)|atrial cardiac muscle cell development (GO:0055014)|cellular lipid metabolic process (GO:0044255)|heart trabecula formation (GO:0060347)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|M band (GO:0031430)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Z disc (GO:0030018)	androgen receptor binding (GO:0050681)|identical protein binding (GO:0042802)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						CTAAGCCCCTCGGCCTCCCTC	0.731																																						ENST00000344213.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(166-168)Gag>Aag		four and a half LIM domains 2							10.0	10.0	10.0					2																	106015388		873	1986	2859	SO:0001623	5_prime_UTR_variant	2274				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding	g.chr2:106015388C>T		CCDS2070.1	2q12.2	2014-09-17			ENSG00000115641	ENSG00000115641			3703	protein-coding gene	gene with protein product		602633				8753811	Standard	NM_201557		Approved	SLIM3, DRAL	uc002tcy.3	Q14192	OTTHUMG00000153120	ENST00000393353.3:c.-114G>A	2.37:g.106015388C>T						FHL2_ENST00000322142.8_Intron|FHL2_ENST00000393353.3_5'UTR|FHL2_ENST00000336660.5_Intron|FHL2_ENST00000358129.4_5'UTR|FHL2_ENST00000607522.1_Intron|FHL2_ENST00000408995.1_Intron|FHL2_ENST00000393352.3_Intron|FHL2_ENST00000409177.1_Intron	p.E56K			Q14192	FHL2_HUMAN			1	293	-			0			LIM zinc-binding 1.		Q13229|Q13644|Q2I5I4|Q5TM15|Q9P294	Missense_Mutation	SNP	ENST00000393353.3	37	c.166G>A	CCDS2070.1	.	.	.	.	.	.	.	.	.	.	c	12.28	1.891582	0.33442	.	.	ENSG00000115641	ENST00000344213	T	0.62788	-0.0	2.04	-1.39	0.08997	.	.	.	.	.	T	0.42787	0.1218	.	.	.	0.09310	N	0.999996	B	0.19583	0.037	B	0.08055	0.003	T	0.22661	-1.0210	8	0.44086	T	0.13	.	4.3536	0.11167	0.0:0.4203:0.4183:0.1614	.	56	Q2XQU9	.	K	56	ENSP00000344266:E56K	ENSP00000344266:E56K	E	-	1	0	FHL2	105381820	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.513000	0.06305	-0.374000	0.07967	0.457000	0.33378	GAG		0.731	FHL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329656.2			5	8	0	0	0	1	0	5	8				
KDM6A	7403	broad.mit.edu	37	X	44910975	44910975	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:44910975G>T	ENST00000377967.4	+	9	717	c.676G>T	c.(676-678)Gaa>Taa	p.E226*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.E226*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.E226*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.E226*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	226	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(4)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTCTGCAAAAGAAGCTTATGA	0.284			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		10	Whole gene deletion(6)|No detectable mRNA/protein(4)	p.0?(6)|p.0(4)	haematopoietic_and_lymphoid_tissue(4)|oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(676-678)Gaa>Taa		lysine (K)-specific demethylase 6A							37.0	33.0	34.0					X																	44910975		2199	4294	6493	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44910975G>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.676G>T	X.37:g.44910975G>T	ENSP00000367203:p.Glu226*					KDM6A_ENST00000543216.1_Nonsense_Mutation_p.E226*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.E226*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.E226*	p.E226*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			9	717	+			226					Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.676G>T	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	35	5.468627	0.96274	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-8.3643	12.0205	0.53340	0.0863:0.0:0.9137:0.0	.	.	.	.	X	226	.	ENSP00000367203:E226X	E	+	1	0	KDM6A	44795919	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.253000	0.72453	2.169000	0.68431	0.538000	0.68166	GAA		0.284	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		3	7	1	0	0.115264	1	0.116124	3	7				
SYNRG	11276	broad.mit.edu	37	17	35932001	35932001	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:35932001C>T	ENST00000339208.6	-	9	1127	c.987G>A	c.(985-987)ggG>ggA	p.G329G	SYNRG_ENST00000591288.1_Silent_p.G251G|SYNRG_ENST00000585472.1_Silent_p.G250G|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000502449.2_Silent_p.G251G|SYNRG_ENST00000345615.4_Silent_p.G251G|SYNRG_ENST00000346661.4_Silent_p.G329G|SYNRG_ENST00000394378.2_Silent_p.G251G	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	329	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCCTGGGAAGCCCAGATGACA	0.403																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(985-987)ggG>ggA		synergin, gamma							157.0	150.0	152.0					17																	35932001		2203	4300	6503	SO:0001819	synonymous_variant	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35932001C>T	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.987G>A	17.37:g.35932001C>T						SYNRG_ENST00000345615.4_Silent_p.G251G|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000585472.1_Silent_p.G250G|SYNRG_ENST00000502449.2_Silent_p.G251G|SYNRG_ENST00000346661.4_Silent_p.G329G|SYNRG_ENST00000591288.1_Silent_p.G251G|SYNRG_ENST00000394378.2_Silent_p.G251G	p.G329G	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			9	1127	-			329			EH.		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	ENST00000339208.6	37	c.987G>A	CCDS11321.1																																																																																				0.403	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		15	42	0	0	0	1	0	15	42				
KRTAP19-3	337970	broad.mit.edu	37	21	31864135	31864135	+	Silent	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr21:31864135G>T	ENST00000334063.4	-	1	140	c.141C>A	c.(139-141)ggC>ggA	p.G47G		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	47						intermediate filament (GO:0005882)				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						CAAAGCCAGAGCCATATCCGT	0.557																																						ENST00000334063.4																			0				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						c.(139-141)ggC>ggA		keratin associated protein 19-3							190.0	195.0	193.0					21																	31864135		2203	4300	6503	SO:0001819	synonymous_variant	337970					intermediate filament		g.chr21:31864135G>T	AP001708	CCDS13596.1	21q22.1	2011-02-10			ENSG00000244025	ENSG00000244025		"""Keratin associated proteins"""	18938	protein-coding gene	gene with protein product						12359730	Standard	NM_181609		Approved	KAP19.3	uc002yog.1	Q7Z4W3	OTTHUMG00000057782	ENST00000334063.4:c.141C>A	21.37:g.31864135G>T							p.G47G	NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN			1	140	-			47						Silent	SNP	ENST00000334063.4	37	c.141C>A	CCDS13596.1																																																																																				0.557	KRTAP19-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128234.2			47	176	1	0	8.72198e-27	1	9.89468e-27	47	176				
PEG3	5178	broad.mit.edu	37	19	57334959	57334959	+	Splice_Site	SNP	A	A	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:57334959A>C	ENST00000326441.9	-	5	845		c.e5+1		ZIM2_ENST00000593931.1_Splice_Site_p.S35R|PEG3_ENST00000598410.1_Splice_Site_p.S35R|ZIM2_ENST00000593711.1_Splice_Site_p.S35R|PEG3_ENST00000593695.1_Splice_Site|PEG3_ENST00000594706.1_5'Flank|PEG3_ENST00000423103.2_Splice_Site|ZIM2_ENST00000599935.1_Splice_Site_p.S35R|ZIM2_ENST00000601070.1_Splice_Site_p.S35R|ZIM2_ENST00000221722.5_Splice_Site_p.S35R|ZIM2_ENST00000391708.3_Splice_Site_p.S35R	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3						apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGTACTCACCACTGAAAGAAT	0.572																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.e5+1		paternally expressed 3							238.0	168.0	192.0					19																	57334959		2203	4300	6503	SO:0001630	splice_region_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57334959A>C	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.481+1T>G	19.37:g.57334959A>C						ZIM2_ENST00000601070.1_Splice_Site_p.S35_splice|PEG3_ENST00000598410.1_Splice_Site_p.S35_splice|ZIM2_ENST00000599935.1_Splice_Site_p.S35_splice|ZIM2_ENST00000221722.5_Splice_Site_p.S35_splice|ZIM2_ENST00000593931.1_Splice_Site_p.S35_splice|PEG3_ENST00000593695.1_Splice_Site|ZIM2_ENST00000593711.1_Splice_Site_p.S35_splice|PEG3_ENST00000423103.2_Splice_Site|ZIM2_ENST00000391708.3_Splice_Site_p.S35_splice		NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	5	845	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)						A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Splice_Site	SNP	ENST00000326441.9	37		CCDS12948.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.89|12.89	2.072147|2.072147	0.36566|0.36566	.|.	.|.	ENSG00000198300|ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074|ENST00000391708;ENST00000221722	.|T;T	.|0.06933	.|3.24;3.24	4.29|4.29	2.18|2.18	0.27775|0.27775	.|.	.|.	.|.	.|.	.|.	.|T	.|0.04272	.|0.0118	N|N	0.19112|0.19112	0.55|0.55	.|.	.|.	.|.	.|P;P;P	.|0.44578	.|0.697;0.697;0.838	.|B;B;B	.|0.38562	.|0.143;0.201;0.276	.|T	.|0.21314	.|-1.0249	.|8	.|0.11182	.|T	.|0.66	.|.	6.1586|6.1586	0.20352|0.20352	0.2311:0.0:0.7689:0.0|0.2311:0.0:0.7689:0.0	.|.	.|35;94;35	.|A7E2B8;Q96Q96;Q9NZV7	.|.;.;ZIM2_HUMAN	.|R	-1|35	.|ENSP00000375589:S35R;ENSP00000221722:S35R	.|ENSP00000221722:S35R	.|S	-|-	.|3	.|2	ZIM2|ZIM2	62026771|62026771	0.017000|0.017000	0.18338|0.18338	0.583000|0.583000	0.28640|0.28640	0.088000|0.088000	0.18126|0.18126	0.222000|0.222000	0.17699|0.17699	0.743000|0.743000	0.32719|0.32719	-0.242000|-0.242000	0.12053|0.12053	.|AGT		0.572	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		Intron	12	32	0	0	0	1	0	12	32				
NFKB2	4791	broad.mit.edu	37	10	104161543	104161543	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:104161543G>C	ENST00000369966.3	+	21	2585	c.2335G>C	c.(2335-2337)Gag>Cag	p.E779Q	NFKB2_ENST00000428099.1_Missense_Mutation_p.E779Q|NFKB2_ENST00000189444.6_Missense_Mutation_p.E779Q	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	779	Death.		Missing (in truncated form EB308).|Missing (in truncated form LB40).|Missing (in truncated form p80HT).		extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	GCAGAACCTGGAGCAGCTGCT	0.602			T	IGH@	B-NHL																																	ENST00000369966.3				Dom	yes		10	10q24	4791	T	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)			L	IGH@		B-NHL		0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23						c.(2335-2337)Gag>Cag		nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)							38.0	39.0	39.0					10																	104161543		1978	4154	6132	SO:0001583	missense	4791				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr10:104161543G>C	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.2335G>C	10.37:g.104161543G>C	ENSP00000358983:p.Glu779Gln					NFKB2_ENST00000189444.6_Missense_Mutation_p.E779Q|NFKB2_ENST00000428099.1_Missense_Mutation_p.E779Q	p.E779Q	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	21	2585	+		Colorectal(252;0.00957)	779		Missing (in truncated form EB308).|Missing (in truncated form LB40).|Missing (in truncated form p80HT).	Death.		A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	c.2335G>C	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	g	14.96	2.691451	0.48097	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.22743	1.94;1.94;1.94	3.77	3.77	0.43336	Death (2);DEATH-like (2);	0.319059	0.28803	N	0.014091	T	0.19685	0.0473	L	0.44542	1.39	0.37892	D	0.930734	B;B	0.29909	0.261;0.261	B;B	0.30251	0.113;0.113	T	0.12091	-1.0561	10	0.25751	T	0.34	.	15.8124	0.78576	0.0:0.0:1.0:0.0	.	779;779	Q00653;A8K9D9	NFKB2_HUMAN;.	Q	779	ENSP00000410256:E779Q;ENSP00000358983:E779Q;ENSP00000189444:E779Q	ENSP00000189444:E779Q	E	+	1	0	NFKB2	104151533	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.240000	0.58701	2.100000	0.63781	0.550000	0.68814	GAG		0.602	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			3	18	0	0	0	1	0	3	18				
ERMN	57471	broad.mit.edu	37	2	158178271	158178271	+	Missense_Mutation	SNP	T	T	C	rs140855571	byFrequency	TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:158178271T>C	ENST00000410096.1	-	3	658	c.367A>G	c.(367-369)Agt>Ggt	p.S123G	ERMN_ENST00000409925.1_3'UTR|ERMN_ENST00000420719.2_Missense_Mutation_p.S103G|ERMN_ENST00000409216.1_3'UTR|ERMN_ENST00000397283.2_Missense_Mutation_p.S136G|ERMN_ENST00000535935.1_Missense_Mutation_p.S17G	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	123					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TCCTGGTTACTGCCACTCAGA	0.448													T|||	21	0.00419329	0.0144	0.0029	5008	,	,		18452	0.0		0.0	False		,,,				2504	0.0					ENST00000410096.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(367-369)Agt>Ggt		ermin, ERM-like protein		T	GLY/SER,GLY/SER	53,3733		0,53,1840	61.0	58.0	59.0		406,367	4.6	0.1	2	dbSNP_134	59	0,8240		0,0,4120	yes	missense,missense	ERMN	NM_001009959.1,NM_020711.1	56,56	0,53,5960	CC,CT,TT		0.0,1.3999,0.4407	benign,benign	136/298,123/285	158178271	53,11973	1893	4120	6013	SO:0001583	missense	57471					cytoplasm|cytoskeleton		g.chr2:158178271T>C	AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"""juxtanodin"", ""ermin"""	610072	"""KIAA1189"""	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.367A>G	2.37:g.158178271T>C	ENSP00000387047:p.Ser123Gly					ERMN_ENST00000535935.1_Missense_Mutation_p.S17G|ERMN_ENST00000397283.2_Missense_Mutation_p.S136G|ERMN_ENST00000409925.1_3'UTR|ERMN_ENST00000420719.2_Missense_Mutation_p.S103G|ERMN_ENST00000409216.1_3'UTR	p.S123G	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN			3	658	-			123					B4DKA6|Q9ULN1	Missense_Mutation	SNP	ENST00000410096.1	37	c.367A>G	CCDS46431.1	4	0.0018315018315018315	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	T	2.557	-0.302659	0.05495	0.013999	0.0	ENSG00000136541	ENST00000410096;ENST00000397283;ENST00000535935;ENST00000420719;ENST00000420317;ENST00000411762	.	.	.	5.77	4.6	0.57074	.	0.542777	0.19446	N	0.114063	T	0.17916	0.0430	L	0.27053	0.805	0.09310	N	1	P;P;P	0.38078	0.617;0.617;0.617	B;B;B	0.33960	0.173;0.173;0.173	T	0.05419	-1.0886	9	0.44086	T	0.13	-24.6087	11.0782	0.48045	0.0:0.0:0.1548:0.8452	.	103;136;123	B4DIZ1;Q8TAM6-2;Q8TAM6	.;.;ERMIN_HUMAN	G	123;136;17;103;123;123	.	ENSP00000380453:S136G	S	-	1	0	ERMN	157886517	0.052000	0.20516	0.052000	0.19188	0.142000	0.21351	2.060000	0.41394	0.985000	0.38656	0.459000	0.35465	AGT		0.448	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332659.1	NM_001009959		3	26	0	0	0	1	0	3	26				
GSTA2	2939	broad.mit.edu	37	6	52622709	52622709	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:52622709G>A	ENST00000493422.1	-	2	192	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	13	GST N-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	ATTCTGCCCCGTATATTGGAG	0.468																																						ENST00000493422.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(37-39)Cgg>Tgg		glutathione S-transferase alpha 2	Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)						120.0	112.0	115.0					6																	52622709		2203	4300	6503	SO:0001583	missense	2939				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52622709G>A	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.37C>T	6.37:g.52622709G>A	ENSP00000420168:p.Arg13Trp						p.R13W	NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN			2	192	-	Lung NSC(77;0.118)		13			GST N-terminal.		Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	ENST00000493422.1	37	c.37C>T	CCDS4944.1	.	.	.	.	.	.	.	.	.	.	g	11.51	1.660578	0.29515	.	.	ENSG00000244067	ENST00000493422	T	0.10005	2.92	2.81	1.58	0.23477	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.35856	0.0946	H	0.98833	4.345	0.45066	D	0.998081	D	0.89917	1.0	D	0.83275	0.996	T	0.46020	-0.9221	10	0.87932	D	0	.	7.1855	0.25797	0.0:0.0:0.4286:0.5714	.	13	P09210	GSTA2_HUMAN	W	13	ENSP00000420168:R13W	ENSP00000420168:R13W	R	-	1	2	GSTA2	52730668	0.996000	0.38824	0.321000	0.25320	0.085000	0.17905	2.802000	0.47916	1.317000	0.45149	0.184000	0.17185	CGG		0.468	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		17	31	0	0	0	1	0	17	31				
CACNA1D	776	broad.mit.edu	37	3	53837488	53837488	+	Missense_Mutation	SNP	G	G	A	rs139829141		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:53837488G>A	ENST00000350061.5	+	44	5985	c.5474G>A	c.(5473-5475)cGg>cAg	p.R1825Q	CACNA1D_ENST00000288139.4_Missense_Mutation_p.R1845Q|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1801Q|CACNA1D_ENST00000544977.1_Missense_Mutation_p.R204Q	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1825					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACTATTTGCCGGGAAGACCCA	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		19958	0.001		0.0	False		,,,				2504	0.0					ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(5533-5535)cGg>cAg		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)	G	GLN/ARG,GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	140.0	142.0	141.0		5534,5402,5474	4.5	1.0	3	dbSNP_134	141	0,8600		0,0,4300	no	missense,missense,missense	CACNA1D	NM_000720.2,NM_001128839.1,NM_001128840.1	43,43,43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign,benign	1845/2182,1801/2138,1825/2162	53837488	2,13004	2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53837488G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5474G>A	3.37:g.53837488G>A	ENSP00000288133:p.Arg1825Gln					CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1801Q|CACNA1D_ENST00000350061.5_Missense_Mutation_p.R1825Q|CACNA1D_ENST00000544977.1_Missense_Mutation_p.R204Q	p.R1845Q	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	45	5652	+			1825					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.5534G>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431851	0.43122	4.54E-4	0.0	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000544977	D;D;D;D	0.96300	-3.95;-3.97;-3.89;-3.96	4.54	4.54	0.55810	.	3.150850	0.01374	N	0.012691	D	0.93132	0.7813	L	0.27053	0.805	0.43667	D	0.99609	B;B;B;B	0.21520	0.02;0.026;0.057;0.034	B;B;B;B	0.17433	0.002;0.018;0.003;0.008	T	0.67968	-0.5533	10	0.02654	T	1	.	15.8561	0.78979	0.0:0.0:1.0:0.0	.	1801;1518;1825;1845	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	Q	1825;1845;1801;1518;204	ENSP00000288133:R1825Q;ENSP00000288139:R1845Q;ENSP00000409174:R1801Q;ENSP00000418014:R1518Q	ENSP00000288139:R1845Q	R	+	2	0	CACNA1D	53812528	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	5.652000	0.67959	2.248000	0.74166	0.542000	0.68232	CGG		0.557	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		34	91	0	0	0	1	0	34	91				
ZACN	353174	broad.mit.edu	37	17	74076447	74076447	+	Silent	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:74076447C>G	ENST00000334586.5	+	5	569	c.486C>G	c.(484-486)ctC>ctG	p.L162L	ZACN_ENST00000392503.2_Intron|EXOC7_ENST00000591724.1_5'Flank	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	162					ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)	p.L161L(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						TTGAGCTCCTCCACTTCCCCC	0.642																																						ENST00000334586.5																			1	Substitution - coding silent(1)	p.L161L(1)	endometrium(1)	breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(484-486)ctC>ctG		zinc activated ligand-gated ion channel							99.0	91.0	93.0					17																	74076447		2203	4300	6503	SO:0001819	synonymous_variant	353174				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr17:74076447C>G	AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.486C>G	17.37:g.74076447C>G						ZACN_ENST00000392503.2_Intron	p.L162L	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN			5	569	+			162					Q2TB29|Q6ZWK3|Q86YW4	Silent	SNP	ENST00000334586.5	37	c.486C>G	CCDS11740.2																																																																																				0.642	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		17	53	0	0	0	1	0	17	53				
RNLS	55328	broad.mit.edu	37	10	90342943	90342943	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:90342943G>A	ENST00000331772.4	-	1	27	c.5C>T	c.(4-6)gCg>gTg	p.A2V	RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Missense_Mutation_p.A2V|Y_RNA_ENST00000364678.1_RNA|RNLS_ENST00000371947.3_Missense_Mutation_p.A2V	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	2					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						CAGCACCTGCGCCATGGCGAG	0.672											OREG0020353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000371947.3																			0				breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						c.(4-6)gCg>gTg		renalase, FAD-dependent amine oxidase							39.0	39.0	39.0					10																	90342943		2203	4300	6503	SO:0001583	missense	55328					extracellular region	oxidoreductase activity	g.chr10:90342943G>A	BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.5C>T	10.37:g.90342943G>A	ENSP00000332530:p.Ala2Val		OREG0020353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1274	RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Missense_Mutation_p.A2V|RNLS_ENST00000331772.4_Missense_Mutation_p.A2V	p.A2V	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN			1	1344	-			2					Q9BS33|Q9NUP8	Missense_Mutation	SNP	ENST00000331772.4	37	c.5C>T	CCDS31239.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163102	0.57476	.	.	ENSG00000184719	ENST00000371947;ENST00000437752;ENST00000331772	T;T;T	0.47528	2.99;0.84;0.88	4.99	1.98	0.26296	.	0.537042	0.18326	N	0.144629	T	0.22085	0.0532	L	0.31207	0.915	0.21897	N	0.999481	B;P;P	0.47106	0.113;0.725;0.89	B;B;B	0.18871	0.012;0.01;0.023	T	0.15178	-1.0446	10	0.35671	T	0.21	.	6.5162	0.22248	0.1641:0.0:0.689:0.1469	.	2;2;2	B4DJW3;Q5VYX0;Q5VYX0-2	.;RNLS_HUMAN;.	V	2	ENSP00000361015:A2V;ENSP00000387577:A2V;ENSP00000332530:A2V	ENSP00000332530:A2V	A	-	2	0	RNLS	90332923	0.997000	0.39634	0.998000	0.56505	0.703000	0.40648	0.856000	0.27818	0.446000	0.26666	0.462000	0.41574	GCG		0.672	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049250.1	NM_018363		4	27	0	0	0	1	0	4	27				
DIS3	22894	broad.mit.edu	37	13	73345252	73345252	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr13:73345252G>A	ENST00000377767.4	-	12	1737	c.1637C>T	c.(1636-1638)tCt>tTt	p.S546F	DIS3_ENST00000377780.4_Missense_Mutation_p.S516F|DIS3_ENST00000545453.1_Missense_Mutation_p.S384F	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	546					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ACACAAGTTAGAGCTAAGCAA	0.353										Multiple Myeloma(4;0.011)																												ENST00000377767.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35						c.(1636-1638)tCt>tTt		DIS3 mitotic control homolog (S. cerevisiae)							118.0	114.0	115.0					13																	73345252		2203	4300	6503	SO:0001583	missense	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73345252G>A	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1637C>T	13.37:g.73345252G>A	ENSP00000366997:p.Ser546Phe	Multiple Myeloma(4;0.011)				DIS3_ENST00000545453.1_Missense_Mutation_p.S384F|DIS3_ENST00000377780.4_Missense_Mutation_p.S516F	p.S546F	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	12	1737	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	546					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	c.1637C>T	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839406	0.91117	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.45276	0.9;0.9;0.9	5.41	5.41	0.78517	Ribonuclease II/R (2);	0.000000	0.85682	D	0.000000	T	0.73140	0.3549	M	0.90977	3.165	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.73380	0.967;0.98	T	0.79417	-0.1812	10	0.87932	D	0	.	19.57	0.95407	0.0:0.0:1.0:0.0	.	516;546	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	F	546;516;384	ENSP00000366997:S546F;ENSP00000367011:S516F;ENSP00000440058:S384F	ENSP00000366997:S546F	S	-	2	0	DIS3	72243253	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.751000	0.85126	2.702000	0.92279	0.563000	0.77884	TCT		0.353	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		4	10	0	0	0	1	0	4	10				
SLC22A6	9356	broad.mit.edu	37	11	62744824	62744824	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:62744824C>G	ENST00000377871.3	-	9	1663	c.1397G>C	c.(1396-1398)cGa>cCa	p.R466P	SLC22A6_ENST00000458333.2_Intron|SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000360421.4_Missense_Mutation_p.R466P|SLC22A6_ENST00000421062.2_Intron	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	466					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GCTGCCCACTCGGGCCATGGT	0.622																																						ENST00000377871.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1396-1398)cGa>cCa		solute carrier family 22 (organic anion transporter), member 6							52.0	40.0	44.0					11																	62744824		2201	4298	6499	SO:0001583	missense	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62744824C>G	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1397G>C	11.37:g.62744824C>G	ENSP00000367102:p.Arg466Pro					SLC22A6_ENST00000458333.2_Intron|SLC22A6_ENST00000360421.4_Missense_Mutation_p.R466P|SLC22A6_ENST00000421062.2_Intron	p.R466P	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN			9	1663	-			466					A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	c.1397G>C	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635017	0.87760	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871	T;T	0.74002	-0.8;-0.8	4.76	4.76	0.60689	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90858	0.7128	H	0.97390	3.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.93775	0.7078	10	0.72032	D	0.01	.	15.2981	0.73925	0.0:1.0:0.0:0.0	.	466;466	Q4U2R8;Q4U2R8-2	S22A6_HUMAN;.	P	466;445;466	ENSP00000353597:R466P;ENSP00000367102:R466P	ENSP00000353597:R466P	R	-	2	0	SLC22A6	62501400	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.465000	0.80898	2.440000	0.82611	0.561000	0.74099	CGA		0.622	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		5	23	0	0	0	1	0	5	23				
UBQLN4	56893	broad.mit.edu	37	1	156021499	156021499	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:156021499C>T	ENST00000368309.3	-	2	350	c.258G>A	c.(256-258)caG>caA	p.Q86Q	UBQLN4_ENST00000472638.1_5'UTR	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	86	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GAACTTACTTCTGAGGGGTCT	0.522																																						ENST00000368309.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16						c.(256-258)caG>caA		ubiquilin 4							115.0	93.0	100.0					1																	156021499		2203	4300	6503	SO:0001819	synonymous_variant	56893					cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	g.chr1:156021499C>T	BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"""Ubiquilin family"""	1237	protein-coding gene	gene with protein product	"""ataxin-1 ubiquitin-like interacting protein"""	605440	"""chromosome 1 open reading frame 6"""	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.258G>A	1.37:g.156021499C>T						UBQLN4_ENST00000368307.1_Silent_p.Q86Q|UBQLN4_ENST00000472638.1_5'UTR	p.Q86Q	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN			2	350	-	Hepatocellular(266;0.133)|all_neural(408;0.195)		86			Ubiquitin-like.		A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Silent	SNP	ENST00000368309.3	37	c.258G>A	CCDS1127.1																																																																																				0.522	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046193.1	NM_020131		12	26	0	0	0	1	0	12	26				
NACA	4666	broad.mit.edu	37	12	57112437	57112437	+	Silent	SNP	C	C	T	rs555857821		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:57112437C>T	ENST00000454682.1	-	3	3158	c.2877G>A	c.(2875-2877)ccG>ccA	p.P959P	NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	959	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P959P(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGGCCCATTTCGGGGATGGGG	0.657			T	BCL6	NHL								-|||	1	0.000199681	0.0	0.0014	5008	,	,		7324	0.0		0.0	False		,,,				2504	0.0					ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		1	Substitution - coding silent(1)	p.P959P(1)	prostate(1)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(2875-2877)ccG>ccA		nascent polypeptide-associated complex alpha subunit							29.0	37.0	35.0					12																	57112437		1415	3202	4617	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57112437C>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.2877G>A	12.37:g.57112437C>T						NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron	p.P959P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3158	-			0						Silent	SNP	ENST00000454682.1	37	c.2877G>A																																																																																					0.657	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		11	31	0	0	0	1	0	11	31				
SLC26A5	375611	broad.mit.edu	37	7	103029457	103029457	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:103029457C>G	ENST00000306312.3	-	14	1773	c.1512G>C	c.(1510-1512)caG>caC	p.Q504H	SLC26A5_ENST00000393735.2_Missense_Mutation_p.Q504H|SLC26A5_ENST00000393727.1_Missense_Mutation_p.Q504H|SLC26A5_ENST00000393723.1_Missense_Mutation_p.Q472H|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393730.1_Missense_Mutation_p.Q472H|SLC26A5_ENST00000393729.1_Missense_Mutation_p.Q467H|SLC26A5_ENST00000432958.2_Missense_Mutation_p.Q472H|SLC26A5_ENST00000339444.6_Missense_Mutation_p.Q504H|SLC26A5_ENST00000356767.4_Intron	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	504					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GCACTCACCTCTGTGTTCTGT	0.468																																						ENST00000306312.3																			0				endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						c.(1510-1512)caG>caC		solute carrier family 26 (anion exchanger), member 5							98.0	81.0	87.0					7																	103029457		2203	4300	6503	SO:0001583	missense	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103029457C>G	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1512G>C	7.37:g.103029457C>G	ENSP00000304783:p.Gln504His					SLC26A5_ENST00000393730.1_Missense_Mutation_p.Q472H|SLC26A5_ENST00000432958.2_Missense_Mutation_p.Q472H|SLC26A5_ENST00000393735.2_Missense_Mutation_p.Q504H|SLC26A5_ENST00000339444.6_Missense_Mutation_p.Q504H|SLC26A5_ENST00000393729.1_Missense_Mutation_p.Q467H|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393723.1_Missense_Mutation_p.Q472H|SLC26A5_ENST00000393727.1_Missense_Mutation_p.Q504H	p.Q504H	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN			14	1773	-			504					Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	c.1512G>C	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274287	0.59649	.	.	ENSG00000170615	ENST00000339444;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D	0.94576	-3.33;-3.41;-3.38;-3.46;-3.46;-3.26;-3.38;-3.44	5.35	3.21	0.36854	.	0.000000	0.85682	D	0.000000	D	0.96005	0.8699	M	0.73430	2.235	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.999;0.999	D	0.95082	0.8214	10	0.87932	D	0	.	6.552	0.22440	0.0:0.6266:0.0:0.3734	.	504;472;504;504	P58743;Q496J2;P58743-3;P58743-2	S26A5_HUMAN;.;.;.	H	504;504;504;472;472;467;504;472	ENSP00000342396:Q504H;ENSP00000377336:Q504H;ENSP00000304783:Q504H;ENSP00000377331:Q472H;ENSP00000389733:Q472H;ENSP00000377330:Q467H;ENSP00000377328:Q504H;ENSP00000377324:Q472H	ENSP00000304783:Q504H	Q	-	3	2	SLC26A5	102816693	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.076000	0.41548	1.251000	0.43983	-0.259000	0.10710	CAG		0.468	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		8	27	0	0	0	1	0	8	27				
IGLV7-43	28776	broad.mit.edu	37	22	22749593	22749593	+	RNA	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr22:22749593C>T	ENST00000390298.2	+	0	151									immunoglobulin lambda variable 7-43																		CAGTCACTCTCACCTGTGCTT	0.498																																						ENST00000390298.2																			0																				65.0	63.0	64.0					22																	22749593		1928	4142	6070			28776							g.chr22:22749593C>T	X14614		22q11.2	2012-02-08			ENSG00000211652	ENSG00000211652		"""Immunoglobulins / IGL locus"""	5929	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151053		22.37:g.22749593C>T														0	151	+									RNA	SNP	ENST00000390298.2	37																																																																																						0.498	IGLV7-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321113.1	NG_000002		4	26	0	0	0	1	0	4	26				
MRPS22	56945	broad.mit.edu	37	3	139067062	139067062	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:139067062G>C	ENST00000495075.1	+	5	832	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	MRPS22_ENST00000478464.1_Missense_Mutation_p.E93Q|MRPS22_ENST00000310776.4_Missense_Mutation_p.E134Q|MRPS22_ENST00000465056.1_Missense_Mutation_p.E133Q|RP11-219D15.3_ENST00000608472.1_RNA			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	134						mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						AGTTCTGGAAGAGCGAGTACC	0.358																																						ENST00000495075.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(400-402)Gag>Cag		mitochondrial ribosomal protein S22							93.0	88.0	90.0					3																	139067062		2203	4300	6503	SO:0001583	missense	56945					mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr3:139067062G>C	AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"""Mitochondrial ribosomal proteins / small subunits"""	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.400G>C	3.37:g.139067062G>C	ENSP00000418008:p.Glu134Gln					MRPS22_ENST00000465056.1_Missense_Mutation_p.E133Q|MRPS22_ENST00000478464.1_Missense_Mutation_p.E93Q|MRPS22_ENST00000310776.4_Missense_Mutation_p.E134Q	p.E134Q			P82650	RT22_HUMAN			5	832	+			134					Q9H3I1	Missense_Mutation	SNP	ENST00000495075.1	37	c.400G>C	CCDS3107.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303918	0.81136	.	.	ENSG00000175110	ENST00000495075;ENST00000310776;ENST00000465056;ENST00000465373;ENST00000478464	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	5.87	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.88407	0.6428	L	0.61387	1.9	0.58432	D	0.999997	D;D;D	0.59357	0.981;0.981;0.985	P;P;D	0.63192	0.857;0.857;0.912	D	0.88118	0.2830	10	0.44086	T	0.13	-19.6333	14.7436	0.69474	0.0692:0.0:0.9308:0.0	.	93;133;134	G5E9W7;G5E9V5;P82650	.;.;RT22_HUMAN	Q	134;134;133;139;93	ENSP00000418008:E134Q;ENSP00000310785:E134Q;ENSP00000418233:E133Q;ENSP00000419920:E139Q;ENSP00000419303:E93Q	ENSP00000310785:E134Q	E	+	1	0	MRPS22	140549752	1.000000	0.71417	0.998000	0.56505	0.817000	0.46193	6.906000	0.75719	1.492000	0.48499	0.655000	0.94253	GAG		0.358	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358120.1	NM_020191		7	20	0	0	0	1	0	7	20				
ZNF71	58491	broad.mit.edu	37	19	57133835	57133835	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:57133835C>T	ENST00000328070.6	+	3	1414	c.1180C>T	c.(1180-1182)Cgc>Tgc	p.R394C		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R394S(1)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTTCACGGGGCGCTCGTCCCT	0.627																																						ENST00000328070.6																			1	Substitution - Missense(1)	p.R394S(1)	prostate(1)	endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1180-1182)Cgc>Tgc		zinc finger protein 71							88.0	70.0	76.0					19																	57133835		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133835C>T	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.1180C>T	19.37:g.57133835C>T	ENSP00000328245:p.Arg394Cys						p.R394C	NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	1414	+			394					Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.1180C>T	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862843	0.32884	.	.	ENSG00000197951	ENST00000328070	T	0.08634	3.07	3.58	2.45	0.29901	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13200	0.0320	L	0.44542	1.39	0.09310	N	1	D	0.89917	1.0	P	0.54815	0.761	T	0.12837	-1.0532	9	0.38643	T	0.18	.	8.5263	0.33307	0.3659:0.6341:0.0:0.0	.	394	Q9NQZ8	ZNF71_HUMAN	C	394	ENSP00000328245:R394C	ENSP00000328245:R394C	R	+	1	0	ZNF71	61825647	0.000000	0.05858	0.994000	0.49952	0.995000	0.86356	-0.497000	0.06428	1.815000	0.52974	0.561000	0.74099	CGC		0.627	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		15	52	0	0	0	1	0	15	52				
RASD1	51655	broad.mit.edu	37	17	17399376	17399376	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:17399376G>A	ENST00000225688.3	-	1	331	c.120C>T	c.(118-120)atC>atT	p.I40I	RASD1_ENST00000579152.1_Silent_p.I40I	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	40					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide mediated signal transduction (GO:0007263)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						AGCGCGACACGATGGCCGTCT	0.617																																						ENST00000225688.3																			0				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(118-120)atC>atT		RAS, dexamethasone-induced 1							135.0	113.0	121.0					17																	17399376		2203	4300	6503	SO:0001819	synonymous_variant	51655				G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity	g.chr17:17399376G>A	AF069506	CCDS11185.1, CCDS58519.1	17p11.2	2014-05-09			ENSG00000108551	ENSG00000108551			15828	protein-coding gene	gene with protein product	"""ras-related protein"", ""dexamethasone-induced ras-related protein 1"", ""activator of G protein signaling"""	605550				10947988	Standard	NM_001199989		Approved	DEXRAS1, AGS1	uc002gri.3	Q9Y272	OTTHUMG00000059292	ENST00000225688.3:c.120C>T	17.37:g.17399376G>A						RASD1_ENST00000579152.1_Silent_p.I40I	p.I40I	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN			1	331	-			40					B2R709|B4DFF4|Q9NYB4	Silent	SNP	ENST00000225688.3	37	c.120C>T	CCDS11185.1																																																																																				0.617	RASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131668.1	NM_016084		24	48	0	0	0	1	0	24	48				
CPAMD8	27151	broad.mit.edu	37	19	17008587	17008587	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:17008587G>A	ENST00000443236.1	-	39	5152	c.5121C>T	c.(5119-5121)aaC>aaT	p.N1707N	CPAMD8_ENST00000597335.1_5'Flank	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1660	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGGTGCTGACGTTGTAGAAGC	0.746																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(5119-5121)aaC>aaT		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							19.0	28.0	25.0					19																	17008587		1980	4136	6116	SO:0001819	synonymous_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17008587G>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.5121C>T	19.37:g.17008587G>A							p.N1707N	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			39	5152	-			1660			Kazal-like.		Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	c.5121C>T	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.602191	0.28534	.	.	ENSG00000160111	ENST00000443236	.	.	.	3.08	-3.39	0.04868	.	.	.	.	.	T	0.52175	0.1718	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50874	-0.8776	4	.	.	.	.	9.077	0.36527	0.5361:0.0:0.4639:0.0	.	.	.	.	M	1718	.	.	T	-	2	0	CPAMD8	16869587	0.481000	0.25941	0.979000	0.43373	0.876000	0.50452	-0.459000	0.06728	-0.413000	0.07507	0.449000	0.29647	ACG		0.746	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		3	4	0	0	0	1	0	3	4				
ZBTB5	9925	broad.mit.edu	37	9	37441150	37441150	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:37441150C>G	ENST00000307750.4	-	2	1587	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	467					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		AATGGGTTCTCTACATGGGAG	0.597																																						ENST00000307750.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						c.(1399-1401)Gag>Cag		zinc finger and BTB domain containing 5							31.0	31.0	31.0					9																	37441150		2203	4300	6503	SO:0001583	missense	9925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:37441150C>G	AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.1399G>C	9.37:g.37441150C>G	ENSP00000307604:p.Glu467Gln						p.E467Q	NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN		GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)	2	1587	-			467						Missense_Mutation	SNP	ENST00000307750.4	37	c.1399G>C	CCDS6610.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600911	0.46423	.	.	ENSG00000168795	ENST00000307750	T	0.08896	3.04	5.45	5.45	0.79879	.	0.216774	0.44285	D	0.000477	T	0.06962	0.0177	N	0.12182	0.205	0.53688	D	0.99997	P	0.52316	0.952	B	0.43445	0.42	T	0.50709	-0.8796	10	0.17832	T	0.49	.	19.556	0.95347	0.0:1.0:0.0:0.0	.	467	O15062	ZBTB5_HUMAN	Q	467	ENSP00000307604:E467Q	ENSP00000307604:E467Q	E	-	1	0	ZBTB5	37431150	0.996000	0.38824	1.000000	0.80357	0.985000	0.73830	3.107000	0.50329	2.861000	0.98227	0.650000	0.86243	GAG		0.597	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	NM_014872		15	14	0	0	0	1	0	15	14				
TRPC4	7223	broad.mit.edu	37	13	38211308	38211308	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr13:38211308C>G	ENST00000379705.3	-	11	3523	c.2666G>C	c.(2665-2667)cGa>cCa	p.R889P	TRPC4_ENST00000379679.1_Missense_Mutation_p.R716P|TRPC4_ENST00000358477.2_Missense_Mutation_p.R805P|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000338947.5_Missense_Mutation_p.R716P|TRPC4_ENST00000379681.3_Missense_Mutation_p.R894P|TRPC4_ENST00000447043.1_Missense_Mutation_p.R748P|TRPC4_ENST00000379673.2_Missense_Mutation_p.R740P|TRPC4_ENST00000355779.2_Missense_Mutation_p.R748P			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	889	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGCTAATCCTCGAGATTCCAG	0.468																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(2665-2667)cGa>cCa		transient receptor potential cation channel, subfamily C, member 4							102.0	93.0	96.0					13																	38211308		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38211308C>G	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2666G>C	13.37:g.38211308C>G	ENSP00000369027:p.Arg889Pro					TRPC4_ENST00000338947.5_Missense_Mutation_p.R716P|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000447043.1_Missense_Mutation_p.R748P|TRPC4_ENST00000379679.1_Missense_Mutation_p.R716P|TRPC4_ENST00000355779.2_Missense_Mutation_p.R748P|TRPC4_ENST00000379673.2_Missense_Mutation_p.R740P|TRPC4_ENST00000358477.2_Missense_Mutation_p.R805P|TRPC4_ENST00000379681.3_Missense_Mutation_p.R894P	p.R889P			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	11	3523	-			889			Binds to ITPR1, ITPR2 and ITPR3.		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.2666G>C	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542747	0.27563	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T	0.72051	-0.25;-0.25;-0.05;-0.05;0.13;-0.35;-0.62;0.13	5.3	3.52	0.40303	.	1.058560	0.07445	N	0.898071	T	0.67692	0.2920	N	0.08118	0	0.33623	D	0.605118	B;B;D;P;B;P	0.57899	0.167;0.026;0.981;0.69;0.004;0.564	B;B;D;B;B;B	0.65573	0.053;0.017;0.936;0.318;0.007;0.071	T	0.66372	-0.5940	10	0.51188	T	0.08	-3.9695	7.6023	0.28083	0.0:0.6792:0.0:0.3208	.	748;740;894;716;805;889	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	P	889;894;716;716;748;805;740;748	ENSP00000369027:R889P;ENSP00000369003:R894P;ENSP00000342580:R716P;ENSP00000369001:R716P;ENSP00000348025:R748P;ENSP00000351264:R805P;ENSP00000368995:R740P;ENSP00000414316:R748P	ENSP00000342580:R716P	R	-	2	0	TRPC4	37109308	0.203000	0.23435	0.241000	0.24154	0.951000	0.60555	0.783000	0.26802	1.323000	0.45263	0.563000	0.77884	CGA		0.468	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		12	30	0	0	0	1	0	12	30				
SDS	10993	broad.mit.edu	37	12	113836333	113836333	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:113836333C>A	ENST00000257549.4	-	5	534	c.412G>T	c.(412-414)Gac>Tac	p.D138Y		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	138					gluconeogenesis (GO:0006094)|L-serine catabolic process (GO:0006565)|pyruvate biosynthetic process (GO:0042866)|response to amino acid (GO:0043200)|response to cobalamin (GO:0033590)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)	ATGAGGGGGTCATCAAAGGGG	0.547																																						ENST00000257549.4																			0				large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11						c.(412-414)Gac>Tac		serine dehydratase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						51.0	53.0	52.0					12																	113836333		2203	4300	6503	SO:0001583	missense	10993				gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr12:113836333C>A	J05037	CCDS9169.1	12q24.13	2014-06-24			ENSG00000135094	ENSG00000135094	4.3.1.17		10691	protein-coding gene	gene with protein product	"""L-serine ammonia-lyase"""	182128				2674117	Standard	NM_006843		Approved	SDH	uc001tvg.3	P20132	OTTHUMG00000169554	ENST00000257549.4:c.412G>T	12.37:g.113836333C>A	ENSP00000257549:p.Asp138Tyr						p.D138Y	NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN			5	534	-			138					A8K9P5	Missense_Mutation	SNP	ENST00000257549.4	37	c.412G>T	CCDS9169.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314736	0.60524	.	.	ENSG00000135094;ENSG00000135094;ENSG00000257606	ENST00000257549;ENST00000446302;ENST00000547342	D;D	0.97352	-4.35;-4.35	4.34	3.43	0.39272	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.058921	0.64402	D	0.000004	D	0.97794	0.9276	M	0.91972	3.26	0.45118	D	0.998131	P;P	0.35174	0.488;0.488	P;P	0.44647	0.456;0.456	D	0.98288	1.0512	10	0.87932	D	0	-31.14	13.3924	0.60830	0.0:0.6725:0.3275:0.0	.	138;138	Q8WW81;P20132	.;SDHL_HUMAN	Y	138;138;232	ENSP00000257549:D138Y;ENSP00000449061:D232Y	ENSP00000449061:D232Y	D	-	1	0	SDS;RP11-303O9.2	112320716	0.326000	0.24669	0.919000	0.36401	0.871000	0.50021	0.791000	0.26915	1.008000	0.39264	0.555000	0.69702	GAC		0.547	SDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404790.1	NM_006843		14	36	1	0	4.7546e-09	1	5.23265e-09	14	36				
MYH9	4627	broad.mit.edu	37	22	36708234	36708234	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr22:36708234C>T	ENST00000216181.5	-	14	1818	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	530	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.E530K(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CAGCACTCCTCGTCCAGCAGG	0.637			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		1	Substitution - Missense(1)	p.E530K(1)	prostate(1)	NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(1588-1590)Gag>Aag		myosin, heavy chain 9, non-muscle							81.0	70.0	73.0					22																	36708234		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36708234C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1588G>A	22.37:g.36708234C>T	ENSP00000216181:p.Glu530Lys						p.E530K	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			14	1818	-			530			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.1588G>A	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	35	5.433500	0.96150	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.80653	-1.4	4.57	4.57	0.56435	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.93930	0.8057	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96569	0.9421	10	0.87932	D	0	.	17.3444	0.87306	0.0:1.0:0.0:0.0	.	530	P35579	MYH9_HUMAN	K	394;530	ENSP00000216181:E530K	ENSP00000216181:E530K	E	-	1	0	MYH9	35038180	1.000000	0.71417	0.995000	0.50966	0.939000	0.58152	7.818000	0.86416	2.258000	0.74832	0.561000	0.74099	GAG		0.637	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		15	44	0	0	0	1	0	15	44				
SMG6	23293	broad.mit.edu	37	17	2202460	2202460	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:2202460C>T	ENST00000263073.6	-	2	1637	c.1587G>A	c.(1585-1587)caG>caA	p.Q529Q	SMG6_ENST00000544865.1_Silent_p.Q498Q	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	529					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCACTGGGTACTGTAGAGGGT	0.532																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1492-1494)caG>caA		SMG6 nonsense mediated mRNA decay factor							137.0	143.0	141.0					17																	2202460		2203	4300	6503	SO:0001819	synonymous_variant	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2202460C>T	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1587G>A	17.37:g.2202460C>T						SMG6_ENST00000263073.5_Silent_p.Q529Q	p.Q498Q			Q86US8	EST1A_HUMAN			2	2004	-			529			Interaction with telomeric DNA.		B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	c.1494G>A	CCDS11016.1																																																																																				0.532	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			41	103	0	0	0	1	0	41	103				
PHLDB1	23187	broad.mit.edu	37	11	118514626	118514626	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:118514626G>A	ENST00000361417.2	+	15	3397	c.2986G>A	c.(2986-2988)Gtg>Atg	p.V996M	PHLDB1_ENST00000524713.1_Missense_Mutation_p.V139M|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Missense_Mutation_p.V32M|PHLDB1_ENST00000356063.5_Missense_Mutation_p.V949M	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	996										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		cCAGCTCAGCGTGGCTACCCT	0.687																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(2986-2988)Gtg>Atg		pleckstrin homology-like domain, family B, member 1																																				SO:0001583	missense	23187							g.chr11:118514626G>A		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2986G>A	11.37:g.118514626G>A	ENSP00000354498:p.Val996Met					PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.V949M|PHLDB1_ENST00000524713.1_Missense_Mutation_p.V139M|PHLDB1_ENST00000527898.1_Missense_Mutation_p.V32M	p.V996M	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	15	3397	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	996					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.2986G>A	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659190	0.67586	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063;ENST00000527898;ENST00000524713	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.3	4.39	0.52855	.	0.480218	0.22483	N	0.059466	T	0.54271	0.1848	L	0.43152	1.355	0.25773	N	0.984811	D;D;P;P;D;D;B	0.89917	1.0;0.998;0.625;0.625;1.0;0.993;0.301	D;P;B;B;D;P;B	0.80764	0.994;0.906;0.097;0.165;0.956;0.872;0.094	T	0.42666	-0.9438	10	0.34782	T	0.22	-13.3668	6.0987	0.20035	0.0728:0.2056:0.5956:0.126	.	134;139;360;740;949;949;996	B7Z2B9;B4DK17;B0YJ65;Q5W9G0;Q86UU1-3;Q86UU1-2;Q86UU1	.;.;.;.;.;.;PHLB1_HUMAN	M	996;755;360;949;32;139	ENSP00000354498:V996M;ENSP00000348359:V949M;ENSP00000435388:V32M;ENSP00000434905:V139M	ENSP00000348359:V949M	V	+	1	0	PHLDB1	118019836	0.998000	0.40836	0.996000	0.52242	0.985000	0.73830	2.466000	0.45084	1.248000	0.43934	-0.122000	0.15005	GTG		0.687	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		9	26	0	0	0	1	0	9	26				
BABAM1	29086	broad.mit.edu	37	19	17382437	17382437	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:17382437C>T	ENST00000359435.4	+	3	510	c.317C>T	c.(316-318)tCa>tTa	p.S106L	BABAM1_ENST00000595632.1_Missense_Mutation_p.S106L|BABAM1_ENST00000598188.1_Missense_Mutation_p.S106L|BABAM1_ENST00000447614.2_Missense_Mutation_p.S106L|BABAM1_ENST00000601043.1_Missense_Mutation_p.S106L|CTD-2278I10.6_ENST00000596542.1_Intron|BABAM1_ENST00000448635.2_3'UTR	NM_001033549.1	NP_001028721.1	Q9NWV8	BABA1_HUMAN	BRISC and BRCA1 A complex member 1	106	VWFA-like.				chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						GAGGAAATGTCACTGCCAAAG	0.557																																						ENST00000359435.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(316-318)tCa>tTa		BRISC and BRCA1 A complex member 1							85.0	86.0	85.0					19																	17382437		2083	4210	6293	SO:0001583	missense	29086				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding	g.chr19:17382437C>T	AK000578	CCDS46012.1, CCDS74310.1	19p13.11	2011-02-21	2011-02-21	2011-01-31	ENSG00000105393	ENSG00000105393			25008	protein-coding gene	gene with protein product	"""Mediator of Rap80 Interactions and Targeting 40 kD"", ""new component of the BRCA1 A complex"""	612766	"""chromosome 19 open reading frame 62"""	C19orf62		11042152	Standard	NM_001288756		Approved	FLJ20571, HSPC142, NBA1, MERIT40	uc002nfv.3	Q9NWV8		ENST00000359435.4:c.317C>T	19.37:g.17382437C>T	ENSP00000352408:p.Ser106Leu					CTD-2278I10.6_ENST00000596542.1_Intron|BABAM1_ENST00000595632.1_Missense_Mutation_p.S106L|BABAM1_ENST00000447614.2_Missense_Mutation_p.S106L|BABAM1_ENST00000448635.2_3'UTR|BABAM1_ENST00000598188.1_Missense_Mutation_p.S106L|BABAM1_ENST00000601043.1_Missense_Mutation_p.S106L	p.S106L	NM_001033549.1	NP_001028721.1	Q9NWV8	BABA1_HUMAN			3	510	+			106			VWFA-like.		A8MQT0|B4DRY9|B4DVR1|Q6FIA0|Q9P018	Missense_Mutation	SNP	ENST00000359435.4	37	c.317C>T	CCDS46012.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229089	0.79688	.	.	ENSG00000105393	ENST00000359435;ENST00000447614;ENST00000448635	.	.	.	4.6	3.57	0.40892	.	0.139464	0.49305	D	0.000152	T	0.58495	0.2126	L	0.51422	1.61	0.51482	D	0.999929	P;B	0.51933	0.949;0.341	P;B	0.50659	0.647;0.085	T	0.61282	-0.7094	9	0.66056	D	0.02	-16.4282	10.1073	0.42541	0.0:0.9026:0.0:0.0974	.	106;106	Q9NWV8-3;Q9NWV8	.;BABA1_HUMAN	L	106	.	ENSP00000352408:S106L	S	+	2	0	BABAM1	17243437	1.000000	0.71417	0.695000	0.30226	0.924000	0.55760	6.767000	0.74975	1.162000	0.42619	0.655000	0.94253	TCA		0.557	BABAM1-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463471.1	NM_014173		8	12	0	0	0	1	0	8	12				
SUPT20H	55578	broad.mit.edu	37	13	37602362	37602362	+	Silent	SNP	A	A	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr13:37602362A>T	ENST00000350612.6	-	14	1294	c.1074T>A	c.(1072-1074)ctT>ctA	p.L358L	SUPT20H_ENST00000542180.1_Silent_p.L322L|SUPT20H_ENST00000464744.1_Silent_p.L359L|SUPT20H_ENST00000356185.3_Silent_p.L359L|SUPT20H_ENST00000360252.4_Silent_p.L359L|SUPT20H_ENST00000475892.1_Silent_p.L358L	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	358					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										GTGGATCTCCAAGCGACTGCA	0.383																																						ENST00000360252.4																			0											c.(1075-1077)ctT>ctA		suppressor of Ty 20 homolog (S. cerevisiae)							157.0	144.0	148.0					13																	37602362		2202	4300	6502	SO:0001819	synonymous_variant	55578							g.chr13:37602362A>T	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.1074T>A	13.37:g.37602362A>T						SUPT20H_ENST00000356185.3_Silent_p.L359L|SUPT20H_ENST00000464744.1_Silent_p.L359L|SUPT20H_ENST00000542180.1_Silent_p.L322L|SUPT20H_ENST00000350612.6_Silent_p.L358L|SUPT20H_ENST00000475892.1_Silent_p.L358L	p.L359L	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1					14	1324	-								E7ER46|Q71RF3|Q9Y6A6	Silent	SNP	ENST00000350612.6	37	c.1077T>A	CCDS31959.1																																																																																				0.383	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		3	20	0	0	0	1	0	3	20				
KCNG2	26251	broad.mit.edu	37	18	77623925	77623925	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr18:77623925C>T	ENST00000316249.3	+	1	258	c.258C>T	c.(256-258)cgC>cgT	p.R86R		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	86					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CGCTTTTGCGCGCAGGGAAGC	0.706																																						ENST00000316249.3																			0				breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(256-258)cgC>cgT		potassium voltage-gated channel, subfamily G, member 2							13.0	12.0	12.0					18																	77623925		2174	4263	6437	SO:0001819	synonymous_variant	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77623925C>T	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.258C>T	18.37:g.77623925C>T							p.R86R	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	1	258	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	86						Silent	SNP	ENST00000316249.3	37	c.258C>T	CCDS12019.1																																																																																				0.706	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		7	10	0	0	0	1	0	7	10				
TP53	7157	broad.mit.edu	37	17	7579722	7579722	+	Splice_Site	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:7579722C>G	ENST00000269305.4	-	3	264		c.e3-1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.L26fs*18(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCAGGAAGTCTGAAAGACAA	0.622		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		10	Whole gene deletion(8)|Complex - frameshift(1)|Deletion - Frameshift(1)	p.0?(8)|p.L26fs*18(1)|p.P13fs*18(1)	bone(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e3-1	Other conserved DNA damage response genes	tumor protein p53							42.0	42.0	42.0					17																	7579722		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579722C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.75-1G>C	17.37:g.7579722C>G		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	3	207	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.180907	0.78677	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.06	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0486	0.53493	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520447	0.984000	0.35163	0.884000	0.34674	0.984000	0.73092	3.386000	0.52492	2.573000	0.86826	0.561000	0.74099	.		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	18	32	0	0	0	1	0	18	32				
SCN1A	6323	broad.mit.edu	37	2	166905425	166905425	+	Silent	SNP	T	T	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:166905425T>C	ENST00000303395.4	-	7	998	c.999A>G	c.(997-999)gcA>gcG	p.A333A	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Silent_p.A333A|SCN1A_ENST00000375405.3_Silent_p.A333A|SCN1A_ENST00000409050.1_Silent_p.A333A|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	333					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACATAGTAGTGCATCTAAAA	0.328																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(997-999)gcA>gcG		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						83.0	78.0	79.0					2																	166905425		2202	4295	6497	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166905425T>C	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.999A>G	2.37:g.166905425T>C						AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.A333A|SCN1A_ENST00000303395.4_Silent_p.A333A|SCN1A_ENST00000375405.3_Silent_p.A333A	p.A333A	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			7	1016	-			333					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.999A>G	CCDS54413.1																																																																																				0.328	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		3	11	0	0	0	1	0	3	11				
CUL7	9820	broad.mit.edu	37	6	43014265	43014265	+	Silent	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:43014265G>C	ENST00000265348.3	-	11	2557	c.2472C>G	c.(2470-2472)ctC>ctG	p.L824L	CUL7_ENST00000478630.1_5'UTR|CUL7_ENST00000535468.1_Silent_p.L908L			Q14999	CUL7_HUMAN	cullin 7	824	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ACAGGTATCTGAGGAACACAT	0.557																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(2722-2724)ctC>ctG		cullin 7							190.0	153.0	165.0					6																	43014265		2203	4300	6503	SO:0001819	synonymous_variant	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43014265G>C	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.2472C>G	6.37:g.43014265G>C						CUL7_ENST00000478630.1_5'UTR|CUL7_ENST00000265348.3_Silent_p.L824L	p.L908L	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		11	2810	-			824			DOC.		B4DYZ0|F5H0L1|Q5T654	Silent	SNP	ENST00000265348.3	37	c.2724C>G	CCDS4881.1																																																																																				0.557	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		7	26	0	0	0	1	0	7	26				
TMEM110	375346	broad.mit.edu	37	3	52877740	52877740	+	Silent	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:52877740G>C	ENST00000355083.5	-	6	760	c.615C>G	c.(613-615)gtC>gtG	p.V205V	TMEM110-MUSTN1_ENST00000504329.1_Silent_p.V205V|TMEM110_ENST00000464769.1_5'Flank	NM_198563.2	NP_940965.1	Q86TL2	TM110_HUMAN	transmembrane protein 110	205						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		CACTGACGTTGACAAAGAAGG	0.502																																						ENST00000355083.5																			0				kidney(1)|large_intestine(1)|lung(2)	4						c.(613-615)gtC>gtG		transmembrane protein 110							185.0	162.0	170.0					3																	52877740		2203	4300	6503	SO:0001819	synonymous_variant	375346							g.chr3:52877740G>C	BC047015	CCDS2866.1	3p21.1	2010-08-13			ENSG00000213533	ENSG00000213533			30526	protein-coding gene	gene with protein product						12477932	Standard	NM_198563		Approved	MGC52022		Q86TL2	OTTHUMG00000150346	ENST00000355083.5:c.615C>G	3.37:g.52877740G>C						TMEM110-MUSTN1_ENST00000504329.1_Silent_p.V205V	p.V205V	NM_198563.2	NP_940965.1				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)	6	760	-									Silent	SNP	ENST00000355083.5	37	c.615C>G	CCDS2866.1																																																																																				0.502	TMEM110-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352949.2	NM_198563		19	42	0	0	0	1	0	19	42				
SMARCA5	8467	broad.mit.edu	37	4	144460010	144460010	+	Silent	SNP	T	T	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:144460010T>C	ENST00000283131.3	+	13	2151	c.1689T>C	c.(1687-1689)ggT>ggC	p.G563G		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	563	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					GTGCTGGTGGTCTTGGCATCA	0.383																																						ENST00000283131.3																		EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1687-1689)ggT>ggC		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5							181.0	171.0	174.0					4																	144460010		2203	4300	6503	SO:0001819	synonymous_variant	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144460010T>C	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.1689T>C	4.37:g.144460010T>C							p.G563G	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN			13	2151	+	all_hematologic(180;0.158)		563			Helicase C-terminal.			Silent	SNP	ENST00000283131.3	37	c.1689T>C	CCDS3761.1																																																																																				0.383	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			25	51	0	0	0	1	0	25	51				
KSR2	283455	broad.mit.edu	37	12	118198822	118198822	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:118198822G>A	ENST00000339824.5	-	4	1707	c.980C>T	c.(979-981)aCg>aTg	p.T327M	KSR2_ENST00000425217.1_Missense_Mutation_p.T298M			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	327					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCACTTGGGCGTGTGGGCCTC	0.652																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(892-894)aCg>aTg		kinase suppressor of ras 2							33.0	41.0	39.0					12																	118198822		1970	4145	6115	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118198822G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.980C>T	12.37:g.118198822G>A	ENSP00000339952:p.Thr327Met					KSR2_ENST00000339824.5_Missense_Mutation_p.T327M	p.T298M	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			4	947	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		327					A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.893C>T		.	.	.	.	.	.	.	.	.	.	G	24.4	4.522540	0.85600	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	T;T	0.55760	0.5;0.5	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.59662	0.2210	L	0.50333	1.59	0.53688	D	0.999977	D	0.67145	0.996	P	0.51170	0.661	T	0.63673	-0.6584	10	0.62326	D	0.03	.	18.3964	0.90501	0.0:0.0:1.0:0.0	.	327	Q6VAB6	KSR2_HUMAN	M	298;327	ENSP00000389715:T298M;ENSP00000339952:T327M	ENSP00000339952:T327M	T	-	2	0	KSR2	116683205	1.000000	0.71417	0.952000	0.39060	0.948000	0.59901	9.444000	0.97578	2.416000	0.81992	0.650000	0.86243	ACG		0.652	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		21	37	0	0	0	1	0	21	37				
SSTR2	6752	broad.mit.edu	37	17	71166180	71166180	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:71166180G>C	ENST00000357585.2	+	2	1091	c.722G>C	c.(721-723)cGa>cCa	p.R241P	SSTR2_ENST00000315332.2_Missense_Mutation_p.R241P|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	241					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	TCTGGAATCCGAGTGGGCTCC	0.483																																						ENST00000357585.2																			0				endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11						c.(721-723)cGa>cCa		somatostatin receptor 2							144.0	142.0	143.0					17																	71166180		2203	4300	6503	SO:0001583	missense	6752				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity	g.chr17:71166180G>C		CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"""GPCR / Class A : Somatostatin receptors"""	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.722G>C	17.37:g.71166180G>C	ENSP00000350198:p.Arg241Pro					SSTR2_ENST00000315332.2_Missense_Mutation_p.R241P|RP11-143K11.5_ENST00000580671.1_RNA	p.R241P	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	1091	+			241					A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Missense_Mutation	SNP	ENST00000357585.2	37	c.722G>C	CCDS11691.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.734871	0.69189	.	.	ENSG00000180616	ENST00000357585;ENST00000315332	T;T	0.72835	-0.69;-0.69	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.058496	0.64402	D	0.000007	T	0.82240	0.4994	L	0.53249	1.67	0.58432	D	0.999999	D	0.71674	0.998	D	0.79108	0.992	T	0.83186	-0.0086	10	0.87932	D	0	.	19.2963	0.94124	0.0:0.0:1.0:0.0	.	241	P30874	SSR2_HUMAN	P	241	ENSP00000350198:R241P;ENSP00000326616:R241P	ENSP00000326616:R241P	R	+	2	0	SSTR2	68677775	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.979000	0.88103	2.657000	0.90304	0.655000	0.94253	CGA		0.483	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1			17	82	0	0	0	1	0	17	82				
ESR1	2099	broad.mit.edu	37	6	152265497	152265497	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:152265497G>T	ENST00000206249.3	+	4	1312	c.950G>T	c.(949-951)aGt>aTt	p.S317I	ESR1_ENST00000440973.1_Missense_Mutation_p.S317I|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000443427.1_Missense_Mutation_p.S317I|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000338799.5_Missense_Mutation_p.S317I|ESR1_ENST00000427531.2_Missense_Mutation_p.S144I|ESR1_ENST00000482101.1_3'UTR	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	317	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	CAGATGGTCAGTGCCTTGTTG	0.547																																						ENST00000440973.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49						c.(949-951)aGt>aTt		estrogen receptor 1	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						120.0	113.0	115.0					6																	152265497		2203	4300	6503	SO:0001583	missense	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152265497G>T	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.950G>T	6.37:g.152265497G>T	ENSP00000206249:p.Ser317Ile					ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000206249.3_Missense_Mutation_p.S317I|ESR1_ENST00000544394.1_Missense_Mutation_p.S144I|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000338799.5_Missense_Mutation_p.S317I|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000443427.1_Missense_Mutation_p.S317I	p.S317I	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	6	1320	+		Ovarian(120;0.0448)	317			Interaction with AKAP13.|Steroid-binding.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	c.950G>T	CCDS5234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.31|15.31	2.796785|2.796785	0.50208|0.50208	.|.	.|.	ENSG00000091831|ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000431590;ENST00000544394|ENST00000427531	D;D;D;D;T|.	0.93133|.	-3.17;-3.17;-3.17;-3.17;1.09|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Nuclear hormone receptor, ligand-binding (2);|.	0.142495|.	0.64402|.	D|.	0.000005|.	T|T	0.72684|0.72684	0.3491|0.3491	M|M	0.74647|0.74647	2.275|2.275	0.46078|0.46078	D|D	0.998856|0.998856	B;B;D;P;D;P|.	0.76494|.	0.259;0.161;0.999;0.933;0.965;0.94|.	B;B;D;P;P;P|.	0.91635|.	0.066;0.018;0.999;0.556;0.725;0.535|.	T|T	0.70945|0.70945	-0.4734|-0.4734	10|5	0.30078|.	T|.	0.28|.	.|.	19.7375|19.7375	0.96212|0.96212	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	221;98;59;316;317;317|.	B0QYW6;E7EVR3;Q9Y2W8;A8KAF4;G4XH65;P03372|.	.;.;.;.;.;ESR1_HUMAN|.	I|L	317;317;98;317;317;245;144|222	ENSP00000405330:S317I;ENSP00000342630:S317I;ENSP00000387500:S317I;ENSP00000206249:S317I;ENSP00000445454:S144I|.	ENSP00000206249:S317I|.	S|V	+|+	2|1	0|0	ESR1|ESR1	152307190|152307190	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.943000|4.943000	0.63554|0.63554	2.680000|2.680000	0.91292|0.91292	0.655000|0.655000	0.94253|0.94253	AGT|GTG		0.547	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			16	51	1	0	4.14922e-12	1	4.60393e-12	16	51				
ERC2	26059	broad.mit.edu	37	3	55984528	55984528	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:55984528C>G	ENST00000288221.6	-	13	2583	c.2328G>C	c.(2326-2328)aaG>aaC	p.K776N		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	776						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)		CATTTTTCTTCTTTTCCAACT	0.433																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(2326-2328)aaG>aaC		ELKS/RAB6-interacting/CAST family member 2							171.0	163.0	165.0					3																	55984528		1944	4148	6092	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55984528C>G	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.2328G>C	3.37:g.55984528C>G	ENSP00000288221:p.Lys776Asn						p.K776N	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)	13	2583	-			776					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.2328G>C	CCDS46851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.51|17.51	3.406588|3.406588	0.62399|0.62399	.|.	.|.	ENSG00000187672|ENSG00000187672	ENST00000288221|ENST00000492584	T|.	0.47177|.	0.85|.	5.96|5.96	1.64|1.64	0.23874|0.23874	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63414|0.63414	0.2509|0.2509	M|M	0.73598|0.73598	2.24|2.24	0.39662|0.39662	D|D	0.970621|0.970621	D|.	0.62365|.	0.991|.	D|.	0.76071|.	0.987|.	T|T	0.61277|0.61277	-0.7095|-0.7095	10|5	0.54805|.	T|.	0.06|.	-29.6934|-29.6934	7.6541|7.6541	0.28365|0.28365	0.0:0.4912:0.0:0.5088|0.0:0.4912:0.0:0.5088	.|.	776|.	O15083|.	ERC2_HUMAN|.	N|T	776|423	ENSP00000288221:K776N|.	ENSP00000288221:K776N|.	K|R	-|-	3|2	2|0	ERC2|ERC2	55959568|55959568	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.771000|1.771000	0.38542|0.38542	0.408000|0.408000	0.25621|0.25621	-0.142000|-0.142000	0.14014|0.14014	AAG|AGA		0.433	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		13	31	0	0	0	1	0	13	31				
FLG	2312	broad.mit.edu	37	1	152283469	152283469	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:152283469G>A	ENST00000368799.1	-	3	3928	c.3893C>T	c.(3892-3894)tCt>tTt	p.S1298F	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	1298	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)			ctgctcccgagaagatccatg	0.552									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.(3892-3894)tCt>tTt		filaggrin							179.0	179.0	179.0					1																	152283469		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.chr1:152283469G>A	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.3893C>T	1.37:g.152283469G>A	ENSP00000357789:p.Ser1298Phe					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S1298F	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3928	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1298			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3893C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	3.368	-0.129074	0.06753	.	.	ENSG00000143631	ENST00000368799	T	0.01821	4.62	2.98	-1.82	0.07857	.	.	.	.	.	T	0.00440	0.0014	L	0.29908	0.895	0.09310	N	1	B	0.34147	0.438	B	0.29862	0.108	T	0.46498	-0.9187	9	0.54805	T	0.06	.	2.1172	0.03716	0.1223:0.352:0.3458:0.1798	.	1298	P20930	FILA_HUMAN	F	1298	ENSP00000357789:S1298F	ENSP00000357789:S1298F	S	-	2	0	FLG	150550093	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.617000	0.05584	-0.172000	0.10779	-1.249000	0.01516	TCT		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		51	166	0	0	0	1	0	51	166				
SERPINB10	5273	broad.mit.edu	37	18	61585204	61585204	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr18:61585204C>G	ENST00000238508.3	+	4	299	c.240C>G	c.(238-240)ttC>ttG	p.F80L		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	80					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				TAAAGGAATTCAACTTGAGCA	0.348																																						ENST00000238508.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24						c.(238-240)ttC>ttG		serpin peptidase inhibitor, clade B (ovalbumin), member 10							55.0	56.0	56.0					18																	61585204		2203	4300	6503	SO:0001583	missense	5273							g.chr18:61585204C>G	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.240C>G	18.37:g.61585204C>G	ENSP00000238508:p.Phe80Leu						p.F80L	NM_005024.1	NP_005015.1					4	299	+		Esophageal squamous(42;0.131)						Q4VAX4|Q4VAX7	Missense_Mutation	SNP	ENST00000238508.3	37	c.240C>G	CCDS11990.1	.	.	.	.	.	.	.	.	.	.	C	0.746	-0.774738	0.02951	.	.	ENSG00000242550	ENST00000238508	D	0.83591	-1.74	5.55	1.67	0.24075	Serpin domain (3);	1.170210	0.06124	N	0.669384	T	0.67869	0.2939	N	0.20986	0.625	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.52741	-0.8535	10	0.06891	T	0.86	.	5.3305	0.15930	0.1512:0.6147:0.0:0.2341	.	80	P48595	SPB10_HUMAN	L	80	ENSP00000238508:F80L	ENSP00000238508:F80L	F	+	3	2	SERPINB10	59736184	0.000000	0.05858	0.003000	0.11579	0.416000	0.31233	-0.373000	0.07494	0.689000	0.31550	0.650000	0.86243	TTC		0.348	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		6	19	0	0	0	1	0	6	19				
CARM1	10498	broad.mit.edu	37	19	11032100	11032100	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:11032100G>A	ENST00000327064.4	+	15	1855	c.1665G>A	c.(1663-1665)atG>atA	p.M555I	CARM1_ENST00000344150.4_Intron	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	555	Transactivation domain. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.M555I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GCTCCATAATGAGCACGGGGA	0.672																																						ENST00000327064.4																			1	Substitution - Missense(1)	p.M555I(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(1663-1665)atG>atA		coactivator-associated arginine methyltransferase 1							99.0	101.0	101.0					19																	11032100		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11032100G>A	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.1665G>A	19.37:g.11032100G>A	ENSP00000325690:p.Met555Ile					CARM1_ENST00000344150.4_Intron	p.M555I	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN			15	1855	+			555			Transactivation domain (By similarity).		A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.1665G>A	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867850	0.72065	.	.	ENSG00000142453	ENST00000327064	T	0.26223	1.75	4.99	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.19644	0.0472	L	0.36672	1.1	0.80722	D	1	B	0.22003	0.063	B	0.18871	0.023	T	0.03969	-1.0988	10	0.22706	T	0.39	-6.1317	12.1924	0.54278	0.0852:0.0:0.9148:0.0	.	555	Q86X55	CARM1_HUMAN	I	555	ENSP00000325690:M555I	ENSP00000325690:M555I	M	+	3	0	CARM1	10893100	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.749000	0.91619	1.084000	0.41184	0.557000	0.71058	ATG		0.672	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		44	107	0	0	0	1	0	44	107				
FBXO48	554251	broad.mit.edu	37	2	68691491	68691491	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:68691491C>T	ENST00000377957.3	-	4	725	c.318G>A	c.(316-318)ctG>ctA	p.L106L		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	106										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						GGTAATTCCTCAGCAGTATCA	0.408																																						ENST00000377957.2																			0				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.(316-318)ctG>ctA		F-box protein 48							159.0	142.0	148.0					2																	68691491		2203	4300	6503	SO:0001819	synonymous_variant	554251							g.chr2:68691491C>T	BC089423	CCDS33213.1	2p13.3	2011-03-09			ENSG00000204923	ENSG00000204923		"""F-boxes /  ""other"""""	33857	protein-coding gene	gene with protein product							Standard	XM_005264407		Approved		uc002seo.3	Q5FWF7	OTTHUMG00000152585	ENST00000377957.3:c.318G>A	2.37:g.68691491C>T							p.L106L	NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN			4	725	-			106						Silent	SNP	ENST00000377957.3	37	c.318G>A	CCDS33213.1																																																																																				0.408	FBXO48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326900.2	NM_001024680		9	31	0	0	0	1	0	9	31				
CDC42EP4	23580	broad.mit.edu	37	17	71281756	71281756	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:71281756G>C	ENST00000335793.3	-	2	1278	c.884C>G	c.(883-885)tCa>tGa	p.S295*	CDC42EP4_ENST00000439510.2_Nonsense_Mutation_p.S225*|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	295					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GCTGCGGGCTGAGCCGGGGCT	0.711																																						ENST00000335793.3																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14						c.(883-885)tCa>tGa		CDC42 effector protein (Rho GTPase binding) 4							16.0	20.0	19.0					17																	71281756		2202	4296	6498	SO:0001587	stop_gained	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71281756G>C	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"""Cdc42 effector protein 4"", ""binder of Rho GTPases 4"""	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.884C>G	17.37:g.71281756G>C	ENSP00000338258:p.Ser295*					CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Nonsense_Mutation_p.S225*	p.S295*			Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		2	1278	-			295					B3KUS7|O95828|Q96FT3	Nonsense_Mutation	SNP	ENST00000335793.3	37	c.884C>G	CCDS11695.1	.	.	.	.	.	.	.	.	.	.	G	36	5.843055	0.97016	.	.	ENSG00000179604	ENST00000335793;ENST00000439510	.	.	.	4.91	4.91	0.64330	.	0.296630	0.24458	N	0.038358	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-6.5602	12.7722	0.57427	0.0:0.0:0.8359:0.1641	.	.	.	.	X	295;225	.	ENSP00000338258:S295X	S	-	2	0	CDC42EP4	68793351	0.967000	0.33354	0.967000	0.41034	0.521000	0.34408	1.980000	0.40618	2.287000	0.76781	0.484000	0.47621	TCA		0.711	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	NM_012121		9	23	0	0	0	1	0	9	23				
KIAA0907	22889	broad.mit.edu	37	1	155884061	155884061	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:155884061C>T	ENST00000368321.3	-	14	1719	c.1696G>A	c.(1696-1698)Gct>Act	p.A566T	KIAA0907_ENST00000368320.3_3'UTR|RIT1_ENST00000368323.3_5'Flank|RIT1_ENST00000539040.1_5'Flank	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	566							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GCAGCATAAGCCACCAAGCCA	0.438																																						ENST00000368321.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1696-1698)Gct>Act		KIAA0907							100.0	95.0	97.0					1																	155884061		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155884061C>T	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1696G>A	1.37:g.155884061C>T	ENSP00000357304:p.Ala566Thr					KIAA0907_ENST00000368320.3_3'UTR	p.A566T	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		14	1719	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		566					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1696G>A	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852511	0.71719	.	.	ENSG00000132680	ENST00000368321	.	.	.	5.94	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.55673	0.1935	N	0.24115	0.695	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	T	0.65664	-0.6113	9	0.72032	D	0.01	-5.9875	16.3011	0.82816	0.1333:0.8666:0.0:0.0	.	566	Q7Z7F0	K0907_HUMAN	T	566	.	ENSP00000357304:A566T	A	-	1	0	KIAA0907	154150685	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.298000	0.59067	1.514000	0.48869	0.484000	0.47621	GCT		0.438	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		6	24	0	0	0	1	0	6	24				
CNIH4	29097	broad.mit.edu	37	1	224544695	224544695	+	Splice_Site	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:224544695C>G	ENST00000465271.1	+	1	144	c.69C>G	c.(67-69)ttC>ttG	p.F23L	CNIH4_ENST00000366856.3_Splice_Site_p.F23L|CNIH4_ENST00000366858.3_Splice_Site_p.F23L|CNIH4_ENST00000468318.1_3'UTR|CNIH4_ENST00000366857.5_Splice_Site_p.F23L	NM_014184.3	NP_054903.1	Q9P003	CNIH4_HUMAN	cornichon family AMPA receptor auxiliary protein 4	23					intracellular signal transduction (GO:0035556)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(3)|lung(2)|ovary(2)	7				GBM - Glioblastoma multiforme(131;0.00341)		CGGTCTACTTCGTATCCTTGC	0.662																																						ENST00000465271.1																			0				kidney(3)|lung(2)|ovary(2)	7						c.e1+1		cornichon family AMPA receptor auxiliary protein 4							168.0	110.0	130.0					1																	224544695		2203	4299	6502	SO:0001630	splice_region_variant	29097				intracellular signal transduction	endoplasmic reticulum|integral to membrane	protein binding	g.chr1:224544695C>G		CCDS1543.1, CCDS60429.1, CCDS60430.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143771	ENSG00000143771			25013	protein-coding gene	gene with protein product			"""cornichon homolog 4 (Drosophila)"""			11042152	Standard	NM_014184		Approved	HSPC163	uc001hom.2	Q9P003	OTTHUMG00000037635	ENST00000465271.1:c.69+1C>G	1.37:g.224544695C>G						CNIH4_ENST00000366856.3_Splice_Site_p.F23_splice|CNIH4_ENST00000468318.1_3'UTR|CNIH4_ENST00000366858.3_Splice_Site_p.F23_splice|CNIH4_ENST00000366857.5_Splice_Site_p.F23_splice	p.F23_splice	NM_014184.3	NP_054903.1	Q9P003	CNIH4_HUMAN		GBM - Glioblastoma multiforme(131;0.00341)	1	144	+			23					A8K1Q8|B2R553|Q9H0X8	Splice_Site	SNP	ENST00000465271.1	37	c.69_splice	CCDS1543.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032079	0.54790	.	.	ENSG00000143771	ENST00000465271;ENST00000366858;ENST00000366857;ENST00000366856	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	3.98	2.07	0.26955	.	0.047167	0.85682	D	0.000000	T	0.47820	0.1466	M	0.89095	3.005	0.51482	D	0.999922	B	0.10296	0.003	B	0.15870	0.014	T	0.55970	-0.8056	10	0.66056	D	0.02	-8.1979	10.4562	0.44553	0.0:0.8236:0.0:0.1764	.	23	Q9P003	CNIH4_HUMAN	L	23	ENSP00000420443:F23L;ENSP00000355823:F23L;ENSP00000355822:F23L;ENSP00000355821:F23L	ENSP00000355821:F23L	F	+	3	2	CNIH4	222611318	0.940000	0.31905	1.000000	0.80357	0.775000	0.43874	-0.080000	0.11339	1.002000	0.39104	0.313000	0.20887	TTC		0.662	CNIH4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091754.1	NM_014184	Missense_Mutation	7	2	0	0	0	1	0	7	2				
P2RX5	5026	broad.mit.edu	37	17	3592908	3592908	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:3592908C>G	ENST00000225328.5	-	7	1029	c.631G>C	c.(631-633)Gtc>Ctc	p.V211L	P2RX5_ENST00000551178.1_Missense_Mutation_p.V186L|P2RX5_ENST00000550772.1_Intron|P2RX5_ENST00000547178.1_Missense_Mutation_p.V210L|P2RX5_ENST00000552276.1_Missense_Mutation_p.V210L|P2RX5_ENST00000552050.1_Missense_Mutation_p.V151L|P2RX5-TAX1BP3_ENST00000550383.1_Missense_Mutation_p.V211L|P2RX5_ENST00000435558.1_Missense_Mutation_p.V211L|P2RX5_ENST00000345901.3_Missense_Mutation_p.V187L	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	211					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CTGTCCTTGACGTCCATCACA	0.577																																						ENST00000550383.1																			0											c.(631-633)Gtc>Ctc									222.0	170.0	188.0					17																	3592908		2203	4300	6503	SO:0001583	missense	100533970							g.chr17:3592908C>G	AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.631G>C	17.37:g.3592908C>G	ENSP00000225328:p.Val211Leu					P2RX5_ENST00000345901.3_Missense_Mutation_p.V187L|P2RX5_ENST00000435558.1_Missense_Mutation_p.V211L|P2RX5_ENST00000552276.1_Missense_Mutation_p.V210L|P2RX5_ENST00000552050.1_Missense_Mutation_p.V151L|P2RX5_ENST00000225328.5_Missense_Mutation_p.V211L|P2RX5_ENST00000551178.1_Missense_Mutation_p.V186L|P2RX5_ENST00000550772.1_Intron|P2RX5_ENST00000547178.1_Missense_Mutation_p.V210L	p.V211L							7	819	-								G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Missense_Mutation	SNP	ENST00000225328.5	37	c.631G>C	CCDS11034.1	.	.	.	.	.	.	.	.	.	.	C	6.847	0.525575	0.13066	.	.	ENSG00000083454	ENST00000435558;ENST00000551178;ENST00000547178;ENST00000225328;ENST00000345901;ENST00000552050	T;T;T;T;T;T	0.04083	3.71;3.71;3.71;3.71;3.71;3.71	5.27	3.07	0.35406	.	0.502267	0.24031	N	0.042187	T	0.04003	0.0112	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;B	0.26081	0.141;0.021;0.021;0.021;0.026;0.078	B;B;B;B;B;B	0.30029	0.071;0.059;0.048;0.059;0.08;0.11	T	0.38585	-0.9654	10	0.54805	T	0.06	-2.8624	8.5613	0.33511	0.0:0.1592:0.0:0.8408	.	151;187;210;186;211;211	B4DEG2;G5E981;Q93086-1;Q93086-2;Q93086;Q93086-4	.;.;.;.;P2RX5_HUMAN;.	L	211;186;210;211;187;151	ENSP00000415370:V211L;ENSP00000447545:V186L;ENSP00000448355:V210L;ENSP00000225328:V211L;ENSP00000342161:V187L;ENSP00000450006:V151L	ENSP00000225328:V211L	V	-	1	0	P2RX5	3539657	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	0.940000	0.28992	0.427000	0.26145	-0.302000	0.09304	GTC		0.577	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207388.3	NM_002561, NM_175080, NM_175081		27	74	0	0	0	1	0	27	74				
DNAJC14	85406	broad.mit.edu	37	12	56216472	56216472	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:56216472G>A	ENST00000357606.3	-	6	1968	c.1679C>T	c.(1678-1680)gCt>gTt	p.A560V	RP11-762I7.5_ENST00000552719.1_5'UTR|DNAJC14_ENST00000317269.3_Missense_Mutation_p.A560V|RP11-762I7.5_ENST00000546837.1_Silent_p.C189C|DNAJC14_ENST00000317287.5_Missense_Mutation_p.A560V			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	560					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						ATTACACTCAGCACAGTATCT	0.473																																						ENST00000357606.3																			0				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						c.(1678-1680)gCt>gTt		DnaJ (Hsp40) homolog, subfamily C, member 14							147.0	128.0	134.0					12																	56216472		2203	4300	6503	SO:0001583	missense	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56216472G>A	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.1679C>T	12.37:g.56216472G>A	ENSP00000350223:p.Ala560Val					RP11-762I7.5_ENST00000552719.1_5'UTR|DNAJC14_ENST00000317269.3_Missense_Mutation_p.A560V|DNAJC14_ENST00000317287.5_Missense_Mutation_p.A560V|RP11-762I7.5_ENST00000546837.1_Silent_p.C189C	p.A560V			Q6Y2X3	DJC14_HUMAN			6	1968	-			560					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	c.1679C>T	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383042	0.82792	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287;ENST00000540330	T;T;T	0.34472	1.36;1.36;1.36	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.54663	0.1872	L	0.56769	1.78	0.58432	D	0.999999	D;D	0.67145	0.996;0.996	P;P	0.62740	0.906;0.906	T	0.54649	-0.8262	10	0.72032	D	0.01	-12.9084	16.6862	0.85309	0.0:0.0:1.0:0.0	.	560;560	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	V	560;560;270;560;56	ENSP00000350223:A560V;ENSP00000316240:A560V;ENSP00000317500:A560V	ENSP00000316240:A560V	A	-	2	0	DNAJC14	54502739	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	5.820000	0.69250	2.885000	0.99019	0.655000	0.94253	GCT		0.473	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		26	64	0	0	0	1	0	26	64				
MUC20	200958	broad.mit.edu	37	3	195452896	195452896	+	Silent	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:195452896C>G	ENST00000447234.2	+	2	1548	c.1422C>G	c.(1420-1422)gtC>gtG	p.V474V	MUC20_ENST00000436408.1_Silent_p.V474V|MUC20_ENST00000445522.2_Silent_p.V439V|MUC20_ENST00000320736.6_Silent_p.V303V	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	474	Involved in oligomerization.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCACTGAGGTCACAGCCTCTG	0.602																																						ENST00000320736.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23						c.(907-909)gtC>gtG		mucin 20, cell surface associated							53.0	47.0	49.0					3																	195452896		2183	4271	6454	SO:0001819	synonymous_variant	200958				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		g.chr3:195452896C>G	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1422C>G	3.37:g.195452896C>G						MUC20_ENST00000445522.2_Silent_p.V439V|MUC20_ENST00000436408.1_Silent_p.V474V|MUC20_ENST00000447234.2_Silent_p.V474V	p.V303V	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	3	1035	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	474		Missing.	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Silent	SNP	ENST00000447234.2	37	c.909C>G																																																																																					0.602	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		8	49	0	0	0	1	0	8	49				
FAT1	2195	broad.mit.edu	37	4	187542861	187542861	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:187542861G>A	ENST00000441802.2	-	10	5088	c.4879C>T	c.(4879-4881)Cga>Tga	p.R1627*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1627	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGGTTACTTCGATCTAATTCT	0.368										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(4879-4881)Cga>Tga		FAT atypical cadherin 1							33.0	32.0	33.0					4																	187542861		1848	4085	5933	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187542861G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4879C>T	4.37:g.187542861G>A	ENSP00000406229:p.Arg1627*	HNSCC(5;0.00058)					p.R1627*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	5088	-			1627			Cadherin 14.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.4879C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	45	12.062694	0.99632	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.09	5.09	0.68999	.	0.062767	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	19.0561	0.93066	0.0:0.0:1.0:0.0	.	.	.	.	X	1627;1629	.	ENSP00000260147:R1629X	R	-	1	2	FAT1	187779855	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.830000	0.55768	2.810000	0.96702	0.650000	0.86243	CGA		0.368	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		3	11	0	0	0	1	0	3	11				
IGIP	492311	broad.mit.edu	37	5	139508127	139508127	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:139508127C>T	ENST00000333305.3	+	1	2607	c.66C>T	c.(64-66)gtC>gtT	p.V22V		NM_001007189.1	NP_001007190.1	A6NJ69	IGIP_HUMAN	IgA-inducing protein	22						extracellular region (GO:0005576)											TATTTGCTGTCATGTTCTCCC	0.383																																						ENST00000333305.3																			0											c.(64-66)gtC>gtT		IgA-inducing protein							169.0	151.0	157.0					5																	139508127		2203	4300	6503	SO:0001819	synonymous_variant	492311					extracellular region		g.chr5:139508127C>T	AB073888, BC017422, BC041380	CCDS34244.1	5q31	2013-08-06	2013-08-06	2011-09-22	ENSG00000182700	ENSG00000182700			33847	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 53"", ""IgA-inducing protein homolog (Bos taurus)"""	C5orf53		19201837, 12874223, 21074276	Standard	NM_001007189		Approved	LOC492311	uc003lfb.1	A6NJ69	OTTHUMG00000163359	ENST00000333305.3:c.66C>T	5.37:g.139508127C>T							p.V22V	NM_001007189.1	NP_001007190.1	A6NJ69	IGIP_HUMAN			1	2607	+			22						Silent	SNP	ENST00000333305.3	37	c.66C>T	CCDS34244.1																																																																																				0.383	IGIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372850.1	NM_001007189		11	36	0	0	0	1	0	11	36				
AFAP1L2	84632	broad.mit.edu	37	10	116060094	116060094	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:116060094G>C	ENST00000304129.4	-	15	1845	c.1816C>G	c.(1816-1818)Cct>Gct	p.P606A	AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.P659A|AFAP1L2_ENST00000369271.3_Missense_Mutation_p.P606A			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	606					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTCAGGGAAGGATCCTCTGGC	0.607																																						ENST00000369271.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21						c.(1816-1818)Cct>Gct		actin filament associated protein 1-like 2							119.0	130.0	126.0					10																	116060094		2203	4300	6503	SO:0001583	missense	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116060094G>C	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1816C>G	10.37:g.116060094G>C	ENSP00000303042:p.Pro606Ala					AFAP1L2_ENST00000304129.4_Missense_Mutation_p.P606A|AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.P659A	p.P606A	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	15	2116	-		Colorectal(252;0.175)|Breast(234;0.231)	606					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	37	c.1816C>G	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	G	7.646	0.681894	0.14907	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.13778	2.58;2.58;2.56	5.24	1.22	0.21188	.	0.691702	0.14703	N	0.303444	T	0.15696	0.0378	M	0.69823	2.125	0.09310	N	1	B;B;B;B;B;B;B	0.15473	0.002;0.0;0.0;0.013;0.001;0.001;0.002	B;B;B;B;B;B;B	0.15870	0.005;0.003;0.001;0.014;0.004;0.001;0.002	T	0.33650	-0.9860	10	0.18276	T	0.48	-0.7841	11.8649	0.52488	0.069:0.5109:0.4201:0.0	.	659;172;660;128;634;606;606	F5GZE1;B7Z363;B7Z2Q0;Q8N4X5-3;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;.;.;AF1L2_HUMAN	A	606;606;633;659	ENSP00000358276:P606A;ENSP00000303042:P606A;ENSP00000444511:P659A	ENSP00000303042:P606A	P	-	1	0	AFAP1L2	116050084	0.075000	0.21258	0.010000	0.14722	0.084000	0.17831	0.643000	0.24750	-0.031000	0.13781	-1.195000	0.01675	CCT		0.607	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		35	93	0	0	0	1	0	35	93				
FAM179B	23116	broad.mit.edu	37	14	45433482	45433482	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:45433482C>G	ENST00000361577.3	+	1	2072	c.1858C>G	c.(1858-1860)Cag>Gag	p.Q620E	KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.Q620E|KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361462.2_Missense_Mutation_p.Q620E	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	620										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TAACAGAACTCAGAGTGCACA	0.498																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(1858-1860)Cag>Gag		family with sequence similarity 179, member B							117.0	100.0	105.0					14																	45433482		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45433482C>G	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1858C>G	14.37:g.45433482C>G	ENSP00000355045:p.Gln620Glu					FAM179B_ENST00000382233.2_Missense_Mutation_p.Q620E|FAM179B_ENST00000361577.3_Missense_Mutation_p.Q620E|KLHL28_ENST00000553817.1_Intron	p.Q620E			Q9Y4F4	F179B_HUMAN			1	2041	+			620					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.1858C>G	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.388376	0.42308	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.03951	3.75;3.75;3.75	4.93	4.93	0.64822	Armadillo-type fold (1);	0.188938	0.38897	N	0.001525	T	0.09905	0.0243	N	0.24115	0.695	0.39598	D	0.969691	P;D;D;P	0.57257	0.894;0.979;0.979;0.894	P;P;P;P	0.56563	0.587;0.801;0.725;0.587	T	0.16305	-1.0407	10	0.59425	D	0.04	-6.5548	17.9378	0.89018	0.0:1.0:0.0:0.0	.	620;620;620;620	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	E	620	ENSP00000355045:Q620E;ENSP00000354917:Q620E;ENSP00000371668:Q620E	ENSP00000354917:Q620E	Q	+	1	0	FAM179B	44503232	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.155000	0.58131	2.568000	0.86640	0.561000	0.74099	CAG		0.498	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		44	40	0	0	0	1	0	44	40				
USP7	7874	broad.mit.edu	37	16	8999176	8999176	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:8999176C>G	ENST00000344836.4	-	14	1639	c.1441G>C	c.(1441-1443)Gat>Cat	p.D481H	USP7_ENST00000381886.4_Missense_Mutation_p.D465H|USP7_ENST00000535863.1_Missense_Mutation_p.D382H	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	481	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACGTCGTCATCAAATTTACAC	0.458											OREG0023595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1441-1443)Gat>Cat		ubiquitin specific peptidase 7 (herpes virus-associated)							193.0	150.0	165.0					16																	8999176		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8999176C>G	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1441G>C	16.37:g.8999176C>G	ENSP00000343535:p.Asp481His		OREG0023595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	653	USP7_ENST00000535863.1_Missense_Mutation_p.D382H|USP7_ENST00000381886.4_Missense_Mutation_p.D465H	p.D481H	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			14	1639	-			481					A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.1441G>C	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885771	0.72410	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T	0.09445	2.98;2.98;2.98	5.49	5.49	0.81192	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.52645	0.1747	H	0.98178	4.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72141	-0.4380	10	0.87932	D	0	.	19.3687	0.94475	0.0:1.0:0.0:0.0	.	481;465	Q93009;B7Z815	UBP7_HUMAN;.	H	481;489;382;382;423	ENSP00000343535:D481H;ENSP00000443646:D382H;ENSP00000439272:D423H	ENSP00000343535:D481H	D	-	1	0	USP7	8906677	1.000000	0.71417	0.970000	0.41538	0.411000	0.31082	7.668000	0.83897	2.573000	0.86826	0.561000	0.74099	GAT		0.458	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			13	40	0	0	0	1	0	13	40				
ZNF444	55311	broad.mit.edu	37	19	56669875	56669875	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:56669875T>C	ENST00000337080.3	+	4	677	c.310T>C	c.(310-312)Tcc>Ccc	p.S104P	ZNF444_ENST00000592949.1_Missense_Mutation_p.S104P|ZNF444_ENST00000592171.1_3'UTR	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	104	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		GCCAGCAGCCTCCCCCGATGG	0.587																																						ENST00000337080.3																			0				NS(1)|endometrium(1)|lung(5)	7						c.(310-312)Tcc>Ccc		zinc finger protein 444							60.0	56.0	57.0					19																	56669875		2203	4300	6503	SO:0001583	missense	55311				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56669875T>C	AB052954	CCDS12939.1, CCDS59426.1	19q13.43	2013-01-09			ENSG00000167685	ENSG00000167685		"""-"", ""Zinc fingers, C2H2-type"""	16052	protein-coding gene	gene with protein product		607874				11978792, 19760602	Standard	NM_001253792		Approved	ZSCAN17, FLJ11137, EZF2	uc002qmm.3	Q8N0Y2		ENST00000337080.3:c.310T>C	19.37:g.56669875T>C	ENSP00000338860:p.Ser104Pro					ZNF444_ENST00000592949.1_Missense_Mutation_p.S104P|ZNF444_ENST00000592171.1_3'UTR	p.S104P	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN		GBM - Glioblastoma multiforme(193;0.0531)	4	677	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	104			SCAN box.		Q8TEQ9|Q8WU35|Q9NUU1	Missense_Mutation	SNP	ENST00000337080.3	37	c.310T>C	CCDS12939.1	.	.	.	.	.	.	.	.	.	.	T	9.788	1.177173	0.21787	.	.	ENSG00000167685	ENST00000337080	T	0.04317	3.65	2.69	0.432	0.16529	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (1);	.	.	.	.	T	0.04407	0.0121	N	0.19112	0.55	0.09310	N	1	P;P	0.47910	0.902;0.837	P;P	0.48982	0.461;0.597	T	0.37911	-0.9685	9	0.40728	T	0.16	.	2.8427	0.05534	0.0:0.1571:0.2681:0.5748	.	104;104	Q8N0Y2-2;Q8N0Y2	.;ZN444_HUMAN	P	104	ENSP00000338860:S104P	ENSP00000338860:S104P	S	+	1	0	ZNF444	61361687	0.004000	0.15560	0.009000	0.14445	0.002000	0.02628	0.575000	0.23729	-0.093000	0.12396	-0.472000	0.04984	TCC		0.587	ZNF444-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457503.1	NM_018337		6	21	0	0	0	1	0	6	21				
STRIP1	85369	broad.mit.edu	37	1	110585752	110585752	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:110585752G>A	ENST00000369795.3	+	9	950	c.928G>A	c.(928-930)Gag>Aag	p.E310K	STRIP1_ENST00000369796.1_Missense_Mutation_p.E215K	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	310					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											CATGAAGGCTGAGAAGCGCAG	0.587																																						ENST00000369795.3																			0											c.(928-930)Gag>Aag		striatin interacting protein 1							51.0	50.0	50.0					1																	110585752		2203	4299	6502	SO:0001583	missense	85369							g.chr1:110585752G>A	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.928G>A	1.37:g.110585752G>A	ENSP00000358810:p.Glu310Lys					STRIP1_ENST00000369796.1_Missense_Mutation_p.E215K	p.E310K	NM_033088.2	NP_149079.2					9	950	+								Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	ENST00000369795.3	37	c.928G>A	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.161468	0.57368	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.44482	0.92;0.93	5.93	5.93	0.95920	.	0.321097	0.39083	N	0.001472	T	0.07458	0.0188	N	0.01576	-0.805	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.006	T	0.27872	-1.0061	10	0.07482	T	0.82	-31.8836	15.7814	0.78264	0.0:0.1354:0.8646:0.0	.	215;310	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	K	215;310	ENSP00000358811:E215K;ENSP00000358810:E310K	ENSP00000358810:E310K	E	+	1	0	FAM40A	110387275	0.992000	0.36948	0.999000	0.59377	0.994000	0.84299	2.327000	0.43858	2.814000	0.96858	0.655000	0.94253	GAG		0.587	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		8	16	0	0	0	1	0	8	16				
C1orf105	92346	broad.mit.edu	37	1	172414284	172414284	+	Silent	SNP	C	C	T	rs531541544		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:172414284C>T	ENST00000367727.4	+	2	291	c.93C>T	c.(91-93)ctC>ctT	p.L31L	PIGC_ENST00000344529.4_5'Flank|PIGC_ENST00000258324.1_5'Flank|PIGC_ENST00000367728.1_5'Flank|PIGC_ENST00000484368.1_5'Flank	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	31										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						CATTAGTGCTCAGCCTTCCCA	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		19260	0.0		0.0	False		,,,				2504	0.001					ENST00000367727.4																			0				large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						c.(91-93)ctC>ctT		chromosome 1 open reading frame 105							69.0	71.0	70.0					1																	172414284		2203	4300	6503	SO:0001819	synonymous_variant	92346							g.chr1:172414284C>T	AL035295	CCDS1301.1, CCDS72983.1	1q24.3	2012-06-26			ENSG00000180999	ENSG00000180999			29591	protein-coding gene	gene with protein product						12477932	Standard	NM_139240		Approved		uc001gik.3	O95561	OTTHUMG00000034750	ENST00000367727.4:c.93C>T	1.37:g.172414284C>T							p.L31L	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN			2	291	+			31					Q8IY02	Silent	SNP	ENST00000367727.4	37	c.93C>T	CCDS1301.1																																																																																				0.433	C1orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084062.2	NM_139240		5	20	0	0	0	1	0	5	20				
PARM1	25849	broad.mit.edu	37	4	75937986	75937986	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:75937986C>T	ENST00000307428.7	+	2	607	c.395C>T	c.(394-396)gCa>gTa	p.A132V	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	132					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						ACTCCTGAAGCAGGCGTGGCA	0.582																																						ENST00000307428.7																			0				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(394-396)gCa>gTa		prostate androgen-regulated mucin-like protein 1							136.0	145.0	142.0					4																	75937986		2126	4238	6364	SO:0001583	missense	25849				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane		g.chr4:75937986C>T	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"""Prostatic androgen-repressed message 1"", ""Castration-induced prostatic apoptosis-related protein 1"", ""WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"""					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.395C>T	4.37:g.75937986C>T	ENSP00000370224:p.Ala132Val					RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	p.A132V	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN			2	607	+			132					B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	ENST00000307428.7	37	c.395C>T	CCDS47077.1	.	.	.	.	.	.	.	.	.	.	c	9.392	1.075657	0.20227	.	.	ENSG00000169116	ENST00000307428	T	0.47177	0.85	5.34	0.428	0.16499	.	1.352670	0.04674	N	0.411123	T	0.27419	0.0673	N	0.12746	0.255	0.09310	N	1	B	0.13594	0.008	B	0.20767	0.031	T	0.15954	-1.0419	10	0.20046	T	0.44	0.1464	3.8094	0.08791	0.16:0.4869:0.0:0.353	.	132	Q6UWI2	PARM1_HUMAN	V	132	ENSP00000370224:A132V	ENSP00000370224:A132V	A	+	2	0	PARM1	76157010	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.210000	0.17455	0.018000	0.15052	-0.213000	0.12676	GCA		0.582	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		24	101	0	0	0	1	0	24	101				
CUL1	8454	broad.mit.edu	37	7	148496405	148496405	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:148496405G>A	ENST00000325222.4	+	21	2454	c.2175G>A	c.(2173-2175)ctG>ctA	p.L725L	CUL1_ENST00000602748.1_Silent_p.L725L|CUL1_ENST00000409469.1_Silent_p.L725L	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	725					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GGAAGGTTCTGAAACACCAGC	0.458																																						ENST00000325222.4																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40						c.(2173-2175)ctG>ctA		cullin 1							161.0	121.0	135.0					7																	148496405		2203	4300	6503	SO:0001819	synonymous_variant	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148496405G>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.2175G>A	7.37:g.148496405G>A						CUL1_ENST00000409469.1_Silent_p.L725L|CUL1_ENST00000602748.1_Silent_p.L725L	p.L725L	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		21	2454	+	Melanoma(164;0.15)		725					D3DWG3|O60719|Q08AL6|Q8IYW1	Silent	SNP	ENST00000325222.4	37	c.2175G>A	CCDS34772.1																																																																																				0.458	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		10	20	0	0	0	1	0	10	20				
MIDN	90007	broad.mit.edu	37	19	1255542	1255542	+	Silent	SNP	G	G	A	rs45524034		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:1255542G>A	ENST00000591446.2	+	6	1387	c.978G>A	c.(976-978)tcG>tcA	p.S326S	MIDN_ENST00000300952.2_Silent_p.S326S			Q504T8	MIDN_HUMAN	midnolin	326						cytosol (GO:0005829)|nucleolus (GO:0005730)				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCCCTTCGCTGGCCCAGC	0.711													G|||	1	0.000199681	0.0	0.0	5008	,	,		15039	0.0		0.001	False		,,,				2504	0.0					ENST00000300952.2																			0				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(976-978)tcG>tcA		midnolin							30.0	27.0	28.0					19																	1255542		2199	4296	6495	SO:0001819	synonymous_variant	90007					nucleolus		g.chr19:1255542G>A	AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.978G>A	19.37:g.1255542G>A						MIDN_ENST00000591446.2_Silent_p.S326S	p.S326S	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1493	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	326					Q96BW8	Silent	SNP	ENST00000591446.2	37	c.978G>A	CCDS32864.1																																																																																				0.711	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2			6	22	0	0	0	1	0	6	22				
LENG9	94059	broad.mit.edu	37	19	54973654	54973654	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:54973654C>T	ENST00000333834.4	-	1	1240	c.1122G>A	c.(1120-1122)ggG>ggA	p.G374G		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	374							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CGGCCTCCTCCCCAGCGCCTG	0.652																																						ENST00000333834.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11						c.(1120-1122)ggG>ggA		leukocyte receptor cluster (LRC) member 9							34.0	37.0	36.0					19																	54973654		2198	4283	6481	SO:0001819	synonymous_variant	94059				RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding	g.chr19:54973654C>T	AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.1122G>A	19.37:g.54973654C>T							p.G374G	NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN		GBM - Glioblastoma multiforme(193;0.134)	1	1240	-	Ovarian(34;0.19)		374					B2VAM3	Silent	SNP	ENST00000333834.4	37	c.1122G>A	CCDS12895.2																																																																																				0.652	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140806.3	NM_198988		20	54	0	0	0	1	0	20	54				
LYST	1130	broad.mit.edu	37	1	235933543	235933543	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:235933543G>C	ENST00000389794.3	-	20	6013	c.5839C>G	c.(5839-5841)Cac>Gac	p.H1947D	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.H1947D			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1947					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGCTGGTGGTGATCTGCTCTG	0.388																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(5839-5841)Cac>Gac		lysosomal trafficking regulator							130.0	133.0	132.0					1																	235933543		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235933543G>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5839C>G	1.37:g.235933543G>C	ENSP00000374444:p.His1947Asp					LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.H1947D	p.H1947D			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		20	6013	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1947					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.5839C>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671045	0.88348	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.75477	-0.94;-0.94	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.80160	0.4572	M	0.72118	2.19	0.80722	D	1	P	0.51057	0.941	P	0.47864	0.559	T	0.82900	-0.0228	10	0.72032	D	0.01	.	19.3362	0.94320	0.0:0.0:1.0:0.0	.	1947	Q99698	LYST_HUMAN	D	1947	ENSP00000374444:H1947D;ENSP00000374443:H1947D	ENSP00000374443:H1947D	H	-	1	0	LYST	234000166	1.000000	0.71417	0.942000	0.38095	0.976000	0.68499	9.869000	0.99810	2.592000	0.87571	0.650000	0.86243	CAC		0.388	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			10	28	0	0	0	1	0	10	28				
CCDC85B	11007	broad.mit.edu	37	11	65658862	65658862	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:65658862G>A	ENST00000312579.2	+	1	988	c.608G>A	c.(607-609)tGa>tAa	p.*203*	FIBP_ENST00000357519.4_5'Flank|FIBP_ENST00000533045.1_5'Flank|FIBP_ENST00000338369.2_5'Flank|FIBP_ENST00000426652.2_5'Flank	NM_006848.2	NP_006839.2	Q15834	CC85B_HUMAN	coiled-coil domain containing 85B	0					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)									READ - Rectum adenocarcinoma(159;0.166)		CCCGATGATTGAAGGCACTGC	0.711																																						ENST00000312579.2																			0											c.(607-609)tGa>tAa		coiled-coil domain containing 85B							21.0	19.0	20.0					11																	65658862		2200	4294	6494	SO:0001819	synonymous_variant	11007				cell differentiation|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	protein binding	g.chr11:65658862G>A	BC008796	CCDS8120.1	11q13.1	2010-12-24				ENSG00000175602			24926	protein-coding gene	gene with protein product	"""hepatitis delta antigen interacting protein A"""	605360				8810253, 15644333, 17873903	Standard	NM_006848		Approved	DIPA	uc001ogf.3	Q15834		ENST00000312579.2:c.608G>A	11.37:g.65658862G>A							p.*203*	NM_006848.2	NP_006839.2	Q15834	CC85B_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	1	988	+			0					B2R598|Q96HA0	Silent	SNP	ENST00000312579.2	37	c.608G>A	CCDS8120.1																																																																																				0.711	CCDC85B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391196.1	NM_006848		3	21	0	0	0	1	0	3	21				
C3orf56	285311	broad.mit.edu	37	3	126916103	126916103	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:126916103C>T	ENST00000398112.1	+	2	815	c.575C>T	c.(574-576)tCc>tTc	p.S192F		NM_001007534.2	NP_001007535.1	Q8N813	CC056_HUMAN	chromosome 3 open reading frame 56	192										breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		GAATGGGCCTCCAGGTTCGGT	0.627																																						ENST00000398112.1																			0				breast(1)|endometrium(2)|kidney(1)|lung(5)	9						c.(574-576)tCc>tTc		chromosome 3 open reading frame 56							33.0	36.0	35.0					3																	126916103		1919	4116	6035	SO:0001583	missense	285311							g.chr3:126916103C>T	AK097460	CCDS63757.1	3q21.3	2012-08-08			ENSG00000214324	ENSG00000214324			32481	protein-coding gene	gene with protein product						14702039	Standard	NM_001007534		Approved	FLJ40141	uc003eji.1	Q8N813	OTTHUMG00000159593	ENST00000398112.1:c.575C>T	3.37:g.126916103C>T	ENSP00000381182:p.Ser192Phe						p.S192F	NM_001007534.2	NP_001007535.1				GBM - Glioblastoma multiforme(114;0.142)	2	815	+								B2RNW5	Missense_Mutation	SNP	ENST00000398112.1	37	c.575C>T		.	.	.	.	.	.	.	.	.	.	C	7.276	0.608092	0.14002	.	.	ENSG00000214324	ENST00000398112	.	.	.	1.95	0.986	0.19784	.	.	.	.	.	T	0.55832	0.1945	.	.	.	0.09310	N	1	D	0.65815	0.995	D	0.68353	0.957	T	0.40701	-0.9549	7	0.87932	D	0	.	6.337	0.21302	0.0:0.5666:0.4334:0.0	.	192	Q8N813	CC056_HUMAN	F	192	.	ENSP00000381182:S192F	S	+	2	0	C3orf56	128398793	0.011000	0.17503	0.001000	0.08648	0.081000	0.17604	0.851000	0.27751	0.292000	0.22492	0.585000	0.79938	TCC		0.627	C3orf56-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000356354.1			11	43	0	0	0	1	0	11	43				
MAST1	22983	broad.mit.edu	37	19	12976805	12976805	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:12976805G>C	ENST00000251472.4	+	17	1957	c.1918G>C	c.(1918-1920)Gag>Cag	p.E640Q		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CGGCGCTTTTGAGGTGAAGCA	0.632																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(1918-1920)Gag>Cag		microtubule associated serine/threonine kinase 1							59.0	59.0	59.0					19																	12976805		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12976805G>C	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1918G>C	19.37:g.12976805G>C	ENSP00000251472:p.Glu640Gln						p.E640Q	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			17	1957	+			640			Protein kinase.			Missense_Mutation	SNP	ENST00000251472.4	37	c.1918G>C	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991710	0.74703	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.27104	1.69	5.07	4.04	0.47022	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.125982	0.51477	D	0.000088	T	0.34600	0.0903	N	0.25060	0.705	0.52501	D	0.999959	D	0.89917	1.0	D	0.97110	1.0	T	0.12477	-1.0546	10	0.56958	D	0.05	-14.1896	11.4894	0.50373	0.0888:0.0:0.9112:0.0	.	640	Q9Y2H9	MAST1_HUMAN	Q	640	ENSP00000251472:E640Q	ENSP00000251472:E640Q	E	+	1	0	MAST1	12837805	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	9.828000	0.99408	1.278000	0.44430	0.563000	0.77884	GAG		0.632	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		10	43	0	0	0	1	0	10	43				
FBLN2	2199	broad.mit.edu	37	3	13659771	13659771	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:13659771G>T	ENST00000295760.7	+	6	1994	c.1925G>T	c.(1924-1926)cGc>cTc	p.R642L	FBLN2_ENST00000535798.1_Missense_Mutation_p.R668L|FBLN2_ENST00000492059.1_Missense_Mutation_p.R642L|FBLN2_ENST00000404922.3_Missense_Mutation_p.R642L	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	642	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GACGATGGCCGCACTTGCCGC	0.617																																						ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(1924-1926)cGc>cTc		fibulin 2							60.0	61.0	61.0					3																	13659771		2022	4170	6192	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13659771G>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.1925G>T	3.37:g.13659771G>T	ENSP00000295760:p.Arg642Leu					FBLN2_ENST00000295760.7_Missense_Mutation_p.R642L|FBLN2_ENST00000492059.1_Missense_Mutation_p.R642L|FBLN2_ENST00000535798.1_Missense_Mutation_p.R668L	p.R642L	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		6	2044	+			642			EGF-like 1; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.1925G>T	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	g	8.316	0.823113	0.16678	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18	5.2	0.923	0.19413	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.497530	0.21689	N	0.070609	D	0.93058	0.7790	M	0.80982	2.52	0.30378	N	0.782261	B;B;B	0.22276	0.039;0.067;0.054	B;B;B	0.22753	0.021;0.041;0.019	T	0.82285	-0.0533	10	0.18276	T	0.48	.	0.6024	0.00747	0.2789:0.1223:0.3514:0.2474	.	642;642;668	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	L	668;642;642;642	ENSP00000445705:R668L;ENSP00000384169:R642L;ENSP00000295760:R642L;ENSP00000420042:R642L	ENSP00000295760:R642L	R	+	2	0	FBLN2	13634772	0.979000	0.34478	0.995000	0.50966	0.932000	0.56968	1.434000	0.34958	0.231000	0.21079	-0.153000	0.13522	CGC		0.617	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		17	41	1	0	1.99824e-07	1	2.16387e-07	17	41				
OR1A2	26189	broad.mit.edu	37	17	3101367	3101367	+	Silent	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:3101367G>C	ENST00000381951.1	+	1	555	c.555G>C	c.(553-555)ctG>ctC	p.L185L		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	185					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TGCCTTTGCTGAAGTTGTCCT	0.463																																						ENST00000381951.1																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						c.(553-555)ctG>ctC		olfactory receptor, family 1, subfamily A, member 2							196.0	157.0	171.0					17																	3101367		2203	4300	6503	SO:0001819	synonymous_variant	26189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3101367G>C	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.555G>C	17.37:g.3101367G>C							p.L185L	NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN			1	555	+			185					Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Silent	SNP	ENST00000381951.1	37	c.555G>C	CCDS11021.1																																																																																				0.463	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		18	73	0	0	0	1	0	18	73				
DNAJC10	54431	broad.mit.edu	37	2	183623957	183623957	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:183623957C>T	ENST00000264065.7	+	21	2483	c.2068C>T	c.(2068-2070)Cat>Tat	p.H690Y		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	690	Thioredoxin 4. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AGGGAAAAATCATTGGGTGAT	0.378																																					Pancreas(56;860 1183 25669 35822 48585)	ENST00000264065.6																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32						c.(2068-2070)Cat>Tat		DnaJ (Hsp40) homolog, subfamily C, member 10							94.0	92.0	93.0					2																	183623957		2203	4300	6503	SO:0001583	missense	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183623957C>T		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.2068C>T	2.37:g.183623957C>T	ENSP00000264065:p.His690Tyr						p.H690Y	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		21	2483	+			690			Thioredoxin 4.		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	c.2068C>T	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695998	0.88830	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.03242	4.0	6.17	6.17	0.99709	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.11067	0.0270	L	0.31804	0.96	0.80722	D	1	D;D	0.71674	0.971;0.998	P;D	0.64595	0.645;0.927	T	0.18366	-1.0339	10	0.32370	T	0.25	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	644;690	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	Y	690;644	ENSP00000264065:H690Y	ENSP00000264065:H690Y	H	+	1	0	DNAJC10	183332202	1.000000	0.71417	0.481000	0.27354	0.782000	0.44232	7.786000	0.85741	2.941000	0.99782	0.655000	0.94253	CAT		0.378	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		8	24	0	0	0	1	0	8	24				
SYNE1	23345	broad.mit.edu	37	6	152461273	152461273	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:152461273G>A	ENST00000367255.5	-	140	25871	c.25270C>T	c.(25270-25272)Ctc>Ttc	p.L8424F	SYNE1_ENST00000265368.4_Missense_Mutation_p.L8424F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L8376F|SYNE1_ENST00000356820.4_Missense_Mutation_p.L2948F|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.L8036F|SYNE1_ENST00000354674.4_Missense_Mutation_p.L602F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L8376F|SYNE1_ENST00000539504.1_Missense_Mutation_p.L579F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8424					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGGCCTGGAGAAGCTCCCAT	0.478										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(25270-25272)Ctc>Ttc		spectrin repeat containing, nuclear envelope 1							121.0	102.0	108.0					6																	152461273		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152461273G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25270C>T	6.37:g.152461273G>A	ENSP00000356224:p.Leu8424Phe	HNSCC(10;0.0054)				SYNE1_ENST00000539504.1_Missense_Mutation_p.L579F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L8036F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L8376F|SYNE1_ENST00000354674.4_Missense_Mutation_p.L602F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L8424F|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.L8376F|SYNE1_ENST00000356820.4_Missense_Mutation_p.L2948F	p.L8424F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	140	25871	-		Ovarian(120;0.0955)	8424					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.25270C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789682	0.31685	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.62941	0.08;3.98;0.76;0.11;-0.01;0.11;0.27;2.05;0.95;4.01	5.92	-7.86	0.01187	.	0.789113	0.10971	N	0.613817	T	0.40767	0.1130	L	0.52759	1.655	0.19775	N	0.999952	P;P;P;P;B	0.43788	0.722;0.722;0.817;0.722;0.087	B;B;P;B;B	0.45232	0.19;0.19;0.474;0.282;0.05	T	0.56601	-0.7952	10	0.66056	D	0.02	.	14.3763	0.66879	0.0651:0.0:0.294:0.6409	.	8424;8424;8376;8376;626	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	F	8424;579;1070;8376;8424;8376;8036;2948;609;604;1369;602	ENSP00000356224:L8424F;ENSP00000441052:L579F;ENSP00000356226:L1070F;ENSP00000396024:L8376F;ENSP00000265368:L8424F;ENSP00000390975:L8376F;ENSP00000341887:L8036F;ENSP00000349276:L2948F;ENSP00000356220:L1369F;ENSP00000346701:L602F	ENSP00000265368:L8424F	L	-	1	0	SYNE1	152502966	0.761000	0.28439	0.087000	0.20705	0.403000	0.30841	0.258000	0.18387	-0.963000	0.03600	-0.397000	0.06425	CTC		0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		18	49	0	0	0	1	0	18	49				
ZXDB	158586	broad.mit.edu	37	X	57618621	57618621	+	Missense_Mutation	SNP	T	T	C	rs368802496		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:57618621T>C	ENST00000374888.1	+	1	353	c.140T>C	c.(139-141)cTc>cCc	p.L47P		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	47					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.L47P(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CTCCTGCTGCTCCGGGGCCCC	0.786																																						ENST00000374888.1																			1	Substitution - Missense(1)	p.L47P(1)	skin(1)	NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(139-141)cTc>cCc		zinc finger, X-linked, duplicated B																																				SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57618621T>C	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.140T>C	X.37:g.57618621T>C	ENSP00000364023:p.Leu47Pro						p.L47P	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	353	+			47					A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.140T>C	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	5.023	0.189870	0.09547	.	.	ENSG00000198455	ENST00000374888	T	0.46451	0.87	2.43	2.43	0.29744	.	0.229752	0.27966	N	0.017140	T	0.32255	0.0823	L	0.52573	1.65	0.49582	D	0.999801	B	0.02656	0.0	B	0.04013	0.001	T	0.10941	-1.0608	10	0.27082	T	0.32	.	7.9262	0.29876	0.0:0.0:0.0:1.0	.	47	P98169	ZXDB_HUMAN	P	47	ENSP00000364023:L47P	ENSP00000364023:L47P	L	+	2	0	ZXDB	57635346	0.000000	0.05858	0.900000	0.35374	0.074000	0.17049	-0.375000	0.07475	1.201000	0.43203	0.393000	0.25936	CTC		0.786	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		3	5	0	0	0	1	0	3	5				
MYOM3	127294	broad.mit.edu	37	1	24409086	24409086	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:24409086G>A	ENST00000374434.3	-	17	2251	c.2089C>T	c.(2089-2091)Ctg>Ttg	p.L697L	MYOM3_ENST00000330966.7_Silent_p.L698L|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Silent_p.L697L|RP11-293P20.4_ENST00000429191.1_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	697						M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GACTCACCCAGAGCCTGCTTG	0.642																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(2092-2094)Ctg>Ttg		myomesin 3							37.0	42.0	40.0					1																	24409086		2059	4176	6235	SO:0001819	synonymous_variant	127294							g.chr1:24409086G>A	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.2089C>T	1.37:g.24409086G>A						RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Silent_p.L697L|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000329601.7_Silent_p.L697L	p.L698L			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	17	2254	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	697					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	c.2092C>T	CCDS41281.1																																																																																				0.642	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		12	23	0	0	0	1	0	12	23				
LPIN3	64900	broad.mit.edu	37	20	39978896	39978896	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr20:39978896C>T	ENST00000373257.3	+	7	1052	c.961C>T	c.(961-963)Ctc>Ttc	p.L321F		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	321					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GGGTCCCCCTCTCCACACCCC	0.622																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(961-963)Ctc>Ttc		lipin 3							34.0	36.0	36.0					20																	39978896		2203	4300	6503	SO:0001583	missense	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39978896C>T	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.961C>T	20.37:g.39978896C>T	ENSP00000362354:p.Leu321Phe						p.L321F	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN			7	1052	+		Myeloproliferative disorder(115;0.000739)	321					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	ENST00000373257.3	37	c.961C>T	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.925579	0.34002	.	.	ENSG00000132793	ENST00000373257	T	0.81163	-1.46	4.9	3.94	0.45596	.	0.855598	0.10383	N	0.681362	T	0.75369	0.3840	L	0.52126	1.63	0.09310	N	1	B;B	0.13145	0.004;0.007	B;B	0.15484	0.013;0.005	T	0.61476	-0.7055	9	.	.	.	-17.9902	11.0029	0.47616	0.3365:0.6635:0.0:0.0	.	322;321	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	F	321	ENSP00000362354:L321F	.	L	+	1	0	LPIN3	39412310	0.000000	0.05858	0.157000	0.22605	0.476000	0.33039	-0.679000	0.05203	1.341000	0.45600	0.561000	0.74099	CTC		0.622	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		6	20	0	0	0	1	0	6	20				
PDGFRA	5156	broad.mit.edu	37	4	55133465	55133465	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:55133465G>A	ENST00000257290.5	+	6	1100	c.769G>A	c.(769-771)Ggc>Agc	p.G257S	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	257	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GAAAGGCAAAGGCATCACAAT	0.443			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(769-771)Ggc>Agc		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						94.0	99.0	97.0					4																	55133465		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55133465G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.769G>A	4.37:g.55133465G>A	ENSP00000257290:p.Gly257Ser	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron	p.G257S	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		6	1100	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		257			Ig-like C2-type 3.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.769G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851318	0.71719	.	.	ENSG00000134853	ENST00000257290	T	0.65364	-0.15	5.67	5.67	0.87782	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32719	U	0.005739	T	0.75488	0.3856	M	0.76002	2.32	0.80722	D	1	D;D	0.58970	0.968;0.984	P;D	0.63381	0.805;0.914	T	0.69899	-0.5020	10	0.06891	T	0.86	.	19.7557	0.96287	0.0:0.0:1.0:0.0	.	257;257	P16234-3;P16234	.;PGFRA_HUMAN	S	257	ENSP00000257290:G257S	ENSP00000257290:G257S	G	+	1	0	PDGFRA	54828222	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.523000	0.81856	2.681000	0.91329	0.313000	0.20887	GGC		0.443	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		15	29	0	0	0	1	0	15	29				
C12orf5	57103	broad.mit.edu	37	12	4430449	4430449	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:4430449C>T	ENST00000179259.4	+	1	79	c.12C>T	c.(10-12)ttC>ttT	p.F4F		NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	4					intestinal epithelial cell development (GO:0060576)|negative regulation of macromitophagy (GO:1901525)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|response to gamma radiation (GO:0010332)|response to xenobiotic stimulus (GO:0009410)	intracellular (GO:0005622)	fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			TGGCTCGCTTCGCTCTGACTG	0.647																																					Colon(1;100 192 35375 49454 52532)	ENST00000179259.4																			0				endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10						c.(10-12)ttC>ttT		chromosome 12 open reading frame 5							64.0	64.0	64.0					12																	4430449		2203	4300	6503	SO:0001819	synonymous_variant	57103					intracellular	fructose-2,6-bisphosphate 2-phosphatase activity	g.chr12:4430449C>T	AJ272206	CCDS8525.1	12p13.32	2014-05-29	2009-11-24	2009-11-24	ENSG00000078237	ENSG00000078237	3.1.3.46		1185	protein-coding gene	gene with protein product	"""TP53-induced glycolysis and apoptosis regulator"""	610775				16140933, 16839880, 18945750, 19713938	Standard	NM_020375		Approved	TIGAR	uc001qmp.3	Q9NQ88		ENST00000179259.4:c.12C>T	12.37:g.4430449C>T							p.F4F	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)		1	79	+			4					B2R840	Silent	SNP	ENST00000179259.4	37	c.12C>T	CCDS8525.1																																																																																				0.647	C12orf5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398290.1	NM_020375		27	66	0	0	0	1	0	27	66				
SLC38A5	92745	broad.mit.edu	37	X	48325429	48325429	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:48325429G>A	ENST00000376876.3	-	4	1008	c.165C>T	c.(163-165)ttC>ttT	p.F55F	SLC38A5_ENST00000317669.5_Silent_p.F55F|SLC38A5_ENST00000376875.1_Silent_p.F4F			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	55					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						TGCTGAGGTTGAACACTGACA	0.587											OREG0019763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000376876.3																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						c.(163-165)ttC>ttT		solute carrier family 38, member 5							63.0	50.0	54.0					X																	48325429		2203	4300	6503	SO:0001819	synonymous_variant	92745				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chrX:48325429G>A	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.165C>T	X.37:g.48325429G>A			OREG0019763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	953	SLC38A5_ENST00000317669.5_Silent_p.F55F|SLC38A5_ENST00000376875.1_Silent_p.F4F	p.F55F			Q8WUX1	S38A5_HUMAN			4	1008	-			55					B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Silent	SNP	ENST00000376876.3	37	c.165C>T	CCDS14293.1																																																																																				0.587	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518		8	11	0	0	0	1	0	8	11				
HMX3	340784	broad.mit.edu	37	10	124896593	124896593	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:124896593G>A	ENST00000357878.5	+	2	509	c.420G>A	c.(418-420)ctG>ctA	p.L140L		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	140					brain development (GO:0007420)|cell differentiation (GO:0030154)|embryo implantation (GO:0007566)|inner ear morphogenesis (GO:0042472)|maternal process involved in female pregnancy (GO:0060135)|neuromuscular process controlling balance (GO:0050885)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		AGGCCTTGCTGAGAGACTCCT	0.682																																						ENST00000357878.5																			0				lung(4)	4						c.(418-420)ctG>ctA		H6 family homeobox 3							13.0	16.0	15.0					10																	124896593		2121	4248	6369	SO:0001819	synonymous_variant	340784				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr10:124896593G>A		CCDS41575.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188620	ENSG00000188620		"""Homeoboxes / ANTP class : NKL subclass"""	5019	protein-coding gene	gene with protein product		613380	"""homeo box (H6 family) 3"""				Standard	NM_001105574		Approved	NKX5-1	uc010quc.2	A6NHT5	OTTHUMG00000019199	ENST00000357878.5:c.420G>A	10.37:g.124896593G>A							p.L140L	NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)	2	509	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	140					A8MU06	Silent	SNP	ENST00000357878.5	37	c.420G>A	CCDS41575.1																																																																																				0.682	HMX3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050842.4	XM_291716		8	15	0	0	0	1	0	8	15				
RFWD3	55159	broad.mit.edu	37	16	74683082	74683082	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:74683082G>A	ENST00000361070.4	-	4	837	c.740C>T	c.(739-741)tCa>tTa	p.S247L	RFWD3_ENST00000571750.1_Missense_Mutation_p.S247L	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	247					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						TTGCTCTGCTGAGACACCTGC	0.368																																						ENST00000361070.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						c.(739-741)tCa>tTa		ring finger and WD repeat domain 3							90.0	84.0	86.0					16																	74683082		2198	4300	6498	SO:0001583	missense	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74683082G>A	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.740C>T	16.37:g.74683082G>A	ENSP00000354361:p.Ser247Leu					RFWD3_ENST00000571750.1_Missense_Mutation_p.S247L	p.S247L	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN			4	837	-			247					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	c.740C>T	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888389	0.33348	.	.	ENSG00000168411	ENST00000361070	T	0.19806	2.12	5.46	4.51	0.55191	.	0.752579	0.11865	N	0.521979	T	0.20901	0.0503	L	0.60455	1.87	0.32374	N	0.555489	B	0.31680	0.335	B	0.25140	0.058	T	0.14868	-1.0457	10	0.35671	T	0.21	-6.6034	10.207	0.43118	0.0889:0.0:0.9111:0.0	.	247	Q6PCD5	RFWD3_HUMAN	L	247	ENSP00000354361:S247L	ENSP00000354361:S247L	S	-	2	0	RFWD3	73240583	0.602000	0.26916	0.827000	0.32855	0.355000	0.29361	2.137000	0.42130	1.542000	0.49330	-0.150000	0.13652	TCA		0.368	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		8	22	0	0	0	1	0	8	22				
HLA-F	3134	broad.mit.edu	37	6	29691994	29691994	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:29691994G>C	ENST00000376861.1	+	4	763	c.379G>C	c.(379-381)Gac>Cac	p.D127H	HLA-F_ENST00000334668.4_Missense_Mutation_p.D127H|HLA-F_ENST00000440587.2_Missense_Mutation_p.D9H|HLA-F_ENST00000434407.2_Missense_Mutation_p.D127H|HLA-F_ENST00000259951.7_Missense_Mutation_p.D127H			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	127	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CATGGGGCCCGACGGACGCCT	0.692																																						ENST00000440587.2																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(25-27)Gac>Cac		major histocompatibility complex, class I, F							67.0	72.0	71.0					6																	29691994		1509	2709	4218	SO:0001583	missense	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29691994G>C	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.379G>C	6.37:g.29691994G>C	ENSP00000366057:p.Asp127His					HLA-F_ENST00000376861.1_Missense_Mutation_p.D127H|HLA-F_ENST00000259951.7_Missense_Mutation_p.D127H|HLA-F_ENST00000334668.4_Missense_Mutation_p.D127H|HLA-F_ENST00000434407.2_Missense_Mutation_p.D127H	p.D9H			P30511	HLAF_HUMAN			3	384	+			127					Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	37	c.25G>C	CCDS43438.1	.	.	.	.	.	.	.	.	.	.	.	14.41	2.528000	0.44969	.	.	ENSG00000204642	ENST00000376861;ENST00000414333;ENST00000449921;ENST00000334668;ENST00000259951;ENST00000440587;ENST00000434407	T;T;T;T;T;T	0.01005	8.99;5.45;8.99;8.99;8.99;8.99	1.63	1.63	0.23807	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.000000	0.37809	U	0.001940	T	0.02848	0.0085	H	0.94462	3.54	0.09310	N	1	B;D;D;D	0.76494	0.17;0.999;0.999;0.999	B;D;D;D	0.77557	0.127;0.97;0.95;0.99	T	0.22243	-1.0222	10	0.87932	D	0	.	6.5823	0.22602	0.0:0.0:1.0:0.0	.	127;127;127;127	A8MVU7;P30511;P30511-3;P30511-2	.;HLAF_HUMAN;.;.	H	127;127;104;127;127;9;127	ENSP00000366057:D127H;ENSP00000389590:D127H;ENSP00000334263:D127H;ENSP00000259951:D127H;ENSP00000404130:D9H;ENSP00000397376:D127H	ENSP00000259951:D127H	D	+	1	0	HLA-F	29799973	0.022000	0.18835	0.045000	0.18777	0.129000	0.20672	0.627000	0.24506	0.871000	0.35750	0.436000	0.28706	GAC		0.692	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		11	65	0	0	0	1	0	11	65				
STX17	55014	broad.mit.edu	37	9	102677524	102677524	+	Start_Codon_SNP	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:102677524G>A	ENST00000259400.6	+	2	139	c.3G>A	c.(1-3)atG>atA	p.M1I	RP11-60I3.4_ENST00000524512.1_RNA|STX17_ENST00000534052.1_Start_Codon_SNP_p.M1I|STX17_ENST00000525640.1_Start_Codon_SNP_p.M1I	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	1					autophagic vacuole fusion (GO:0000046)|endoplasmic reticulum-Golgi intermediate compartment organization (GO:0097111)|ER to Golgi vesicle-mediated transport (GO:0006888)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|protein localization to pre-autophagosomal structure (GO:0034497)	autophagic vacuole membrane (GO:0000421)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle (GO:0030134)|ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|smooth endoplasmic reticulum membrane (GO:0030868)|SNARE complex (GO:0031201)	protein phosphatase binding (GO:0019903)|SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TTTTTAGGATGTCTGAAGATG	0.343																																						ENST00000259400.6																			0				endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(1-3)atG>atA		syntaxin 17							106.0	106.0	106.0					9																	102677524		2203	4300	6503	SO:0001582	initiator_codon_variant	55014				intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity	g.chr9:102677524G>A	AL834371	CCDS6745.1	9q31.1	2008-02-05			ENSG00000136874	ENSG00000136874			11432	protein-coding gene	gene with protein product		604204				9852078	Standard	NM_017919		Approved	FLJ20651	uc004bal.4	P56962	OTTHUMG00000020359	ENST00000259400.6:c.3G>A	9.37:g.102677524G>A	ENSP00000259400:p.Met1Ile					STX17_ENST00000534052.1_Start_Codon_SNP_p.M1I|STX17_ENST00000525640.1_Start_Codon_SNP_p.M1I|RP11-60I3.4_ENST00000524512.1_RNA	p.M1I	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN			2	139	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	1					Q4VXC2	Translation_Start_Site	SNP	ENST00000259400.6	37	c.3G>A	CCDS6745.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388504	0.82902	.	.	ENSG00000136874	ENST00000259400;ENST00000531035;ENST00000525640;ENST00000534052;ENST00000526607	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.60586	0.2280	.	.	.	0.80722	D	1	P;P	0.47191	0.826;0.891	B;P	0.45610	0.38;0.487	T	0.65713	-0.6101	8	0.66056	D;D	0.02;0.02	-16.6501	15.852	0.78940	0.0:0.0:1.0:0.0	.	1;1	P56962;B4DJ69	STX17_HUMAN;.	I	1	.	ENSP00000259400:M1I;ENSP00000259400:M1I	M	+	3	0	STX17	101717345	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.762000	0.74950	2.601000	0.87937	0.655000	0.94253	ATG		0.343	STX17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053398.3	NM_017919	Missense_Mutation	8	35	0	0	0	1	0	8	35				
GAS8	2622	broad.mit.edu	37	16	90103732	90103732	+	Silent	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:90103732C>G	ENST00000268699.4	+	7	971	c.849C>G	c.(847-849)ctC>ctG	p.L283L	GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Silent_p.L258L	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	283					cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CAGACCCTCTCCAGAAGGCTC	0.587																																						ENST00000268699.4																			0				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(847-849)ctC>ctG		growth arrest-specific 8							62.0	61.0	61.0					16																	90103732		2198	4300	6498	SO:0001819	synonymous_variant	2622				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	g.chr16:90103732C>G	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.849C>G	16.37:g.90103732C>G						GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Silent_p.L258L	p.L283L	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.029)	7	971	+		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	283					B2RCT1|B7Z4U1|G3V1L5|Q2M234	Silent	SNP	ENST00000268699.4	37	c.849C>G	CCDS10992.1																																																																																				0.587	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			7	12	0	0	0	1	0	7	12				
UTP20	27340	broad.mit.edu	37	12	101766734	101766734	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:101766734C>G	ENST00000261637.4	+	52	7045	c.6871C>G	c.(6871-6873)Caa>Gaa	p.Q2291E		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2291					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CATGCTCGCTCAACTGAAGTA	0.413																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(6871-6873)Caa>Gaa		UTP20, small subunit (SSU) processome component, homolog (yeast)							103.0	95.0	97.0					12																	101766734		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101766734C>G	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6871C>G	12.37:g.101766734C>G	ENSP00000261637:p.Gln2291Glu						p.Q2291E	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			52	7045	+			2291					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.6871C>G	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804352	0.90623	.	.	ENSG00000120800	ENST00000261637	T	0.64991	-0.13	5.77	5.77	0.91146	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80644	0.4662	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.81553	-0.0880	10	0.66056	D	0.02	-17.9013	19.9795	0.97321	0.0:1.0:0.0:0.0	.	2291	O75691	UTP20_HUMAN	E	2291	ENSP00000261637:Q2291E	ENSP00000261637:Q2291E	Q	+	1	0	UTP20	100290865	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.401000	0.73256	2.720000	0.93068	0.650000	0.86243	CAA		0.413	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		9	16	0	0	0	1	0	9	16				
PCDH7	5099	broad.mit.edu	37	4	30724513	30724513	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:30724513C>G	ENST00000361762.2	+	1	2477	c.1469C>G	c.(1468-1470)tCg>tGg	p.S490W	PCDH7_ENST00000543491.1_Missense_Mutation_p.S490W	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	490	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TTGCACACCTCGACCCCTCTG	0.612																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(1468-1470)tCg>tGg		protocadherin 7							95.0	73.0	80.0					4																	30724513		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30724513C>G	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1469C>G	4.37:g.30724513C>G	ENSP00000355243:p.Ser490Trp					PCDH7_ENST00000543491.1_Missense_Mutation_p.S490W	p.S490W	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	2477	+			490			Cadherin 4.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.1469C>G	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897598	0.52121	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.52526	0.66;0.66	5.26	5.26	0.73747	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.70491	0.3230	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.73322	-0.4019	9	0.87932	D	0	.	19.0611	0.93093	0.0:1.0:0.0:0.0	.	490;443;490	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	W	490;490;443	ENSP00000355243:S490W;ENSP00000441802:S490W	ENSP00000330302:S443W	S	+	2	0	PCDH7	30333611	1.000000	0.71417	0.996000	0.52242	0.851000	0.48451	5.809000	0.69172	2.735000	0.93741	0.655000	0.94253	TCG		0.612	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		11	34	0	0	0	1	0	11	34				
GRIA1	2890	broad.mit.edu	37	5	152873564	152873564	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:152873564G>A	ENST00000285900.5	+	2	502	c.159G>A	c.(157-159)ccG>ccA	p.P53P	GRIA1_ENST00000340592.5_Silent_p.P53P|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518783.1_Silent_p.P63P|GRIA1_ENST00000521843.2_5'UTR|GRIA1_ENST00000448073.4_Silent_p.P63P|GRIA1_ENST00000518142.1_Silent_p.P53P	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	53					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CAGAGCCCCCGAAGCTGCTCC	0.433																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(157-159)ccG>ccA		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						94.0	94.0	94.0					5																	152873564		2203	4300	6503	SO:0001819	synonymous_variant	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:152873564G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.159G>A	5.37:g.152873564G>A						GRIA1_ENST00000518783.1_Silent_p.P63P|GRIA1_ENST00000518142.1_Silent_p.P53P|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000448073.4_Silent_p.P63P|GRIA1_ENST00000521843.2_5'UTR|GRIA1_ENST00000340592.5_Silent_p.P53P	p.P53P	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		2	502	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	53					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.159G>A	CCDS4322.1																																																																																				0.433	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			12	48	0	0	0	1	0	12	48				
IDE	3416	broad.mit.edu	37	10	94225476	94225476	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:94225476G>C	ENST00000265986.6	-	20	2501	c.2445C>G	c.(2443-2445)atC>atG	p.I815M	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.I260M	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	815					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	AAGGTTCCGAGATAATCTGAC	0.443																																						ENST00000265986.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.(2443-2445)atC>atG		insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						159.0	152.0	154.0					10																	94225476		2203	4300	6503	SO:0001583	missense	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94225476G>C	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.2445C>G	10.37:g.94225476G>C	ENSP00000265986:p.Ile815Met					IDE_ENST00000371581.5_Missense_Mutation_p.I260M|IDE_ENST00000496903.1_5'UTR	p.I815M	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN			20	2501	-			815					B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	c.2445C>G	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808333	0.50421	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.08720	3.06;3.06	6.02	4.2	0.49525	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.17195	0.0413	L	0.42581	1.335	0.80722	D	1	D;D	0.71674	0.992;0.998	D;D	0.79108	0.953;0.992	T	0.06197	-1.0840	10	0.08599	T	0.76	-13.1617	12.8511	0.57858	0.1311:0.0:0.8689:0.0	.	815;260	P14735;B3KSB8	IDE_HUMAN;.	M	815;260	ENSP00000265986:I815M;ENSP00000360637:I260M	ENSP00000265986:I815M	I	-	3	3	IDE	94215456	1.000000	0.71417	0.998000	0.56505	0.171000	0.22731	4.532000	0.60608	0.892000	0.36259	0.650000	0.86243	ATC		0.443	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		8	28	0	0	0	1	0	8	28				
NRXN3	9369	broad.mit.edu	37	14	80271515	80271515	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:80271515G>C	ENST00000557594.1	+	5	1923	c.970G>C	c.(970-972)Gaa>Caa	p.E324Q	NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.E354Q|NRXN3_ENST00000281127.7_Missense_Mutation_p.E324Q|NRXN3_ENST00000335750.5_Missense_Mutation_p.E956Q|NRXN3_ENST00000554719.1_Missense_Mutation_p.E956Q	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	324					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AGACTTTGTTGAATGTGAGCC	0.358																																						ENST00000281127.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(970-972)Gaa>Caa		neurexin 3							268.0	232.0	244.0					14																	80271515		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:80271515G>C	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.970G>C	14.37:g.80271515G>C	ENSP00000451672:p.Glu324Gln					NRXN3_ENST00000335750.5_Missense_Mutation_p.E956Q|NRXN3_ENST00000554719.1_Missense_Mutation_p.E956Q|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000557594.1_Missense_Mutation_p.E324Q|NRXN3_ENST00000428277.2_Missense_Mutation_p.E354Q	p.E324Q	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	5	1849	+		Renal(4;0.00876)	324					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.970G>C		.	.	.	.	.	.	.	.	.	.	G	22.5	4.297355	0.81025	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.69175	-0.38;-0.38;1.19;1.4;1.14	5.41	5.41	0.78517	.	0.123229	0.53938	D	0.000054	T	0.78773	0.4336	L	0.54323	1.7	0.54753	D	0.999985	P;D;B;B	0.69078	0.955;0.997;0.0;0.044	P;D;B;B	0.70716	0.898;0.97;0.005;0.067	T	0.76828	-0.2815	9	.	.	.	.	19.2087	0.93746	0.0:0.0:1.0:0.0	.	354;324;324;956	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	Q	1329;1348;956;956;324;324;354	ENSP00000451648:E956Q;ENSP00000338349:E956Q;ENSP00000451672:E324Q;ENSP00000281127:E324Q;ENSP00000394426:E354Q	.	E	+	1	0	NRXN3	79341268	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	6.024000	0.70857	2.532000	0.85374	0.650000	0.86243	GAA		0.358	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		36	39	0	0	0	1	0	36	39				
MED12L	116931	broad.mit.edu	37	3	151095916	151095916	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:151095916T>A	ENST00000474524.1	+	29	4366	c.4328T>A	c.(4327-4329)tTg>tAg	p.L1443*	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Nonsense_Mutation_p.L1303*	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1443						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGACAGCACTTGGGTTCTTCT	0.507																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(4327-4329)tTg>tAg		mediator complex subunit 12-like							66.0	61.0	62.0					3																	151095916		2203	4300	6503	SO:0001587	stop_gained	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151095916T>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4328T>A	3.37:g.151095916T>A	ENSP00000417235:p.Leu1443*					P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Nonsense_Mutation_p.L1303*	p.L1443*	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		29	4366	+			1443					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Nonsense_Mutation	SNP	ENST00000474524.1	37	c.4328T>A	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	T	45	11.756883	0.99599	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	.	.	.	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2824	15.6944	0.77484	0.0:0.0:0.0:1.0	.	.	.	.	X	1443;1303	.	ENSP00000273432:L1303X	L	+	2	0	MED12L	152578606	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.351000	0.79395	2.197000	0.70478	0.533000	0.62120	TTG		0.507	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		8	21	0	0	0	1	0	8	21				
MMP15	4324	broad.mit.edu	37	16	58076194	58076194	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:58076194C>T	ENST00000219271.3	+	7	2009	c.1224C>T	c.(1222-1224)atC>atT	p.I408I		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	408					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	CCATGCCCATCGGGCACTTCT	0.612																																						ENST00000219271.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1222-1224)atC>atT		matrix metallopeptidase 15 (membrane-inserted)							91.0	81.0	84.0					16																	58076194		2198	4300	6498	SO:0001819	synonymous_variant	4324				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:58076194C>T	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1224C>T	16.37:g.58076194C>T							p.I408I	NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN			7	2009	+			408			Hemopexin-like 1.		A0A2U6|Q14111	Silent	SNP	ENST00000219271.3	37	c.1224C>T	CCDS10792.1																																																																																				0.612	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		12	36	0	0	0	1	0	12	36				
PNMA2	10687	broad.mit.edu	37	8	26366052	26366052	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr8:26366052C>T	ENST00000522362.2	-	3	1114	c.220G>A	c.(220-222)Gat>Aat	p.D74N	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	74					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		gccgagacatcagtatcttcc	0.478																																						ENST00000522362.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11						c.(220-222)Gat>Aat		paraneoplastic Ma antigen 2							75.0	75.0	75.0					8																	26366052		2203	4300	6503	SO:0001583	missense	10687				apoptosis	nucleolus	protein binding	g.chr8:26366052C>T		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.220G>A	8.37:g.26366052C>T	ENSP00000429344:p.Asp74Asn						p.D74N	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)	3	1114	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	74					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	ENST00000522362.2	37	c.220G>A	CCDS34868.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.666111	0.00765	.	.	ENSG00000240694	ENST00000522362	T	0.07327	3.2	3.77	2.88	0.33553	.	.	.	.	.	T	0.03564	0.0102	N	0.11131	0.1	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.43327	-0.9398	9	0.02654	T	1	-25.2921	7.2674	0.26237	0.0:0.8788:0.0:0.1212	.	74	Q9UL42	PNMA2_HUMAN	N	74	ENSP00000429344:D74N	ENSP00000429344:D74N	D	-	1	0	PNMA2	26421969	0.015000	0.18098	0.011000	0.14972	0.073000	0.16967	0.945000	0.29056	1.152000	0.42452	0.563000	0.77884	GAT		0.478	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257		9	52	0	0	0	1	0	9	52				
VWF	7450	broad.mit.edu	37	12	6134769	6134769	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:6134769C>T	ENST00000261405.5	-	24	3453	c.3199G>A	c.(3199-3201)Gtc>Atc	p.V1067I		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1067	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCCTGGAAGACGTCACTGGTA	0.552																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(3199-3201)Gtc>Atc		von Willebrand factor	Antihemophilic Factor(DB00025)						31.0	30.0	30.0					12																	6134769		2203	4297	6500	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6134769C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.3199G>A	12.37:g.6134769C>T	ENSP00000261405:p.Val1067Ile						p.V1067I	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			24	3453	-			1067			VWFD 3.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.3199G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.546706	0.00926	.	.	ENSG00000110799	ENST00000261405	T	0.77229	-1.08	4.6	-9.2	0.00682	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	1.811320	0.03195	N	0.173913	T	0.61664	0.2365	N	0.21448	0.665	0.09310	N	0.999998	B	0.14012	0.009	B	0.06405	0.002	T	0.55823	-0.8080	10	0.14252	T	0.57	.	13.6427	0.62260	0.0:0.4159:0.4647:0.1193	.	1067	P04275	VWF_HUMAN	I	1067	ENSP00000261405:V1067I	ENSP00000261405:V1067I	V	-	1	0	VWF	6005030	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	-0.999000	0.03697	-3.638000	0.00128	-0.258000	0.10820	GTC		0.552	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		3	11	0	0	0	1	0	3	11				
MAP3K6	9064	broad.mit.edu	37	1	27686843	27686843	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:27686843G>C	ENST00000493901.1	-	17	2310	c.2071C>G	c.(2071-2073)Cat>Gat	p.H691D	MAP3K6_ENST00000374040.3_Missense_Mutation_p.H683D|MAP3K6_ENST00000357582.2_Missense_Mutation_p.H691D	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	691	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ATCTCTTCATGCAGGGGCTGA	0.617																																						ENST00000374040.3																			0				breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10						c.(2047-2049)Cat>Gat		mitogen-activated protein kinase kinase kinase 6							63.0	63.0	63.0					1																	27686843		2203	4300	6503	SO:0001583	missense	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27686843G>C	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.2071C>G	1.37:g.27686843G>C	ENSP00000419591:p.His691Asp					MAP3K6_ENST00000493901.1_Missense_Mutation_p.H691D|MAP3K6_ENST00000357582.2_Missense_Mutation_p.H691D	p.H683D			O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	15	2307	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	691			Protein kinase.		A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	37	c.2047C>G	CCDS299.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.8|24.8	4.576079|4.576079	0.86645|0.86645	.|.	.|.	ENSG00000142733|ENSG00000142733	ENST00000472410|ENST00000374040;ENST00000493901;ENST00000545447;ENST00000357582	.|T;T;T	.|0.64618	.|-0.11;-0.11;-0.11	5.06|5.06	5.06|5.06	0.68205|0.68205	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|.	.|.	.|.	.|.	T|T	0.64605|0.64605	0.2613|0.2613	N|N	0.11673|0.11673	0.155|0.155	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.76494	.|0.998;0.999	.|D;D	.|0.81914	.|0.991;0.995	T|T	0.72593|0.72593	-0.4246|-0.4246	5|9	.|0.87932	.|D	.|0	.|.	17.3441|17.3441	0.87305|0.87305	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|683;691	.|O95382-3;O95382	.|.;M3K6_HUMAN	W|D	414|683;691;414;691	.|ENSP00000363152:H683D;ENSP00000419591:H691D;ENSP00000350195:H691D	.|ENSP00000350195:H691D	C|H	-|-	3|1	2|0	MAP3K6|MAP3K6	27559430|27559430	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.892000|0.892000	0.51952|0.51952	9.085000|9.085000	0.94083|0.94083	2.636000|2.636000	0.89361|0.89361	0.561000|0.561000	0.74099|0.74099	TGC|CAT		0.617	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		6	32	0	0	0	1	0	6	32				
TRIP10	9322	broad.mit.edu	37	19	6744700	6744700	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:6744700G>A	ENST00000313244.9	+	8	813	c.778G>A	c.(778-780)Gat>Aat	p.D260N	TRIP10_ENST00000600428.1_Missense_Mutation_p.D152N|TRIP10_ENST00000313285.8_Missense_Mutation_p.D260N|TRIP10_ENST00000596758.1_Missense_Mutation_p.D260N			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	260	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.D260N(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AAATGCTGTGGATCCCAAGAA	0.622																																						ENST00000600428.1																			1	Substitution - Missense(1)	p.D260N(1)	ovary(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(454-456)Gat>Aat		thyroid hormone receptor interactor 10							127.0	115.0	119.0					19																	6744700		2203	4300	6503	SO:0001583	missense	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6744700G>A	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.778G>A	19.37:g.6744700G>A	ENSP00000320117:p.Asp260Asn					TRIP10_ENST00000313244.9_Missense_Mutation_p.D260N|TRIP10_ENST00000313285.8_Missense_Mutation_p.D260N|TRIP10_ENST00000596758.1_Missense_Mutation_p.D260N	p.D152N			Q15642	CIP4_HUMAN			8	1100	+			260			Induction of membrane tubulation.		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	ENST00000313244.9	37	c.454G>A		.	.	.	.	.	.	.	.	.	.	G	12.55	1.972526	0.34848	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.52057	0.68;2.32	4.97	1.66	0.24008	.	0.216607	0.46758	N	0.000278	T	0.37625	0.1010	N	0.10874	0.06	0.35555	D	0.804224	B;D;B	0.58970	0.409;0.984;0.004	B;P;B	0.60473	0.173;0.875;0.003	T	0.38373	-0.9664	10	0.18710	T	0.47	-12.9655	7.4353	0.27152	0.2721:0.0:0.7279:0.0	.	260;260;260	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	N	260	ENSP00000320493:D260N;ENSP00000320117:D260N	ENSP00000320117:D260N	D	+	1	0	TRIP10	6695700	1.000000	0.71417	0.984000	0.44739	0.864000	0.49448	2.045000	0.41250	0.233000	0.21120	0.462000	0.41574	GAT		0.622	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			21	57	0	0	0	1	0	21	57				
NKX3-2	579	broad.mit.edu	37	4	13543912	13543912	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:13543912C>T	ENST00000382438.5	-	2	1342	c.707G>A	c.(706-708)cGc>cAc	p.R236H		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	236					determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|intestinal epithelial cell development (GO:0060576)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|organ formation (GO:0048645)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|spleen development (GO:0048536)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CAGGTCTGCGCGCTCGGGCCC	0.652																																						ENST00000382438.5																			0				breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(706-708)cGc>cAc		NK3 homeobox 2							9.0	11.0	11.0					4																	13543912		2166	4294	6460	SO:0001583	missense	579				negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:13543912C>T	AF009801	CCDS3410.1	4p16.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000109705	ENSG00000109705		"""Homeoboxes / ANTP class : NKL subclass"""	951	protein-coding gene	gene with protein product		602183	"""bagpipe homeobox homolog 1 (Drosophila)"""	BAPX1		9344671	Standard	NM_001189		Approved	NKX3B, NKX3.2	uc003gmx.2	P78367	OTTHUMG00000090657	ENST00000382438.5:c.707G>A	4.37:g.13543912C>T	ENSP00000371875:p.Arg236His						p.R236H	NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN			2	1342	-			236					Q2M2I7	Missense_Mutation	SNP	ENST00000382438.5	37	c.707G>A	CCDS3410.1	.	.	.	.	.	.	.	.	.	.	C	36	5.836229	0.97009	.	.	ENSG00000109705	ENST00000382438	D	0.97505	-4.41	5.37	5.37	0.77165	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.123047	0.53938	D	0.000043	D	0.99171	0.9713	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98942	1.0791	10	0.87932	D	0	.	17.6651	0.88201	0.0:1.0:0.0:0.0	.	236	P78367	NKX32_HUMAN	H	236	ENSP00000371875:R236H	ENSP00000371875:R236H	R	-	2	0	NKX3-2	13153010	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.649000	0.83500	2.524000	0.85096	0.561000	0.74099	CGC		0.652	NKX3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207317.3			4	7	0	0	0	1	0	4	7				
HIPK1	204851	broad.mit.edu	37	1	114499369	114499369	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:114499369C>T	ENST00000369558.1	+	6	1760	c.1528C>T	c.(1528-1530)Cta>Tta	p.L510L	HIPK1_ENST00000369559.4_Silent_p.L510L|HIPK1_ENST00000369555.2_Silent_p.L510L|HIPK1_ENST00000340480.4_Silent_p.L136L|HIPK1_ENST00000369561.4_Silent_p.L510L|HIPK1_ENST00000369554.2_Silent_p.L510L|HIPK1_ENST00000406344.1_Silent_p.L116L|HIPK1_ENST00000426820.2_Silent_p.L510L|HIPK1_ENST00000369553.1_Silent_p.L116L			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	510	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATTACCCCTCTAAAAACTCT	0.408																																						ENST00000369558.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(1528-1530)Cta>Tta		homeodomain interacting protein kinase 1							108.0	109.0	108.0					1																	114499369		2203	4300	6503	SO:0001819	synonymous_variant	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114499369C>T	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.1528C>T	1.37:g.114499369C>T						HIPK1_ENST00000369561.4_Silent_p.L510L|HIPK1_ENST00000426820.2_Silent_p.L510L|HIPK1_ENST00000369554.2_Silent_p.L510L|HIPK1_ENST00000369553.1_Silent_p.L116L|HIPK1_ENST00000369559.4_Silent_p.L510L|HIPK1_ENST00000340480.4_Silent_p.L136L|HIPK1_ENST00000406344.1_Silent_p.L116L|HIPK1_ENST00000369555.2_Silent_p.L510L	p.L510L			Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1760	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	510			Protein kinase.		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Silent	SNP	ENST00000369558.1	37	c.1528C>T	CCDS867.1																																																																																				0.408	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		9	34	0	0	0	1	0	9	34				
KCNJ5	3762	broad.mit.edu	37	11	128782077	128782077	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:128782077C>T	ENST00000338350.4	+	3	1261	c.909C>T	c.(907-909)gtC>gtT	p.V303V	KCNJ5_ENST00000533599.1_Silent_p.V303V|KCNJ5_ENST00000529694.1_Silent_p.V303V			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	303					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	AAGTTGTGGTCATTCTAGAAG	0.517																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	ENST00000529694.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(907-909)gtC>gtT		potassium inwardly-rectifying channel, subfamily J, member 5	Glibenclamide(DB01016)						98.0	91.0	93.0					11																	128782077		2201	4297	6498	SO:0001819	synonymous_variant	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128782077C>T	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.909C>T	11.37:g.128782077C>T						KCNJ5_ENST00000533599.1_Silent_p.V303V|KCNJ5_ENST00000338350.4_Silent_p.V303V	p.V303V	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	1285	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	303					B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	ENST00000338350.4	37	c.909C>T	CCDS8479.1																																																																																				0.517	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		23	59	0	0	0	1	0	23	59				
CDC25C	995	broad.mit.edu	37	5	137654985	137654985	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:137654985G>A	ENST00000323760.6	-	7	816	c.538C>T	c.(538-540)Cca>Tca	p.P180S	CDC25C_ENST00000415130.2_Missense_Mutation_p.P107S|CDC25C_ENST00000356505.3_Missense_Mutation_p.P150S|CDC25C_ENST00000513970.1_Missense_Mutation_p.P180S|CDC25C_ENST00000514555.1_Missense_Mutation_p.P150S|CDC25C_ENST00000348983.3_Missense_Mutation_p.P107S|CDC25C_ENST00000357274.3_Missense_Mutation_p.P137S	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	180					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCTAGGTTTGGATTTTTATCC	0.378																																						ENST00000323760.6																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16						c.(538-540)Cca>Tca		cell division cycle 25C							132.0	129.0	130.0					5																	137654985		2203	4299	6502	SO:0001583	missense	995				cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding	g.chr5:137654985G>A	M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1727	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 60"""	157680	"""cell division cycle 25C"", ""cell division cycle 25 homolog C (S. cerevisiae)"", ""cell division cycle 25 homolog C (S. pombe)"""	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.538C>T	5.37:g.137654985G>A	ENSP00000321656:p.Pro180Ser					CDC25C_ENST00000415130.2_Missense_Mutation_p.P107S|CDC25C_ENST00000357274.3_Missense_Mutation_p.P137S|CDC25C_ENST00000356505.3_Missense_Mutation_p.P150S|CDC25C_ENST00000348983.3_Missense_Mutation_p.P107S|CDC25C_ENST00000514555.1_Missense_Mutation_p.P150S|CDC25C_ENST00000513970.1_Missense_Mutation_p.P180S	p.P180S	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		7	816	-			180					D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Missense_Mutation	SNP	ENST00000323760.6	37	c.538C>T	CCDS4202.1	.	.	.	.	.	.	.	.	.	.	G	1.558	-0.537374	0.04082	.	.	ENSG00000158402	ENST00000323760;ENST00000356505;ENST00000357274;ENST00000348983;ENST00000415130;ENST00000513970;ENST00000534892;ENST00000514555;ENST00000503022	T;T;T;T;T;T;T;T	0.23552	2.56;2.58;1.97;2.0;2.0;2.56;2.58;1.9	4.71	1.77	0.24775	.	0.980497	0.08334	N	0.961813	T	0.24122	0.0584	L	0.56769	1.78	0.09310	N	1	B;B;B;B;B	0.33583	0.002;0.001;0.006;0.418;0.001	B;B;B;B;B	0.30855	0.004;0.002;0.005;0.121;0.002	T	0.23762	-1.0179	10	0.51188	T	0.08	0.182	6.5295	0.22320	0.102:0.3801:0.5179:0.0	.	197;137;150;107;180	G3V1P6;P30307-3;P30307-2;P30307-4;P30307	.;.;.;.;MPIP3_HUMAN	S	180;150;137;107;107;180;197;150;180	ENSP00000321656:P180S;ENSP00000348898:P150S;ENSP00000349821:P137S;ENSP00000345205:P107S;ENSP00000392631:P107S;ENSP00000424795:P180S;ENSP00000425470:P150S;ENSP00000427251:P180S	ENSP00000321656:P180S	P	-	1	0	CDC25C	137682884	0.002000	0.14202	0.006000	0.13384	0.004000	0.04260	0.067000	0.14510	0.585000	0.29608	-0.253000	0.11424	CCA		0.378	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1			6	17	0	0	0	1	0	6	17				
ENOX1	55068	broad.mit.edu	37	13	43986078	43986078	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr13:43986078C>A	ENST00000261488.6	-	5	759	c.182G>T	c.(181-183)gGg>gTg	p.G61V	ENOX1_ENST00000412891.1_Missense_Mutation_p.G61V	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	61					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TCCAGGCAACCCTACGGGAAC	0.552																																						ENST00000261488.6																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(181-183)gGg>gTg		ecto-NOX disulfide-thiol exchanger 1							115.0	99.0	105.0					13																	43986078		2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43986078C>A	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.182G>T	13.37:g.43986078C>A	ENSP00000261488:p.Gly61Val					ENOX1_ENST00000412891.1_Missense_Mutation_p.G61V	p.G61V	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	5	759	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	61					A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.182G>T	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931109	0.92389	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.53423	0.62;0.62	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.61476	0.2350	L	0.53249	1.67	0.80722	D	1	D	0.64830	0.994	P	0.56865	0.808	T	0.62854	-0.6766	10	0.87932	D	0	-2.4758	18.9867	0.92773	0.0:1.0:0.0:0.0	.	61	Q8TC92	ENOX1_HUMAN	V	61	ENSP00000261488:G61V;ENSP00000415054:G61V	ENSP00000261488:G61V	G	-	2	0	ENOX1	42884078	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.147000	0.77382	2.805000	0.96524	0.460000	0.39030	GGG		0.552	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		19	26	1	0	8.34094e-07	1	8.93672e-07	19	26				
IL21	59067	broad.mit.edu	37	4	123541999	123541999	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:123541999C>A	ENST00000264497.3	-	1	225	c.168G>T	c.(166-168)ttG>ttT	p.L56F	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	49					cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						ATAGTCTTACCAAGTCATTCA	0.313																																						ENST00000264497.3																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						c.e1+1		interleukin 21							98.0	97.0	97.0					4																	123541999		2203	4300	6503	SO:0001630	splice_region_variant	59067				cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding	g.chr4:123541999C>A	AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684		"""Interleukins and interleukin receptors"""	6005	protein-coding gene	gene with protein product		605384				11081504, 17947662	Standard	NM_001207006		Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.168+1G>T	4.37:g.123541999C>A						IL21-AS1_ENST00000417927.1_RNA	p.L56_splice	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN			1	225	-			49					A5J0L4	Splice_Site	SNP	ENST00000264497.3	37	c.168_splice	CCDS3727.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274192	0.59649	.	.	ENSG00000138684	ENST00000264497	.	.	.	5.53	5.53	0.82687	.	0.440885	0.18771	N	0.131604	T	0.71484	0.3345	M	0.64997	1.995	0.40559	D	0.981197	D;D	0.76494	0.999;0.999	D;D	0.79108	0.987;0.992	T	0.70941	-0.4735	8	.	.	.	-6.4829	11.8722	0.52527	0.0:0.9211:0.0:0.0789	.	49;49	Q9HBE4-2;Q9HBE4	.;IL21_HUMAN	F	56	.	.	L	-	3	2	IL21	123761449	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.114000	0.50383	2.605000	0.88082	0.655000	0.94253	TTG		0.313	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256713.1	NM_021803	Missense_Mutation	13	20	1	0	1.5842e-08	1	1.72938e-08	13	20				
NEURL1	9148	broad.mit.edu	37	10	105331513	105331513	+	Missense_Mutation	SNP	C	C	T	rs144450414		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:105331513C>T	ENST00000369780.4	+	3	992	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C	NEURL_ENST00000369777.2_Missense_Mutation_p.R178C|NEURL_ENST00000465048.1_3'UTR	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		195	NHR 1. {ECO:0000255|PROSITE- ProRule:PRU00400}.				brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CAGCGGGGTCCGCACGGCCGA	0.652																																						ENST00000369780.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(583-585)Cgc>Tgc					CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	124.0	86.0	99.0		583	4.7	1.0	10	dbSNP_134	99	0,8600		0,0,4300	no	missense	NEURL	NM_004210.4	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	195/575	105331513	1,13005	2203	4300	6503	SO:0001583	missense	9148				nervous system development	perinuclear region of cytoplasm	zinc ion binding	g.chr10:105331513C>T																												ENST00000369780.4:c.583C>T	10.37:g.105331513C>T	ENSP00000358795:p.Arg195Cys					NEURL_ENST00000465048.1_3'UTR|NEURL_ENST00000369777.2_Missense_Mutation_p.R178C	p.R195C	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)	3	992	+			195			NHR 1.		Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Missense_Mutation	SNP	ENST00000369780.4	37	c.583C>T	CCDS7551.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715030	0.68844	2.27E-4	0.0	ENSG00000107954	ENST00000369780;ENST00000437579;ENST00000369777	T;T	0.30182	1.54;1.54	5.64	4.7	0.59300	NEUZ (1);	0.051886	0.85682	N	0.000000	T	0.41050	0.1142	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	P	0.62435	0.902	T	0.27054	-1.0085	10	0.62326	D	0.03	-16.8859	8.4983	0.33141	0.158:0.7555:0.0:0.0864	.	195	O76050	NEU1A_HUMAN	C	195;178;178	ENSP00000358795:R195C;ENSP00000358792:R178C	ENSP00000358792:R178C	R	+	1	0	NEURL	105321503	0.991000	0.36638	1.000000	0.80357	0.881000	0.50899	3.392000	0.52537	1.281000	0.44480	-0.367000	0.07326	CGC		0.652	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			17	48	0	0	0	1	0	17	48				
OR51B5	282763	broad.mit.edu	37	11	5364075	5364075	+	Missense_Mutation	SNP	G	G	T	rs371637413		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:5364075G>T	ENST00000300773.2	-	1	734	c.680C>A	c.(679-681)gCc>gAc	p.A227D	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	227					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTCTGGAGGCAATGCTCAG	0.443																																						ENST00000300773.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28						c.(679-681)gCc>gAc		olfactory receptor, family 51, subfamily B, member 5							116.0	112.0	114.0					11																	5364075		2201	4297	6498	SO:0001583	missense	282763				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5364075G>T	BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.680C>A	11.37:g.5364075G>T	ENSP00000300773:p.Ala227Asp					HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.A227D	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	734	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	227					B2RN59	Missense_Mutation	SNP	ENST00000300773.2	37	c.680C>A	CCDS31378.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920352	0.52653	.	.	ENSG00000242180	ENST00000300773	T	0.38240	1.15	4.92	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	0.171410	0.27027	N	0.021289	T	0.64735	0.2625	H	0.94964	3.605	0.09310	N	1	D	0.57257	0.979	D	0.67103	0.949	T	0.64313	-0.6437	10	0.87932	D	0	.	6.9775	0.24683	0.091:0.1771:0.7319:0.0	.	227	Q9H339	O51B5_HUMAN	D	227	ENSP00000300773:A227D	ENSP00000300773:A227D	A	-	2	0	OR51B5	5320651	0.000000	0.05858	0.980000	0.43619	0.996000	0.88848	0.931000	0.28871	2.570000	0.86706	0.650000	0.86243	GCC		0.443	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567		12	39	1	0	0.00010058	1	0.000105258	12	39				
ZNF492	57615	broad.mit.edu	37	19	22836775	22836775	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:22836775C>A	ENST00000456783.2	+	3	332	c.88C>A	c.(88-90)Cct>Act	p.P30T		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	30	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P30S(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AGGAAAAGAACCTTGGAATGT	0.423																																						ENST00000456783.2																			1	Substitution - Missense(1)	p.P30S(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(88-90)Cct>Act		zinc finger protein 492							97.0	111.0	106.0					19																	22836775		2201	4298	6499	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22836775C>A	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.88C>A	19.37:g.22836775C>A	ENSP00000413660:p.Pro30Thr						p.P30T	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			3	332	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	30			KRAB.		Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.88C>A	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	9.979	1.227512	0.22542	.	.	ENSG00000229676	ENST00000456783	T	0.10668	2.85	0.458	0.458	0.16670	Krueppel-associated box (2);	.	.	.	.	T	0.33847	0.0877	M	0.90483	3.12	0.09310	N	1	D	0.76494	0.999	D	0.69654	0.965	T	0.05903	-1.0857	8	0.66056	D	0.02	.	.	.	.	.	30	Q9P255	ZN492_HUMAN	T	30	ENSP00000413660:P30T	ENSP00000413660:P30T	P	+	1	0	ZNF492	22628615	0.674000	0.27549	0.100000	0.21137	0.091000	0.18340	1.166000	0.31834	0.482000	0.27582	0.484000	0.47621	CCT		0.423	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		11	40	1	0	2.27111e-07	1	2.4528e-07	11	40				
LRP4	4038	broad.mit.edu	37	11	46920136	46920136	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:46920136C>G	ENST00000378623.1	-	7	1011	c.769G>C	c.(769-771)Gat>Cat	p.D257H		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	257	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GACTGGTCATCACAGTCCGCG	0.577																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(769-771)Gat>Cat		low density lipoprotein receptor-related protein 4							165.0	151.0	156.0					11																	46920136		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46920136C>G	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.769G>C	11.37:g.46920136C>G	ENSP00000367888:p.Asp257His						p.D257H	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	7	1011	-			257			LDL-receptor class A 6.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.769G>C	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	33	5.213921	0.95104	.	.	ENSG00000134569	ENST00000378623	T	0.41758	0.99	5.5	5.5	0.81552	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.57961	0.2089	L	0.39566	1.225	0.80722	D	1	D;D	0.76494	0.999;0.991	D;D	0.74348	0.983;0.95	T	0.56962	-0.7892	10	0.52906	T	0.07	.	19.4102	0.94670	0.0:1.0:0.0:0.0	.	302;257	C9JRN7;O75096	.;LRP4_HUMAN	H	257	ENSP00000367888:D257H	ENSP00000367888:D257H	D	-	1	0	LRP4	46876712	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.599000	0.87857	0.655000	0.94253	GAT		0.577	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		36	98	0	0	0	1	0	36	98				
SMCHD1	23347	broad.mit.edu	37	18	2700874	2700874	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr18:2700874G>T	ENST00000320876.6	+	12	1943	c.1605G>T	c.(1603-1605)ttG>ttT	p.L535F	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.L535F	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	535					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AGCTAAAATTGAAAGATAAGA	0.279																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(1603-1605)ttG>ttT		structural maintenance of chromosomes flexible hinge domain containing 1							85.0	86.0	86.0					18																	2700874		1825	4079	5904	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2700874G>T	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.1605G>T	18.37:g.2700874G>T	ENSP00000326603:p.Leu535Phe					SMCHD1_ENST00000261598.8_Missense_Mutation_p.L535F|RP11-703M24.5_ENST00000583546.1_RNA	p.L535F	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			12	1943	+			535					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.1605G>T	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561708	0.27915	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.43688	0.94;0.96	5.16	5.16	0.70880	.	.	.	.	.	T	0.57417	0.2052	L	0.53249	1.67	0.34048	D	0.655817	D	0.76494	0.999	D	0.85130	0.997	T	0.68383	-0.5423	9	0.87932	D	0	.	10.3054	0.43678	0.1231:0.0:0.8768:0.0	.	535	A6NHR9	SMHD1_HUMAN	F	535	ENSP00000326603:L535F;ENSP00000261598:L535F	ENSP00000261598:L535F	L	+	3	2	SMCHD1	2690874	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.212000	0.51145	2.551000	0.86045	0.591000	0.81541	TTG		0.279	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			6	19	1	0	0.0215528	1	0.0219871	6	19				
KMT2B	9757	broad.mit.edu	37	19	36210688	36210688	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:36210688C>T	ENST00000222270.7	+	3	439	c.439C>T	c.(439-441)Cga>Tga	p.R147*	KMT2B_ENST00000420124.1_Nonsense_Mutation_p.R147*|KMT2B_ENST00000341701.1_Nonsense_Mutation_p.R147*|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	147					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R147*(1)									CCTTTTAGGTCGAGCGCCCCG	0.597																																						ENST00000222270.7																			1	Substitution - Nonsense(1)	p.R147*(1)	large_intestine(1)								c.(439-441)Cga>Tga									65.0	72.0	70.0					19																	36210688		1931	4117	6048	SO:0001587	stop_gained	9757							g.chr19:36210688C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.439C>T	19.37:g.36210688C>T	ENSP00000222270:p.Arg147*					WBP7_ENST00000341701.1_Nonsense_Mutation_p.R147*|KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Nonsense_Mutation_p.R147*	p.R147*	NM_014727.1	NP_055542.1					3	439	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Nonsense_Mutation	SNP	ENST00000222270.7	37	c.439C>T	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024107	0.75390	.	.	ENSG00000105663	ENST00000222270;ENST00000420124;ENST00000341701	.	.	.	5.06	3.98	0.46160	.	0.234308	0.22028	N	0.065638	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5709	0.45200	0.0:0.7886:0.2114:0.0	.	.	.	.	X	147	.	ENSP00000222270:R147X	R	+	1	2	AD000671.1	40902528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.174000	0.42482	2.632000	0.89209	0.561000	0.74099	CGA		0.597	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		25	96	0	0	0	1	0	25	96				
TCEAL5	340543	broad.mit.edu	37	X	102528878	102528878	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:102528878T>G	ENST00000372680.1	-	3	908	c.614A>C	c.(613-615)tAt>tCt	p.Y205S		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						acattaaacatATGGGACATC	0.502																																						ENST00000372680.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						c.(613-615)tAt>tCt		transcription elongation factor A (SII)-like 5							78.0	69.0	72.0					X																	102528878		2203	4300	6503	SO:0001583	missense	340543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chrX:102528878T>G		CCDS35356.1	Xq22.2	2014-03-21			ENSG00000204065	ENSG00000204065			22282	protein-coding gene	gene with protein product						16221301	Standard	NM_001012979		Approved	WEX4	uc004ejz.2	Q5H9L2	OTTHUMG00000022092	ENST00000372680.1:c.614A>C	X.37:g.102528878T>G	ENSP00000361765:p.Tyr205Ser						p.Y205S	NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN			3	908	-			205					A2RUJ4	Missense_Mutation	SNP	ENST00000372680.1	37	c.614A>C	CCDS35356.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.242707	0.39598	.	.	ENSG00000204065	ENST00000372680	T	0.35789	1.29	2.66	-0.768	0.11013	.	0.228807	0.22640	N	0.057473	T	0.32912	0.0845	L	0.27053	0.805	0.09310	N	1	D	0.69078	0.997	P	0.57776	0.827	T	0.17561	-1.0365	10	0.87932	D	0	.	5.3952	0.16265	0.6146:0.0:0.0:0.3854	.	205	Q5H9L2	TCAL5_HUMAN	S	205	ENSP00000361765:Y205S	ENSP00000361765:Y205S	Y	-	2	0	TCEAL5	102415534	0.412000	0.25392	0.012000	0.15200	0.871000	0.50021	0.885000	0.28227	-0.199000	0.10317	0.356000	0.21956	TAT		0.502	TCEAL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057696.1	XM_291334		21	38	0	0	0	1	0	21	38				
MYBL2	4605	broad.mit.edu	37	20	42343842	42343842	+	Silent	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr20:42343842C>G	ENST00000217026.4	+	13	2020	c.1893C>G	c.(1891-1893)ctC>ctG	p.L631L	MYBL2_ENST00000396863.4_Silent_p.L607L	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	631					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACAGCTTGCTCAACCAGGGCT	0.562																																						ENST00000217026.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(1891-1893)ctC>ctG		v-myb avian myeloblastosis viral oncogene homolog-like 2							173.0	179.0	177.0					20																	42343842		2203	4300	6503	SO:0001819	synonymous_variant	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42343842C>G		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1893C>G	20.37:g.42343842C>G						MYBL2_ENST00000396863.4_Silent_p.L607L	p.L631L	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		13	2020	+		Myeloproliferative disorder(115;0.00452)	631					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Silent	SNP	ENST00000217026.4	37	c.1893C>G	CCDS13322.1																																																																																				0.562	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		58	156	0	0	0	1	0	58	156				
DNAJB7	150353	broad.mit.edu	37	22	41257470	41257470	+	Missense_Mutation	SNP	C	C	G	rs145804206		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr22:41257470C>G	ENST00000307221.4	-	1	660	c.529G>C	c.(529-531)Gat>Cat	p.D177H	XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000357137.4_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	177							chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						CCACTATTATCAAAAGCCAGG	0.333													C|||	1	0.000199681	0.0	0.0	5008	,	,		19265	0.001		0.0	False		,,,				2504	0.0					ENST00000307221.4																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(529-531)Gat>Cat		DnaJ (Hsp40) homolog, subfamily B, member 7							87.0	89.0	88.0					22																	41257470		2203	4300	6503	SO:0001583	missense	150353				protein folding		heat shock protein binding|unfolded protein binding	g.chr22:41257470C>G	AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"""Heat shock proteins / DNAJ (HSP40)"""	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.529G>C	22.37:g.41257470C>G	ENSP00000307197:p.Asp177His					XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_Intron	p.D177H	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN			1	660	-			177					Q2M220|Q5H904|Q8WYJ7	Missense_Mutation	SNP	ENST00000307221.4	37	c.529G>C	CCDS14008.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.52	1.373771	0.24857	.	.	ENSG00000172404	ENST00000307221	T	0.72725	-0.68	4.7	4.7	0.59300	.	0.429855	0.18524	N	0.138672	T	0.74512	0.3726	M	0.67953	2.075	0.80722	D	1	P	0.41366	0.747	P	0.45913	0.497	T	0.73978	-0.3812	10	0.40728	T	0.16	.	15.946	0.79792	0.0:1.0:0.0:0.0	.	177	Q7Z6W7	DNJB7_HUMAN	H	177	ENSP00000307197:D177H	ENSP00000307197:D177H	D	-	1	0	DNAJB7	39587416	0.061000	0.20836	0.570000	0.28473	0.072000	0.16883	1.785000	0.38684	2.894000	0.99253	0.591000	0.81541	GAT		0.333	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	NM_145174		12	36	0	0	0	1	0	12	36				
POM121	9883	broad.mit.edu	37	7	72413639	72413639	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:72413639C>G	ENST00000434423.2	+	11	3107	c.3107C>G	c.(3106-3108)tCg>tGg	p.S1036W	POM121_ENST00000446813.1_Missense_Mutation_p.S771W|POM121_ENST00000358357.3_Missense_Mutation_p.S771W|POM121_ENST00000395270.1_Missense_Mutation_p.S771W|POM121_ENST00000257622.4_Missense_Mutation_p.S771W			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1036	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCCACGCACTCGGCGTTTGGG	0.652																																						ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2311-2313)tCg>tGg		POM121 transmembrane nucleoporin																																				SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413639C>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3107C>G	7.37:g.72413639C>G	ENSP00000405562:p.Ser1036Trp					POM121_ENST00000358357.3_Missense_Mutation_p.S771W|POM121_ENST00000434423.2_Missense_Mutation_p.S1036W|POM121_ENST00000257622.4_Missense_Mutation_p.S771W|POM121_ENST00000446813.1_Missense_Mutation_p.S771W	p.S771W	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			14	3353	+		Lung NSC(55;0.163)	1036			Pore side (Potential).|Thr-rich.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.2312C>G		.	.	.	.	.	.	.	.	.	.	C	12.10	1.837614	0.32513	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.08984	3.03;3.07;3.03;3.07;3.29	1.99	1.09	0.20402	.	1.017110	0.07912	N	0.974425	T	0.25269	0.0614	M	0.73962	2.25	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.75020	0.965;0.985	T	0.09707	-1.0662	10	0.72032	D	0.01	.	6.5317	0.22330	0.0:0.8457:0.0:0.1543	.	771;1036	A8MXF9;Q96HA1	.;P121A_HUMAN	W	771;771;771;771;1036	ENSP00000393020:S771W;ENSP00000257622:S771W;ENSP00000378687:S771W;ENSP00000351124:S771W;ENSP00000405562:S1036W	ENSP00000257622:S771W	S	+	2	0	POM121	72051575	0.003000	0.15002	0.000000	0.03702	0.026000	0.11368	0.587000	0.23909	0.402000	0.25451	0.173000	0.16961	TCG		0.652	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			21	62	0	0	0	1	0	21	62				
NELL1	4745	broad.mit.edu	37	11	21592355	21592355	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:21592355C>G	ENST00000357134.5	+	18	2178	c.2026C>G	c.(2026-2028)Cca>Gca	p.P676A	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Missense_Mutation_p.P619A|NELL1_ENST00000532434.1_Missense_Mutation_p.P629A|NELL1_ENST00000298925.5_Missense_Mutation_p.P704A	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	676					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TTGCCAGAATCCAAGTGCTGA	0.433																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(2110-2112)Cca>Gca		NEL-like 1 (chicken)							156.0	140.0	145.0					11																	21592355		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21592355C>G	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2026C>G	11.37:g.21592355C>G	ENSP00000349654:p.Pro676Ala					NELL1_ENST00000325319.5_Missense_Mutation_p.P619A|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000357134.5_Missense_Mutation_p.P676A|NELL1_ENST00000532434.1_Missense_Mutation_p.P629A	p.P704A			Q92832	NELL1_HUMAN			19	2263	+			676			VWFC 4.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.2110C>G	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312310	0.81358	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	D;D;T;T	0.81579	-1.51;-1.51;-1.4;-0.09	6.16	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.90508	0.7026	M	0.89287	3.02	0.58432	D	0.999998	P;P;P;D;P	0.89917	0.944;0.908;0.908;1.0;0.841	P;B;B;D;B	0.75020	0.475;0.368;0.444;0.985;0.283	D	0.90451	0.4439	10	0.33141	T	0.24	-10.9012	15.6102	0.76710	0.0:0.9346:0.0:0.0654	.	619;704;221;629;676	F5H6I3;B3KXR2;Q8N9Z6;Q92832-2;Q92832	.;.;.;.;NELL1_HUMAN	A	704;676;619;629	ENSP00000298925:P704A;ENSP00000349654:P676A;ENSP00000317837:P619A;ENSP00000437170:P629A	ENSP00000298925:P704A	P	+	1	0	NELL1	21548931	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	5.690000	0.68241	1.628000	0.50416	-0.145000	0.13849	CCA		0.433	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		15	43	0	0	0	1	0	15	43				
DSCAM	1826	broad.mit.edu	37	21	41725483	41725483	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr21:41725483C>G	ENST00000400454.1	-	5	1320	c.843G>C	c.(841-843)gaG>gaC	p.E281D		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	281	Ig-like C2-type 3.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGCGAATGTTCTCAATGAGCA	0.557																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(841-843)gaG>gaC		Down syndrome cell adhesion molecule							75.0	73.0	73.0					21																	41725483		1960	4149	6109	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41725483C>G	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.843G>C	21.37:g.41725483C>G	ENSP00000383303:p.Glu281Asp						p.E281D	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			5	1320	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	281			Ig-like C2-type 3.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.843G>C	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826677	0.71143	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.66995	-0.24;-0.24	5.32	5.32	0.75619	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.61677	0.2366	N	0.03930	-0.32	0.45762	D	0.99865	D	0.67145	0.996	D	0.76071	0.987	T	0.65833	-0.6072	10	0.32370	T	0.25	.	13.6407	0.62249	0.0:0.9251:0.0:0.0749	.	281	O60469	DSCAM_HUMAN	D	281;33	ENSP00000383303:E281D;ENSP00000385342:E33D	ENSP00000383303:E281D	E	-	3	2	DSCAM	40647353	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.707000	0.54838	2.634000	0.89283	0.655000	0.94253	GAG		0.557	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		14	52	0	0	0	1	0	14	52				
TARS2	80222	broad.mit.edu	37	1	150463905	150463905	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:150463905G>A	ENST00000369064.3	+	5	582	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	TARS2_ENST00000606933.1_Missense_Mutation_p.R183Q|TARS2_ENST00000438568.2_Silent_p.A141A|TARS2_ENST00000369054.2_Missense_Mutation_p.R183Q	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	183					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GTTTTGGAGCGGATTTGCCAG	0.562																																						ENST00000369064.3																			0				cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(547-549)cGg>cAg		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)						102.0	96.0	98.0					1																	150463905		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150463905G>A	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.548G>A	1.37:g.150463905G>A	ENSP00000358060:p.Arg183Gln					TARS2_ENST00000369054.2_Missense_Mutation_p.R183Q|TARS2_ENST00000438568.2_Silent_p.A141A|TARS2_ENST00000606933.1_Missense_Mutation_p.R183Q	p.R183Q	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		5	582	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		183					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.548G>A	CCDS952.1	.	.	.	.	.	.	.	.	.	.	G	6.917	0.538858	0.13250	.	.	ENSG00000143374	ENST00000369054;ENST00000369064	T;T	0.05996	3.36;3.36	5.22	-4.67	0.03319	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.929036	0.09201	N	0.834632	T	0.00815	0.0027	N	0.02225	-0.63	0.25206	N	0.990017	B;B	0.12630	0.001;0.006	B;B	0.04013	0.001;0.001	T	0.45804	-0.9236	10	0.33940	T	0.23	-2.3368	12.8967	0.58104	0.7092:0.0:0.2908:0.0	.	183;183	Q9H9V2;Q9BW92	.;SYTM_HUMAN	Q	183	ENSP00000358050:R183Q;ENSP00000358060:R183Q	ENSP00000358050:R183Q	R	+	2	0	TARS2	148730529	0.000000	0.05858	0.002000	0.10522	0.540000	0.34992	-0.306000	0.08178	-0.829000	0.04268	-1.010000	0.02471	CGG		0.562	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		16	59	0	0	0	1	0	16	59				
RFWD3	55159	broad.mit.edu	37	16	74678518	74678518	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:74678518G>A	ENST00000361070.4	-	5	1005	c.908C>T	c.(907-909)tCa>tTa	p.S303L	RFWD3_ENST00000571750.1_Missense_Mutation_p.S303L	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	303					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GCGTAATGCTGAGAGCCGGTG	0.502																																						ENST00000361070.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						c.(907-909)tCa>tTa		ring finger and WD repeat domain 3							108.0	99.0	102.0					16																	74678518		2198	4300	6498	SO:0001583	missense	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74678518G>A	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.908C>T	16.37:g.74678518G>A	ENSP00000354361:p.Ser303Leu					RFWD3_ENST00000571750.1_Missense_Mutation_p.S303L	p.S303L	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN			5	1005	-			303					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	c.908C>T	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890291	0.91889	.	.	ENSG00000168411	ENST00000361070	T	0.39229	1.09	5.93	5.93	0.95920	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.069024	0.64402	D	0.000013	T	0.39064	0.1064	N	0.12920	0.275	0.58432	D	0.999996	P	0.41673	0.759	P	0.47299	0.543	T	0.10451	-1.0629	10	0.31617	T	0.26	-12.6224	20.328	0.98708	0.0:0.0:1.0:0.0	.	303	Q6PCD5	RFWD3_HUMAN	L	303	ENSP00000354361:S303L	ENSP00000354361:S303L	S	-	2	0	RFWD3	73236019	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.161000	0.77505	2.802000	0.96397	0.561000	0.74099	TCA		0.502	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		7	37	0	0	0	1	0	7	37				
LAMB1	3912	broad.mit.edu	37	7	107626633	107626633	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:107626633G>C	ENST00000222399.6	-	6	829	c.599C>G	c.(598-600)tCa>tGa	p.S200*	LAMB1_ENST00000393560.1_Nonsense_Mutation_p.S200*|LAMB1_ENST00000393561.1_Nonsense_Mutation_p.S224*	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	200	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TCCTTCAGTTGAGGGTTCAAT	0.383																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(670-672)tCa>tGa		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						116.0	114.0	114.0					7																	107626633		2203	4300	6503	SO:0001587	stop_gained	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107626633G>C	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.599C>G	7.37:g.107626633G>C	ENSP00000222399:p.Ser200*					LAMB1_ENST00000222399.6_Nonsense_Mutation_p.S200*|LAMB1_ENST00000393560.1_Nonsense_Mutation_p.S200*	p.S224*			P07942	LAMB1_HUMAN			4	855	-			200			Laminin N-terminal.		Q14D91	Nonsense_Mutation	SNP	ENST00000222399.6	37	c.671C>G	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	40	8.064341	0.98635	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.172	0.98160	0.0:0.0:1.0:0.0	.	.	.	.	X	224;200;200	.	ENSP00000222399:S200X	S	-	2	0	LAMB1	107413869	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	9.869000	0.99810	2.766000	0.95052	0.650000	0.86243	TCA		0.383	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		11	32	0	0	0	1	0	11	32				
DNAH7	56171	broad.mit.edu	37	2	196837116	196837116	+	Silent	SNP	G	G	A	rs371183223	byFrequency	TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:196837116G>A	ENST00000312428.6	-	16	2008	c.1908C>T	c.(1906-1908)ctC>ctT	p.L636L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	636	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGAGGAAGGCGAGGCAGTTTT	0.398													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18600	0.0		0.0	False		,,,				2504	0.0					ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(1906-1908)ctC>ctT		dynein, axonemal, heavy chain 7		G		3,3731		0,3,1864	181.0	164.0	170.0		1908	-9.5	0.1	2		170	0,8228		0,0,4114	no	coding-synonymous	DNAH7	NM_018897.2		0,3,5978	AA,AG,GG		0.0,0.0803,0.0251		636/4025	196837116	3,11959	1867	4114	5981	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196837116G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.1908C>T	2.37:g.196837116G>A							p.L636L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			16	2008	-			636			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.1908C>T	CCDS42794.1																																																																																				0.398	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		11	40	0	0	0	1	0	11	40				
PRX	57716	broad.mit.edu	37	19	40900809	40900809	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:40900809G>A	ENST00000324001.7	-	7	3720	c.3450C>T	c.(3448-3450)atC>atT	p.I1150I	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1150	Glu-rich (acidic).				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGGCAGGGAGATGCCCAGCG	0.652																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(3448-3450)atC>atT		periaxin							54.0	47.0	49.0					19																	40900809		2203	4300	6503	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40900809G>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.3450C>T	19.37:g.40900809G>A						PRX_ENST00000291825.7_3'UTR	p.I1150I	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	3720	-			1150			Glu-rich (acidic).		Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.3450C>T	CCDS33028.1																																																																																				0.652	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		26	56	0	0	0	1	0	26	56				
CBLN2	147381	broad.mit.edu	37	18	70209304	70209304	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr18:70209304C>T	ENST00000269503.4	-	3	865	c.92G>A	c.(91-93)tGc>tAc	p.C31Y	CBLN2_ENST00000585159.1_Missense_Mutation_p.C31Y|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000583651.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	31					positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CACCCCCAGGCAGGATCCGCA	0.766																																						ENST00000269503.4																			0				endometrium(2)|lung(15)	17						c.(91-93)tGc>tAc		cerebellin 2 precursor							8.0	10.0	10.0					18																	70209304		2158	4219	6377	SO:0001583	missense	147381					integral to membrane		g.chr18:70209304C>T	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.92G>A	18.37:g.70209304C>T	ENSP00000269503:p.Cys31Tyr					CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000585159.1_Missense_Mutation_p.C31Y|CBLN2_ENST00000583651.1_Intron	p.C31Y	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN			3	865	-		Esophageal squamous(42;0.131)	31					Q53Z56	Missense_Mutation	SNP	ENST00000269503.4	37	c.92G>A	CCDS11999.1	.	.	.	.	.	.	.	.	.	.	C	1.037	-0.680178	0.03353	.	.	ENSG00000141668	ENST00000269503	D	0.81579	-1.51	3.81	1.81	0.25067	.	1.192080	0.05883	N	0.626748	T	0.63295	0.2499	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.54549	-0.8277	10	0.42905	T	0.14	-0.0861	6.1628	0.20373	0.1818:0.7165:0.0:0.1018	.	31	Q8IUK8	CBLN2_HUMAN	Y	31	ENSP00000269503:C31Y	ENSP00000269503:C31Y	C	-	2	0	CBLN2	68360284	0.018000	0.18449	0.785000	0.31869	0.798000	0.45092	1.909000	0.39917	0.728000	0.32382	-0.448000	0.05591	TGC		0.766	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511		6	20	0	0	0	1	0	6	20				
TLN2	83660	broad.mit.edu	37	15	63073370	63073370	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:63073370G>C	ENST00000561311.1	+	43	5776	c.5546G>C	c.(5545-5547)gGa>gCa	p.G1849A	TLN2_ENST00000306829.6_Missense_Mutation_p.G1849A|TLN2_ENST00000472902.1_Missense_Mutation_p.G242A			Q9Y4G6	TLN2_HUMAN	talin 2	1849					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GAACCAAAGGGAACATTTGTC	0.478																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(5545-5547)gGa>gCa		talin 2							77.0	74.0	75.0					15																	63073370		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63073370G>C	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5546G>C	15.37:g.63073370G>C	ENSP00000453508:p.Gly1849Ala					TLN2_ENST00000472902.1_Missense_Mutation_p.G242A|TLN2_ENST00000306829.6_Missense_Mutation_p.G1849A	p.G1849A			Q9Y4G6	TLN2_HUMAN			43	5776	+			1849					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.5546G>C	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501881	0.64298	.	.	ENSG00000171914	ENST00000306829	T	0.14640	2.49	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.22044	0.0531	M	0.83953	2.67	0.58432	D	0.999998	B;B	0.29037	0.231;0.199	B;B	0.29176	0.09;0.099	T	0.03394	-1.1041	10	0.20046	T	0.44	-18.9141	16.124	0.81380	0.0:0.1335:0.8665:0.0	.	893;1849	G1UI21;Q9Y4G6	.;TLN2_HUMAN	A	1849	ENSP00000303476:G1849A	ENSP00000303476:G1849A	G	+	2	0	TLN2	60860423	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.925000	0.87563	2.671000	0.90904	0.655000	0.94253	GGA		0.478	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			8	29	0	0	0	1	0	8	29				
MROH2B	133558	broad.mit.edu	37	5	41000406	41000406	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:41000406C>A	ENST00000399564.4	-	39	4848	c.4398G>T	c.(4396-4398)caG>caT	p.Q1466H	MROH2B_ENST00000506092.2_Missense_Mutation_p.Q1021H	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1466																	CATAGAGCTCCTGGAGGCCCA	0.488																																						ENST00000399564.4																			0											c.(4396-4398)caG>caT		maestro heat-like repeat family member 2B							62.0	60.0	61.0					5																	41000406		1880	4108	5988	SO:0001583	missense	133558							g.chr5:41000406C>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4398G>T	5.37:g.41000406C>A	ENSP00000382476:p.Gln1466His					MROH2B_ENST00000506092.2_Missense_Mutation_p.Q1021H	p.Q1466H	NM_173489.4	NP_775760.3					39	4848	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.4398G>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964498	0.53507	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.66280	-0.2;-0.2	5.99	-0.586	0.11694	Armadillo-like helical (1);Armadillo-type fold (1);	0.105627	0.42548	D	0.000691	T	0.63593	0.2524	L	0.51422	1.61	0.29794	N	0.832958	D	0.71674	0.998	D	0.69479	0.964	T	0.58618	-0.7605	10	0.59425	D	0.04	.	2.0087	0.03483	0.1296:0.4191:0.127:0.3242	.	1466	Q7Z745	HTRB2_HUMAN	H	1021;1171;1466	ENSP00000441504:Q1021H;ENSP00000382476:Q1466H	ENSP00000296803:Q1171H	Q	-	3	2	HEATR7B2	41036163	0.992000	0.36948	0.984000	0.44739	0.532000	0.34746	-0.058000	0.11750	-0.056000	0.13221	0.655000	0.94253	CAG		0.488	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		10	17	1	0	7.48243e-07	1	8.03815e-07	10	17				
KIAA2026	158358	broad.mit.edu	37	9	5924783	5924783	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:5924783C>T	ENST00000399933.3	-	7	2560	c.2561G>A	c.(2560-2562)aGa>aAa	p.R854K	KIAA2026_ENST00000381461.2_Missense_Mutation_p.R824K	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	854										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CCATAGTTCTCTATTAAATGT	0.373																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(2560-2562)aGa>aAa		KIAA2026							102.0	103.0	102.0					9																	5924783		1833	4087	5920	SO:0001583	missense	158358							g.chr9:5924783C>T	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.2561G>A	9.37:g.5924783C>T	ENSP00000382815:p.Arg854Lys					KIAA2026_ENST00000381461.2_Missense_Mutation_p.R824K	p.R854K	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	7	2560	-		Acute lymphoblastic leukemia(23;0.158)	854					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.2561G>A		.	.	.	.	.	.	.	.	.	.	C	24.8	4.569161	0.86439	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.55	4.65	0.58169	.	0.000000	0.64402	D	0.000015	T	0.28067	0.0692	L	0.29908	0.895	0.27395	N	0.955019	P	0.49559	0.925	B	0.41271	0.352	T	0.20773	-1.0265	9	0.51188	T	0.08	-6.9373	13.8099	0.63256	0.0:0.9264:0.0:0.0736	.	854	Q5HYC2	K2026_HUMAN	K	854;824	.	ENSP00000370870:R824K	R	-	2	0	KIAA2026	5914783	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.817000	0.55668	2.597000	0.87782	0.484000	0.47621	AGA		0.373	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		6	26	0	0	0	1	0	6	26				
PGK1	5230	broad.mit.edu	37	X	77378330	77378330	+	Splice_Site	SNP	A	A	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:77378330A>C	ENST00000373316.4	+	7	808		c.e7-1		PGK1_ENST00000537456.1_Splice_Site|PGK1_ENST00000442431.1_Splice_Site	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1						carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	TTTCTCTTGTAGAGCTAAAGT	0.378																																						ENST00000373316.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						c.e7-1		phosphoglycerate kinase 1							100.0	84.0	89.0					X																	77378330		2203	4300	6503	SO:0001630	splice_region_variant	5230				gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chrX:77378330A>C	L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.642-1A>C	X.37:g.77378330A>C						PGK1_ENST00000442431.1_Splice_Site|PGK1_ENST00000537456.1_Splice_Site		NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN			7	808	+								A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Splice_Site	SNP	ENST00000373316.4	37		CCDS14438.1	.	.	.	.	.	.	.	.	.	.	A	9.363	1.068467	0.20067	.	.	ENSG00000102144	ENST00000373316;ENST00000442431;ENST00000450919;ENST00000537456	.	.	.	5.34	2.91	0.33838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4112	0.16349	0.7333:0.1757:0.091:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PGK1	77264986	1.000000	0.71417	0.810000	0.32431	0.661000	0.39034	9.233000	0.95337	0.746000	0.32786	0.486000	0.48141	.		0.378	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1		Intron	14	23	0	0	0	1	0	14	23				
DNTTIP2	30836	broad.mit.edu	37	1	94343367	94343367	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:94343367C>G	ENST00000436063.2	-	2	181	c.124G>C	c.(124-126)Gat>Cat	p.D42H	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	42					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		GTTCGGGCATCAGATCCAGTA	0.453																																						ENST00000436063.2																			0				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38						c.(124-126)Gat>Cat		deoxynucleotidyltransferase, terminal, interacting protein 2							59.0	55.0	56.0					1																	94343367		1884	4117	6001	SO:0001583	missense	30836				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:94343367C>G	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.124G>C	1.37:g.94343367C>G	ENSP00000411010:p.Asp42His					DNTTIP2_ENST00000460191.1_5'UTR	p.D42H	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)	2	181	-		all_lung(203;0.0111)|Lung NSC(277;0.0347)	42					Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	ENST00000436063.2	37	c.124G>C	CCDS44174.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527124	0.44969	.	.	ENSG00000067334	ENST00000436063;ENST00000528680	T	0.26810	1.71	4.93	-0.263	0.12954	.	3.379890	0.00870	N	0.002010	T	0.06234	0.0161	L	0.27053	0.805	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.25398	-1.0133	10	0.39692	T	0.17	.	4.9849	0.14185	0.0:0.4331:0.1472:0.4197	.	42	Q5QJE6	TDIF2_HUMAN	H	42;49	ENSP00000411010:D42H	ENSP00000352137:D42H	D	-	1	0	DNTTIP2	94115955	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.028000	0.12350	-0.109000	0.12044	-0.151000	0.13558	GAT		0.453	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		7	11	0	0	0	1	0	7	11				
PIK3AP1	118788	broad.mit.edu	37	10	98392664	98392664	+	Intron	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:98392664C>T	ENST00000339364.5	-	9	1495				PIK3AP1_ENST00000371109.3_Silent_p.K51K|PIK3AP1_ENST00000468783.1_Intron|PIK3AP1_ENST00000371110.2_Intron	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1						negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ctgggacatgcttggcaccag	0.478																																						ENST00000371109.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52						c.(151-153)aaG>aaA		phosphoinositide-3-kinase adaptor protein 1							132.0	121.0	124.0					10																	98392664		876	1991	2867	SO:0001627	intron_variant	118788					cytoplasm|plasma membrane		g.chr10:98392664C>T	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1376-4414G>A	10.37:g.98392664C>T						PIK3AP1_ENST00000339364.5_Intron|PIK3AP1_ENST00000371110.2_Intron|PIK3AP1_ENST00000468783.1_Intron	p.K51K			Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	1	334	-		Colorectal(252;0.0442)	449					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Silent	SNP	ENST00000339364.5	37	c.153G>A	CCDS31259.1																																																																																				0.478	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		10	28	0	0	0	1	0	10	28				
TBCE	6905	broad.mit.edu	37	1	235599721	235599721	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:235599721C>G	ENST00000366601.3	+	10	1030	c.854C>G	c.(853-855)tCt>tGt	p.S285C	TBCE_ENST00000543662.1_Missense_Mutation_p.S336C|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Missense_Mutation_p.S285C			Q15813	TBCE_HUMAN	tubulin folding cofactor E	285					'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			TTAATCCTCTCTGACACTGGA	0.373																																						ENST00000543662.1																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14						c.(1006-1008)tCt>tGt		tubulin folding cofactor E							112.0	114.0	113.0					1																	235599721		2203	4299	6502	SO:0001583	missense	6905				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding	g.chr1:235599721C>G	U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"""tubulin-specific chaperone e"", ""Kenny-Caffey syndrome"", ""hypoparathyroidism, growth and mental retardation, and dysmorphism"""	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.854C>G	1.37:g.235599721C>G	ENSP00000355560:p.Ser285Cys					TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Missense_Mutation_p.S285C|TBCE_ENST00000366601.3_Missense_Mutation_p.S285C	p.S336C			Q15813	TBCE_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)		11	1113	+	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	285					A8K8C2|B7Z3P1	Missense_Mutation	SNP	ENST00000366601.3	37	c.1007C>G	CCDS1605.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017884	0.35606	.	.	ENSG00000116957	ENST00000366601;ENST00000406207;ENST00000543662	T;T;T	0.39056	1.1;1.1;1.1	5.12	4.2	0.49525	.	0.216524	0.49916	D	0.000128	T	0.61949	0.2388	M	0.83118	2.625	0.30125	N	0.805306	D;D;D	0.71674	0.996;0.998;0.981	P;P;P	0.58873	0.784;0.847;0.76	T	0.66716	-0.5853	10	0.51188	T	0.08	-6.7733	13.9429	0.64066	0.0:0.6812:0.3188:0.0	.	336;285;285	B7Z3P1;A8K8C2;Q15813	.;.;TBCE_HUMAN	C	285;285;336	ENSP00000355560:S285C;ENSP00000384571:S285C;ENSP00000439170:S336C	ENSP00000355560:S285C	S	+	2	0	TBCE	233666344	1.000000	0.71417	0.285000	0.24819	0.162000	0.22319	2.882000	0.48546	1.133000	0.42147	0.467000	0.42956	TCT		0.373	TBCE-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096458.3	NM_003193		6	19	0	0	0	1	0	6	19				
SBDS	51119	broad.mit.edu	37	7	66459213	66459213	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:66459213C>G	ENST00000246868.2	-	2	427	c.244G>C	c.(244-246)Gaa>Caa	p.E82Q	TYW1_ENST00000359626.5_5'Flank	NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	82					bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						TTACAGATTTCAGTTTGGTCA	0.383			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome																													ENST00000246868.2			yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Gene Conversion	Shwachman-Bodian-Diamond syndrome protein			L		"""AML, MDS"""			0				cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(244-246)Gaa>Caa		Shwachman-Bodian-Diamond syndrome							149.0	130.0	136.0					7																	66459213		2203	4300	6503	SO:0001583	missense	51119	Shwachman-Diamond syndrome	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding	g.chr7:66459213C>G	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.244G>C	7.37:g.66459213C>G	ENSP00000246868:p.Glu82Gln						p.E82Q	NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN			2	427	-			82					A8K0P4|Q96FX0|Q9NV53	Missense_Mutation	SNP	ENST00000246868.2	37	c.244G>C	CCDS5537.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.720383	0.68959	.	.	ENSG00000126524	ENST00000246868	D	0.96587	-4.06	4.95	4.95	0.65309	Ribosome maturation protein SBDS, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.97742	0.9259	M	0.82823	2.61	0.80722	D	1	P	0.49358	0.923	P	0.60415	0.874	D	0.97654	1.0156	10	0.48119	T	0.1	-14.4676	15.7109	0.77626	0.0:1.0:0.0:0.0	.	82	Q9Y3A5	SBDS_HUMAN	Q	82	ENSP00000246868:E82Q	ENSP00000246868:E82Q	E	-	1	0	SBDS	66096648	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.761000	0.74945	2.587000	0.87381	0.561000	0.74099	GAA		0.383	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251746.2	NM_016038		12	39	0	0	0	1	0	12	39				
KIF5C	3800	broad.mit.edu	37	2	149818561	149818561	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:149818561G>C	ENST00000435030.1	+	11	1413	c.1045G>C	c.(1045-1047)Gag>Cag	p.E349Q	KIF5C_ENST00000397413.1_Missense_Mutation_p.E117Q|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.E254Q			O60282	KIF5C_HUMAN	kinesin family member 5C	349					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		ATATGAAAAAGAGAAAGAGAA	0.398																																						ENST00000435030.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1045-1047)Gag>Cag		kinesin family member 5C							79.0	74.0	76.0					2																	149818561		1870	4102	5972	SO:0001583	missense	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149818561G>C	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1045G>C	2.37:g.149818561G>C	ENSP00000393379:p.Glu349Gln					KIF5C_ENST00000414838.2_Missense_Mutation_p.E254Q|KIF5C_ENST00000397413.1_Missense_Mutation_p.E117Q|KIF5C_ENST00000464066.1_3'UTR	p.E349Q			O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	11	1413	+			349			Kinesin-motor.		O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37	c.1045G>C		.	.	.	.	.	.	.	.	.	.	G	23.2	4.386057	0.82902	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000450621;ENST00000397413	T;T;T;T	0.75154	-0.63;-0.63;-0.91;-0.63	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	D	0.84023	0.5381	.	.	.	0.58432	D	0.999991	D	0.69078	0.997	P	0.59424	0.857	D	0.86455	0.1775	9	0.66056	D	0.02	.	17.6702	0.88214	0.0:0.0:1.0:0.0	.	349	O60282	KIF5C_HUMAN	Q	349;254;252;66;117	ENSP00000393379:E349Q;ENSP00000410115:E254Q;ENSP00000393270:E66Q;ENSP00000380560:E117Q	ENSP00000334176:E252Q	E	+	1	0	KIF5C	149526807	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.726000	0.84824	2.389000	0.81357	0.539000	0.68188	GAG		0.398	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		4	16	0	0	0	1	0	4	16				
VPS13C	54832	broad.mit.edu	37	15	62207862	62207862	+	Missense_Mutation	SNP	G	G	C	rs572597703		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:62207862G>C	ENST00000261517.5	-	61	8488	c.8415C>G	c.(8413-8415)ttC>ttG	p.F2805L	VPS13C_ENST00000395898.3_Missense_Mutation_p.F2762L|VPS13C_ENST00000395896.4_Missense_Mutation_p.F2805L|RN7SL613P_ENST00000584412.1_RNA|VPS13C_ENST00000249837.3_Missense_Mutation_p.F2762L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCTTCTTCTTGAAAGAAAATA	0.323																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(8413-8415)ttC>ttG		vacuolar protein sorting 13 homolog C (S. cerevisiae)							29.0	31.0	30.0					15																	62207862		2202	4300	6502	SO:0001583	missense	54832				protein localization			g.chr15:62207862G>C	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.8415C>G	15.37:g.62207862G>C	ENSP00000261517:p.Phe2805Leu					VPS13C_ENST00000249837.3_Missense_Mutation_p.F2762L|VPS13C_ENST00000395896.4_Missense_Mutation_p.F2805L|VPS13C_ENST00000395898.3_Missense_Mutation_p.F2762L	p.F2805L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			61	8488	-			2805						Missense_Mutation	SNP	ENST00000261517.5	37	c.8415C>G	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603162	0.66445	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.39229	1.09;1.09;1.09	5.52	2.64	0.31445	Vacuolar protein sorting-associated protein (1);	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	M	0.86651	2.83	0.80722	D	1	D;D;D;D;D	0.69078	0.994;0.994;0.997;0.997;0.988	D;D;D;D;D	0.69824	0.966;0.966;0.966;0.966;0.966	T	0.69647	-0.5089	10	0.87932	D	0	.	12.9658	0.58483	0.2512:0.0:0.7488:0.0	.	2805;2762;2805;2762;2805	F5GZG8;Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;.;VP13C_HUMAN	L	2762;2805;2805;2805	ENSP00000249837:F2762L;ENSP00000261517:F2805L;ENSP00000379233:F2805L	ENSP00000249837:F2762L	F	-	3	2	VPS13C	59995154	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	2.444000	0.44890	0.048000	0.15891	-0.813000	0.03139	TTC		0.323	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		4	14	0	0	0	1	0	4	14				
LGSN	51557	broad.mit.edu	37	6	63990433	63990433	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:63990433C>T	ENST00000370657.4	-	4	1056	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	LGSN_ENST00000370658.5_Missense_Mutation_p.G201E			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	341					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)	p.G341G(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACCATTTTTTCCCAGTGATCG	0.488																																						ENST00000370658.5																			1	Substitution - coding silent(1)	p.G341G(1)	lung(1)	NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(601-603)gGa>gAa		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						94.0	96.0	96.0					6																	63990433		2202	4299	6501	SO:0001819	synonymous_variant	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990433C>T	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1023G>A	6.37:g.63990433C>T						LGSN_ENST00000370657.4_Silent_p.G341G	p.G201E	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN			5	635	-			0					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.602G>A	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.664516	0.29604	.	.	ENSG00000146166	ENST00000370658	T	0.27557	1.66	5.77	4.89	0.63831	.	0.043107	0.85682	N	0.000000	T	0.08891	0.0220	.	.	.	0.29592	N	0.848329	P	0.37207	0.587	B	0.34180	0.177	T	0.10590	-1.0623	9	0.33940	T	0.23	-18.7392	8.0019	0.30301	0.0:0.6062:0.3102:0.0836	.	201	Q5TDP6-2	.	E	201	ENSP00000359692:G201E	ENSP00000359692:G201E	G	-	2	0	LGSN	64048392	0.994000	0.37717	0.444000	0.26895	0.004000	0.04260	0.686000	0.25392	1.427000	0.47276	-0.175000	0.13238	GGA		0.488	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		13	53	0	0	0	1	0	13	53				
FTMT	94033	broad.mit.edu	37	5	121187842	121187842	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:121187842G>A	ENST00000321339.1	+	1	193	c.184G>A	c.(184-186)Gcc>Acc	p.A62T		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	62					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TACCGGGCCCGCCGCCGGCCC	0.736																																						ENST00000321339.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(184-186)Gcc>Acc		ferritin mitochondrial							15.0	17.0	17.0					5																	121187842		2199	4299	6498	SO:0001583	missense	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187842G>A	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.184G>A	5.37:g.121187842G>A	ENSP00000313691:p.Ala62Thr						p.A62T	NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	193	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	62						Missense_Mutation	SNP	ENST00000321339.1	37	c.184G>A	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.939111	0.00484	.	.	ENSG00000181867	ENST00000321339	T	0.64260	-0.09	2.19	-4.39	0.03611	.	2.107230	0.03147	N	0.167519	T	0.38957	0.1060	N	0.17082	0.46	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.48364	-0.9042	10	0.02654	T	1	.	7.4447	0.27205	0.5611:0.2954:0.1435:0.0	.	62	Q8N4E7	FTMT_HUMAN	T	62	ENSP00000313691:A62T	ENSP00000313691:A62T	A	+	1	0	FTMT	121215741	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.662000	0.05305	-2.960000	0.00290	-1.648000	0.00760	GCC		0.736	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		8	19	0	0	0	1	0	8	19				
ZMYM1	79830	broad.mit.edu	37	1	35563106	35563106	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:35563106G>A	ENST00000373330.1	+	5	532	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.E120K			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	120						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATGCATCACTGAATACATTTC	0.398																																						ENST00000373330.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(358-360)Gaa>Aaa		zinc finger, MYM-type 1							127.0	130.0	129.0					1																	35563106		2104	4254	6358	SO:0001583	missense	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35563106G>A	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.358G>A	1.37:g.35563106G>A	ENSP00000362427:p.Glu120Lys					ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.E120K	p.E120K			Q5SVZ6	ZMYM1_HUMAN			5	532	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	120					D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	c.358G>A	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.581055	0.65992	.	.	ENSG00000197056	ENST00000417119;ENST00000359858;ENST00000373329;ENST00000373330	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.2	5.2	0.72013	TRASH (1);Zinc finger, MYM-type (1);	0.131394	0.34828	N	0.003645	T	0.53206	0.1782	L	0.36672	1.1	0.31350	N	0.682685	P;D;P	0.61080	0.723;0.989;0.774	B;P;P	0.62560	0.37;0.904;0.593	T	0.51076	-0.8751	10	0.34782	T	0.22	-9.1304	19.3014	0.94145	0.0:0.0:1.0:0.0	.	120;120;120	B4DSJ9;Q5SVZ6;Q5SVZ7	.;ZMYM1_HUMAN;.	K	120;120;45;120	ENSP00000394233:E120K;ENSP00000352920:E120K;ENSP00000362426:E45K;ENSP00000362427:E120K	ENSP00000352920:E120K	E	+	1	0	ZMYM1	35335693	1.000000	0.71417	0.455000	0.27031	0.988000	0.76386	5.607000	0.67648	2.854000	0.98071	0.655000	0.94253	GAA		0.398	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		12	47	0	0	0	1	0	12	47				
PHLDB1	23187	broad.mit.edu	37	11	118509672	118509672	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:118509672G>A	ENST00000361417.2	+	12	3010	c.2599G>A	c.(2599-2601)Gaa>Aaa	p.E867K	PHLDB1_ENST00000524713.1_5'Flank|AP002954.3_ENST00000530198.1_RNA|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_5'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.E867K	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	867										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GCAGGAATCAGAACGCCTGGC	0.622																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(2599-2601)Gaa>Aaa		pleckstrin homology-like domain, family B, member 1							39.0	37.0	38.0					11																	118509672		2199	4295	6494	SO:0001583	missense	23187							g.chr11:118509672G>A		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2599G>A	11.37:g.118509672G>A	ENSP00000354498:p.Glu867Lys					PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.E867K|PHLDB1_ENST00000527898.1_5'UTR	p.E867K	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	12	3010	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	867					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.2599G>A	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130101	0.77549	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063	T;T	0.50548	0.74;0.74	4.22	4.22	0.49857	.	0.239840	0.40302	N	0.001131	T	0.64260	0.2582	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.71674	0.973;0.998;0.981;0.967	P;D;P;P	0.71184	0.629;0.972;0.781;0.472	T	0.62950	-0.6745	10	0.31617	T	0.26	-15.1029	16.7699	0.85534	0.0:0.0:1.0:0.0	.	611;867;867;867	Q5W9G0;Q86UU1-3;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	K	867;626;231;867	ENSP00000354498:E867K;ENSP00000348359:E867K	ENSP00000348359:E867K	E	+	1	0	PHLDB1	118014882	1.000000	0.71417	0.828000	0.32881	0.670000	0.39368	6.953000	0.75995	2.171000	0.68590	0.563000	0.77884	GAA		0.622	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		7	22	0	0	0	1	0	7	22				
WDR78	79819	broad.mit.edu	37	1	67292604	67292604	+	Silent	SNP	A	A	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:67292604A>T	ENST00000371026.3	-	15	2293	c.2238T>A	c.(2236-2238)gcT>gcA	p.A746A	RP11-342H21.2_ENST00000456389.1_RNA|WDR78_ENST00000431318.1_Silent_p.A459A	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	746					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CAACAGAAGTAGCTGGATAAA	0.398																																						ENST00000371026.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(2236-2238)gcT>gcA		WD repeat domain 78							129.0	130.0	130.0					1																	67292604		2203	4300	6503	SO:0001819	synonymous_variant	79819							g.chr1:67292604A>T	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.2238T>A	1.37:g.67292604A>T						WDR78_ENST00000431318.1_Silent_p.A459A	p.A746A	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN			15	2293	-			746					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Silent	SNP	ENST00000371026.3	37	c.2238T>A	CCDS635.1																																																																																				0.398	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		18	39	0	0	0	1	0	18	39				
SI	6476	broad.mit.edu	37	3	164741468	164741468	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:164741468C>T	ENST00000264382.3	-	26	3051	c.2989G>A	c.(2989-2991)Gct>Act	p.A997T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	997	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TGGAGGTCAGCTGTTATACCC	0.403										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(2989-2991)Gct>Act		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						136.0	129.0	131.0					3																	164741468		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164741468C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2989G>A	3.37:g.164741468C>T	ENSP00000264382:p.Ala997Thr	HNSCC(35;0.089)					p.A997T	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			26	3051	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	997			Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.2989G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908579	0.33721	.	.	ENSG00000090402	ENST00000264382	D	0.86366	-2.11	5.53	4.66	0.58398	Glycoside hydrolase-type carbohydrate-binding (1);	0.214400	0.43579	D	0.000542	D	0.87593	0.6216	M	0.85859	2.78	0.42599	D	0.993276	B	0.18461	0.028	B	0.19666	0.026	D	0.85303	0.1074	10	0.44086	T	0.13	.	11.433	0.50052	0.0:0.8538:0.0:0.1462	.	997	P14410	SUIS_HUMAN	T	997	ENSP00000264382:A997T	ENSP00000264382:A997T	A	-	1	0	SI	166224162	0.996000	0.38824	0.948000	0.38648	0.061000	0.15899	1.560000	0.36331	1.576000	0.49790	0.655000	0.94253	GCT		0.403	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		8	29	0	0	0	1	0	8	29				
OSMR	9180	broad.mit.edu	37	5	38886310	38886310	+	Intron	SNP	A	A	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:38886310A>G	ENST00000274276.3	+	7	1393				OSMR_ENST00000502536.1_Missense_Mutation_p.T337A	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor						cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TAGAGTTGTCACAGCCCACCG	0.423																																						ENST00000502536.1																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46						c.(1009-1011)Aca>Gca		oncostatin M receptor							90.0	85.0	87.0					5																	38886310		2203	4300	6503	SO:0001627	intron_variant	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38886310A>G	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.991+18A>G	5.37:g.38886310A>G						OSMR_ENST00000274276.3_Intron	p.T337A	NM_001168355.1	NP_001161827.1	Q99650	OSMR_HUMAN			7	1291	+	all_lung(31;0.000365)		0			Fibronectin type-III 1.		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.1009A>G	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	A	4.979	0.181812	0.09495	.	.	ENSG00000145623	ENST00000502536	T	0.56776	0.44	4.22	-8.44	0.00950	.	.	.	.	.	T	0.26159	0.0638	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17289	-1.0374	8	0.17369	T	0.5	.	6.7361	0.23411	0.5495:0.2231:0.2274:0.0	.	337	Q99650-2	.	A	337	ENSP00000422023:T337A	ENSP00000422023:T337A	T	+	1	0	OSMR	38922067	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-1.561000	0.02158	-1.682000	0.01446	-0.250000	0.11733	ACA		0.423	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		11	38	0	0	0	1	0	11	38				
MAN2A2	4122	broad.mit.edu	37	15	91461609	91461609	+	Silent	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:91461609C>G	ENST00000559717.1	+	21	3639	c.3180C>G	c.(3178-3180)ctC>ctG	p.L1060L	AC068831.15_ENST00000560522.1_RNA|MAN2A2_ENST00000431652.2_Silent_p.L568L|MAN2A2_ENST00000558538.1_3'UTR|MAN2A2_ENST00000360468.3_Silent_p.L1060L|MAN2A2_ENST00000430376.2_Silent_p.L250L			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1060					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TACGTACGCTCCAGGCTGAGG	0.592																																						ENST00000360468.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(3178-3180)ctC>ctG		mannosidase, alpha, class 2A, member 2							115.0	89.0	98.0					15																	91461609		2198	4298	6496	SO:0001819	synonymous_variant	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91461609C>G	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.3180C>G	15.37:g.91461609C>G						MAN2A2_ENST00000430376.2_Silent_p.L250L|MAN2A2_ENST00000558538.1_3'UTR|MAN2A2_ENST00000559717.1_Silent_p.L1060L|MAN2A2_ENST00000431652.2_Silent_p.L568L	p.L1060L	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	Lung(145;0.229)		20	3198	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		1060					A6NH12|A8K1E8|Q13754	Silent	SNP	ENST00000559717.1	37	c.3180C>G	CCDS32332.1																																																																																				0.592	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		19	43	0	0	0	1	0	19	43				
C1QL1	10882	broad.mit.edu	37	17	43037675	43037675	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:43037675C>T	ENST00000253407.3	-	2	680	c.658G>A	c.(658-660)Gtg>Atg	p.V220M		NM_006688.3	NP_006679.1	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	220	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				locomotory behavior (GO:0007626)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)				lung(1)|prostate(1)	2		Prostate(33;0.155)				TGCAGGATCACGCTGTTGCTG	0.622																																						ENST00000253407.3																			0				lung(1)|prostate(1)	2						c.(658-660)Gtg>Atg		complement component 1, q subcomponent-like 1							193.0	153.0	167.0					17																	43037675		2203	4300	6503	SO:0001583	missense	10882				locomotory behavior	collagen		g.chr17:43037675C>T	AF410771	CCDS11492.1	17q21	2010-08-18			ENSG00000131094	ENSG00000131094			24182	protein-coding gene	gene with protein product		611586				9878755	Standard	NM_006688		Approved	CRF, C1QRF, C1QTNF14	uc002ihv.3	O75973	OTTHUMG00000162944	ENST00000253407.3:c.658G>A	17.37:g.43037675C>T	ENSP00000253407:p.Val220Met						p.V220M	NM_006688.3	NP_006679.1	O75973	C1QRF_HUMAN			2	680	-		Prostate(33;0.155)	220			C1q.			Missense_Mutation	SNP	ENST00000253407.3	37	c.658G>A	CCDS11492.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622013	0.87460	.	.	ENSG00000131094	ENST00000253407	T	0.78707	-1.2	4.7	3.73	0.42828	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.64402	D	0.000001	D	0.86912	0.6047	M	0.81239	2.535	0.58432	D	0.999997	D	0.89917	1.0	D	0.80764	0.994	D	0.87441	0.2395	10	0.54805	T	0.06	.	12.0492	0.53498	0.0:0.914:0.0:0.086	.	220	O75973	C1QRF_HUMAN	M	220	ENSP00000253407:V220M	ENSP00000253407:V220M	V	-	1	0	C1QL1	40393201	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.623000	0.83113	1.201000	0.43203	0.555000	0.69702	GTG		0.622	C1QL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371119.3	NM_006688		22	43	0	0	0	1	0	22	43				
WDR33	55339	broad.mit.edu	37	2	128480908	128480908	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:128480908G>A	ENST00000322313.4	-	12	1368	c.1210C>T	c.(1210-1212)Cga>Tga	p.R404*		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	404					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGTCGGTTTCGAGTCCAGAAT	0.388																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1210-1212)Cga>Tga		WD repeat domain 33							97.0	102.0	101.0					2																	128480908		2203	4300	6503	SO:0001587	stop_gained	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128480908G>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.1210C>T	2.37:g.128480908G>A	ENSP00000325377:p.Arg404*						p.R404*	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	12	1368	-	Colorectal(110;0.1)		404					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Nonsense_Mutation	SNP	ENST00000322313.4	37	c.1210C>T	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	38	6.715230	0.97784	.	.	ENSG00000136709	ENST00000322313	.	.	.	5.38	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.4851	14.4455	0.67347	0.0:0.0:0.7013:0.2987	.	.	.	.	X	404	.	ENSP00000325377:R404X	R	-	1	2	WDR33	128197378	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.746000	0.47467	2.674000	0.91012	0.655000	0.94253	CGA		0.388	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		13	23	0	0	0	1	0	13	23				
UBB	7314	broad.mit.edu	37	17	16285800	16285800	+	Silent	SNP	G	G	A	rs376813261		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:16285800G>A	ENST00000395837.1	+	2	760	c.579G>A	c.(577-579)caG>caA	p.Q193Q	RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Silent_p.Q193Q|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000395839.1_Silent_p.Q193Q|UBB_ENST00000535788.1_Silent_p.Q117Q	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	193	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		CCGACCAGCAGAGGCTCATCT	0.562																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(577-579)caG>caA		ubiquitin B							49.0	54.0	52.0					17																	16285800		2203	4297	6500	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285800G>A		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.579G>A	17.37:g.16285800G>A						RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.Q193Q|UBB_ENST00000395839.1_Silent_p.Q193Q|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000535788.1_Silent_p.Q117Q	p.Q193Q	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	971	+			193			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.579G>A	CCDS11177.1																																																																																				0.562	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		15	47	0	0	0	1	0	15	47				
ATN1	1822	broad.mit.edu	37	12	7046408	7046408	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:7046408G>A	ENST00000356654.4	+	5	2215	c.1978G>A	c.(1978-1980)Ggg>Agg	p.G660R	ATN1_ENST00000396684.2_Missense_Mutation_p.G660R	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	660					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						ATACAAACCCGGGTCGCCTCC	0.697																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1978-1980)Ggg>Agg		atrophin 1							10.0	13.0	12.0					12																	7046408		2164	4221	6385	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7046408G>A	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1978G>A	12.37:g.7046408G>A	ENSP00000349076:p.Gly660Arg					ATN1_ENST00000396684.2_Missense_Mutation_p.G660R	p.G660R	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			5	2215	+			660					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.1978G>A	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	g	8.955	0.969052	0.18659	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.43688	0.94;0.94;0.94	3.52	3.52	0.40303	.	0.000000	0.34531	U	0.003893	T	0.33585	0.0868	L	0.49778	1.585	0.33763	D	0.622147	P	0.40578	0.722	B	0.34038	0.174	T	0.54906	-0.8223	10	0.40728	T	0.16	.	12.9565	0.58430	0.0:0.0:1.0:0.0	.	660	P54259	ATN1_HUMAN	R	660;660;660;245	ENSP00000349076:G660R;ENSP00000379915:G660R;ENSP00000441744:G660R	ENSP00000229279:G245R	G	+	1	0	ATN1	6916669	0.997000	0.39634	0.157000	0.22605	0.002000	0.02628	5.013000	0.64023	1.985000	0.57927	0.586000	0.80456	GGG		0.697	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		9	16	0	0	0	1	0	9	16				
AZIN2	113451	broad.mit.edu	37	1	33549576	33549576	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:33549576G>A	ENST00000294517.6	+	5	714	c.127G>A	c.(127-129)Gtg>Atg	p.V43M	ADC_ENST00000398167.1_Missense_Mutation_p.V43M|ADC_ENST00000373441.1_Missense_Mutation_p.V43M|ADC_ENST00000373443.3_Missense_Mutation_p.V43M|ADC_ENST00000358680.3_Missense_Mutation_p.V43M|ADC_ENST00000373440.1_Missense_Mutation_p.V43M|ADC_ENST00000484656.1_3'UTR	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		43					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	TGCCTTCTTCGTGGCTGACCT	0.547																																						ENST00000294517.6																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11						c.(127-129)Gtg>Atg		arginine decarboxylase	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)						118.0	88.0	98.0					1																	33549576		2203	4300	6503	SO:0001583	missense	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33549576G>A																												ENST00000294517.6:c.127G>A	1.37:g.33549576G>A	ENSP00000294517:p.Val43Met					ADC_ENST00000373443.3_Missense_Mutation_p.V43M|ADC_ENST00000398167.1_Missense_Mutation_p.V43M|ADC_ENST00000358680.3_Missense_Mutation_p.V43M|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373440.1_Missense_Mutation_p.V43M|ADC_ENST00000373441.1_Missense_Mutation_p.V43M	p.V43M	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN			5	714	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	43					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP	ENST00000294517.6	37	c.127G>A	CCDS375.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013936	0.93404	.	.	ENSG00000142920	ENST00000294517;ENST00000341637;ENST00000358680;ENST00000373443;ENST00000398167;ENST00000373440;ENST00000373441	T;T;T;T;T;T	0.58060	0.36;0.46;0.36;0.44;0.46;0.44	4.84	4.84	0.62591	.	0.000000	0.64402	D	0.000005	T	0.72526	0.3471	M	0.69823	2.125	0.58432	D	0.999997	D;D;D;D	0.89917	0.989;1.0;0.998;0.996	P;D;P;P	0.91635	0.809;0.999;0.631;0.6	T	0.76451	-0.2954	10	0.87932	D	0	-12.7207	17.9282	0.88990	0.0:0.0:1.0:0.0	.	43;43;43;43	Q96A70-2;Q96A70-5;Q96A70-3;Q96A70	.;.;.;ADC_HUMAN	M	43	ENSP00000294517:V43M;ENSP00000351508:V43M;ENSP00000362542:V43M;ENSP00000381233:V43M;ENSP00000362539:V43M;ENSP00000362540:V43M	ENSP00000294517:V43M	V	+	1	0	ADC	33322163	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	7.844000	0.86867	2.400000	0.81607	0.557000	0.71058	GTG		0.547	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			17	30	0	0	0	1	0	17	30				
ZNRF4	148066	broad.mit.edu	37	19	5456148	5456148	+	Missense_Mutation	SNP	G	G	A	rs541728675		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:5456148G>A	ENST00000222033.4	+	1	723	c.646G>A	c.(646-648)Gag>Aag	p.E216K		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	216	PA.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GTTCGTGAGCGAGGCCGCCTC	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		16250	0.001		0.0	False		,,,				2504	0.0					ENST00000222033.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(646-648)Gag>Aag		zinc and ring finger 4							59.0	61.0	60.0					19																	5456148		2176	4260	6436	SO:0001583	missense	148066					integral to membrane	zinc ion binding	g.chr19:5456148G>A	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.646G>A	19.37:g.5456148G>A	ENSP00000222033:p.Glu216Lys						p.E216K	NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	723	+			216			PA.		A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	c.646G>A	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619130	0.66787	.	.	ENSG00000105428	ENST00000222033	T	0.05717	3.4	4.44	4.44	0.53790	Protease-associated domain, PA (1);	0.253197	0.32068	U	0.006637	T	0.11580	0.0282	N	0.17379	0.485	0.25386	N	0.988574	D	0.89917	1.0	D	0.80764	0.994	T	0.25328	-1.0135	10	0.29301	T	0.29	.	13.7664	0.62997	0.0:0.0:1.0:0.0	.	216	Q8WWF5	ZNRF4_HUMAN	K	216	ENSP00000222033:E216K	ENSP00000222033:E216K	E	+	1	0	ZNRF4	5407148	1.000000	0.71417	0.521000	0.27850	0.619000	0.37552	4.650000	0.61440	2.021000	0.59480	0.491000	0.48974	GAG		0.667	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		21	83	0	0	0	1	0	21	83				
LCT	3938	broad.mit.edu	37	2	136561591	136561591	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:136561591C>T	ENST00000264162.2	-	11	4582	c.4572G>A	c.(4570-4572)caG>caA	p.Q1524Q		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1524	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CTCCCAGCCTCTGGAAGAGCA	0.527																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(4570-4572)caG>caA		lactase							146.0	116.0	127.0					2																	136561591		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136561591C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.4572G>A	2.37:g.136561591C>T							p.Q1524Q	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	11	4582	-			1524			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.4572G>A	CCDS2178.1																																																																																				0.527	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		12	40	0	0	0	1	0	12	40				
SCN9A	6335	broad.mit.edu	37	2	167138190	167138190	+	Splice_Site	SNP	T	T	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:167138190T>G	ENST00000409435.1	-	12	2102	c.2103A>C	c.(2101-2103)gaA>gaC	p.E701D	SCN9A_ENST00000409672.1_Splice_Site_p.E690D|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Splice_Site_p.E702D|SCN9A_ENST00000303354.6_Splice_Site_p.E702D			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	701					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATTACATACCTTCCACAGTGT	0.353																																						ENST00000303354.6																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.e13+1		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						183.0	176.0	178.0					2																	167138190		1854	4116	5970	SO:0001630	splice_region_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167138190T>G	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2104+1A>C	2.37:g.167138190T>G						SCN9A_ENST00000375387.4_Splice_Site_p.E702_splice|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Splice_Site_p.E690_splice|SCN9A_ENST00000409435.1_Splice_Site_p.E701_splice	p.E702_splice			Q15858	SCN9A_HUMAN			13	2446	-			701					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Splice_Site	SNP	ENST00000409435.1	37	c.2107_splice	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	T	19.46	3.831042	0.71258	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.96651	-4.08;-4.07;-4.07;-4.07	5.72	5.72	0.89469	.	0.289778	0.29814	N	0.011140	D	0.95430	0.8516	M	0.66939	2.045	0.53005	D	0.999965	B;B;B	0.17852	0.006;0.003;0.024	B;B;B	0.21151	0.007;0.004;0.033	D	0.93099	0.6507	10	0.66056	D	0.02	.	16.2988	0.82793	0.0:0.0:0.0:1.0	.	690;701;702	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	D	690;702;702;701	ENSP00000386306:E690D;ENSP00000364536:E702D;ENSP00000304748:E702D;ENSP00000386330:E701D	ENSP00000304748:E702D	E	-	3	2	SCN9A	166846436	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	3.141000	0.50593	2.311000	0.77944	0.533000	0.62120	GAA		0.353	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	Missense_Mutation	10	25	0	0	0	1	0	10	25				
NEFM	4741	broad.mit.edu	37	8	24775313	24775313	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr8:24775313G>A	ENST00000221166.5	+	3	2727	c.1945G>A	c.(1945-1947)Gaa>Aaa	p.E649K	NEFM_ENST00000437366.2_Intron|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.E273K			P07197	NFM_HUMAN	neurofilament, medium polypeptide	649	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GTCACCAGTGGAAGAGAAAGG	0.502																																						ENST00000221166.5																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(1945-1947)Gaa>Aaa		neurofilament, medium polypeptide							91.0	94.0	93.0					8																	24775313		2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24775313G>A	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1945G>A	8.37:g.24775313G>A	ENSP00000221166:p.Glu649Lys					NEFM_ENST00000521540.1_Intron|NEFM_ENST00000437366.2_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.E273K|NEFM_ENST00000518131.1_Intron	p.E649K			P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	3	2727	+		Prostate(55;0.157)	649			6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.1945G>A	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.962110	0.00461	.	.	ENSG00000104722	ENST00000221166;ENST00000433454	D;D	0.93133	-1.62;-3.17	2.33	-1.82	0.07857	.	.	.	.	.	D	0.86535	0.5956	L	0.57536	1.79	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.70204	-0.4936	9	0.02654	T	1	.	3.6472	0.08189	0.3477:0.0:0.4802:0.1721	.	649	P07197	NFM_HUMAN	K	649;273	ENSP00000221166:E649K;ENSP00000412295:E273K	ENSP00000221166:E649K	E	+	1	0	NEFM	24831218	0.001000	0.12720	0.001000	0.08648	0.082000	0.17680	0.875000	0.28079	-0.569000	0.06030	0.205000	0.17691	GAA		0.502	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		18	76	0	0	0	1	0	18	76				
PLA2G5	5322	broad.mit.edu	37	1	20417104	20417104	+	Silent	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:20417104G>T	ENST00000375108.3	+	5	604	c.336G>T	c.(334-336)cgG>cgT	p.R112R	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	112					arachidonic acid secretion (GO:0050482)|glycerophospholipid biosynthetic process (GO:0046474)|leukotriene biosynthetic process (GO:0019370)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|heparin binding (GO:0008201)			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		CCTGTGACCGGAAGCTCGTCT	0.567																																						ENST00000375108.3																			0				NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(334-336)cgG>cgT		phospholipase A2, group V							172.0	155.0	161.0					1																	20417104		2203	4300	6503	SO:0001819	synonymous_variant	5322				lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr1:20417104G>T	U03090	CCDS202.1	1p36-p34	2008-09-19			ENSG00000127472	ENSG00000127472	3.1.1.4		9038	protein-coding gene	gene with protein product		601192				8838795, 8300559	Standard	NM_000929		Approved		uc001bcy.3	P39877	OTTHUMG00000002698	ENST00000375108.3:c.336G>T	1.37:g.20417104G>T						PLA2G5_ENST00000486277.1_3'UTR	p.R112R	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)	5	604	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)	112					Q8N435	Silent	SNP	ENST00000375108.3	37	c.336G>T	CCDS202.1																																																																																				0.567	PLA2G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007668.1	NM_000929		24	59	1	0	1.10513e-12	1	1.233e-12	24	59				
LRP8	7804	broad.mit.edu	37	1	53736707	53736707	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:53736707C>T	ENST00000306052.6	-	8	1346	c.1245G>A	c.(1243-1245)aaG>aaA	p.K415K	LRP8_ENST00000347547.2_Silent_p.K245K|RP4-784A16.1_ENST00000432653.1_RNA|LRP8_ENST00000371454.2_Silent_p.K415K|LRP8_ENST00000465675.1_Intron|LRP8_ENST00000354412.3_Silent_p.K286K	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	415	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TACCAGCAGCCTTGCAGTTCT	0.542																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(1243-1245)aaG>aaA		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor							180.0	141.0	154.0					1																	53736707		2203	4300	6503	SO:0001819	synonymous_variant	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53736707C>T	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1245G>A	1.37:g.53736707C>T						LRP8_ENST00000465675.1_Intron|LRP8_ENST00000347547.2_Silent_p.K245K|LRP8_ENST00000354412.3_Silent_p.K286K|LRP8_ENST00000371454.2_Silent_p.K415K	p.K415K	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			8	1346	-			415			EGF-like 2; calcium-binding (Potential).		B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Silent	SNP	ENST00000306052.6	37	c.1245G>A	CCDS578.1	.	.	.	.	.	.	.	.	.	.	C	8.702	0.909971	0.17833	.	.	ENSG00000157193	ENST00000475501	.	.	.	5.14	4.22	0.49857	.	.	.	.	.	T	0.54598	0.1868	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52540	-0.8562	4	.	.	.	.	5.3574	0.16069	0.0:0.6544:0.0:0.3456	.	.	.	.	K	104	.	.	R	-	2	0	LRP8	53509295	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.700000	0.25601	1.374000	0.46228	0.655000	0.94253	AGG		0.542	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		16	52	0	0	0	1	0	16	52				
TSHZ3	57616	broad.mit.edu	37	19	31768178	31768178	+	Nonsense_Mutation	SNP	C	C	A	rs199794016		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:31768178C>A	ENST00000240587.4	-	2	2848	c.2521G>T	c.(2521-2523)Gag>Tag	p.E841*		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	841					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AAGGCATTCTCGCGTAGCGGC	0.522																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(2521-2523)Gag>Tag		teashirt zinc finger homeobox 3							147.0	139.0	142.0					19																	31768178		2203	4300	6503	SO:0001587	stop_gained	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31768178C>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2521G>T	19.37:g.31768178C>A	ENSP00000240587:p.Glu841*						p.E841*	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	2848	-	Esophageal squamous(110;0.226)		841					Q9H0G6|Q9P254	Nonsense_Mutation	SNP	ENST00000240587.4	37	c.2521G>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	42	9.588334	0.99213	.	.	ENSG00000121297	ENST00000240587	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-32.3308	19.1085	0.93307	0.0:1.0:0.0:0.0	.	.	.	.	X	841	.	ENSP00000240587:E841X	E	-	1	0	TSHZ3	36460018	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.366000	0.79548	2.501000	0.84356	0.655000	0.94253	GAG		0.522	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		19	65	1	0	1.55795e-14	1	1.74783e-14	19	65				
SI	6476	broad.mit.edu	37	3	164733747	164733753	+	Frame_Shift_Del	DEL	ATAATGT	ATAATGT	-	rs544429384		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:164733747_164733753delATAATGT	ENST00000264382.3	-	32	3937_3943	c.3875_3881delACATTAT	c.(3874-3882)tacattattfs	p.YII1292fs		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1292	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GACCAGGATAATAATGTATCTCATTCC	0.386										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(3874-3882)ttfs		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)																																			SO:0001589	frameshift_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164733747_164733753delATAATGT	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3875_3881delACATTAT	3.37:g.164733747_164733753delATAATGT	ENSP00000264382:p.Tyr1292fs	HNSCC(35;0.089)					p.YII1292fs	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			32	3937_3943	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1292			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Frame_Shift_Del	DEL	ENST00000264382.3	37	c.3875_3881delACATTAT	CCDS3196.1																																																																																				0.386	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		9	31						9	31	---	---	---	---
TAPT1-AS1	202020	broad.mit.edu	37	4	16257859	16257860	+	RNA	INS	-	-	T	rs397691726|rs146274448|rs60066752	byFrequency	TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:16257859_16257860insT	ENST00000570786.1	+	0	234				TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA	NR_027696.1				TAPT1 antisense RNA 1 (head to head)																		GAGGGTTTGTCTTTTTTTTTTT	0.381																																						ENST00000570786.1																			0																																																			202020							g.chr4:16257859_16257860insT			4p15.32	2012-11-06	2012-11-06		ENSG00000263327	ENSG00000263327		"""Long non-coding RNAs"""	26832	non-coding RNA	RNA, long non-coding							Standard	NR_027696		Approved	FLJ39653			OTTHUMG00000160321		4.37:g.16257870_16257870dupT						TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA		NR_027696.1						0	234	+									RNA	INS	ENST00000570786.1	37																																																																																						0.381	TAPT1-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000439459.1	NR_027696		2	4						2	4	---	---	---	---
RBAK	57786	broad.mit.edu	37	7	5105180	5105180	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:5105180delA	ENST00000353796.3	+	6	2417	c.2093delA	c.(2092-2094)cagfs	p.Q698fs	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK_ENST00000396912.1_Frame_Shift_Del_p.Q698fs	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	698	Interaction with AR.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AATAGCCATCAGAGAATTCAT	0.368																																						ENST00000396912.1																			0				NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10						c.(2092-2094)cgfs		RB-associated KRAB zinc finger							69.0	77.0	74.0					7																	5105180		2192	4296	6488	SO:0001589	frameshift_variant	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5105180delA	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.2093delA	7.37:g.5105180delA	ENSP00000275423:p.Gln698fs					RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Frame_Shift_Del_p.Q698fs	p.Q698fs	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	5	2612	+		Ovarian(82;0.0175)	698			Interaction with AR.		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Frame_Shift_Del	DEL	ENST00000353796.3	37	c.2093delA	CCDS5337.1																																																																																				0.368	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		13	31						13	31	---	---	---	---
OCM2	4951	broad.mit.edu	37	7	97619416	97619416	+	Start_Codon_Del	DEL	T	T	-			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:97619416delT	ENST00000257627.4	-	0	92				OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2								calcium ion binding (GO:0005509)			lung(4)	4						GTGATGCTCATTTTCTACCTA	0.542																																						ENST00000257627.4																			0				lung(4)	4								oncomodulin 2							99.0	86.0	91.0					7																	97619416		2203	4300	6503	SO:0001582	initiator_codon_variant	4951						calcium ion binding	g.chr7:97619416delT	BC156841	CCDS5653.1	7q21.2	2014-04-01			ENSG00000135175	ENSG00000135175		"""EF-hand domain containing"""	34396	protein-coding gene	gene with protein product							Standard	NM_006188		Approved		uc003upc.3	P0CE71	OTTHUMG00000154162		7.37:g.97619416delT						OCM2_ENST00000473987.2_5'UTR		NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN			0	92	-								P32930|Q6ISI5|Q75MW0	Translation_Start_Site	DEL	ENST00000257627.4	37		CCDS5653.1																																																																																				0.542	OCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334188.1	NM_006188		9	29						9	29	---	---	---	---
WRN	7486	broad.mit.edu	37	8	30924631	30924631	+	Frame_Shift_Del	DEL	G	G	-	rs561603992		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr8:30924631delG	ENST00000298139.5	+	6	836	c.587delG	c.(586-588)cgcfs	p.R196fs		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	196	3'-5' exonuclease.|Interaction with WRNIP1. {ECO:0000250}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AAGTCTATCCGCTGTAGCAAT	0.413			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(586-588)ccfs	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							90.0	79.0	82.0					8																	30924631		2203	4300	6503	SO:0001589	frameshift_variant	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30924631delG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.587delG	8.37:g.30924631delG	ENSP00000298139:p.Arg196fs						p.R196fs	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	6	836	+		Breast(100;0.195)	196			3'-5' exonuclease.|Interaction with WRNIP1 (By similarity).		A1KYY9	Frame_Shift_Del	DEL	ENST00000298139.5	37	c.587delG	CCDS6082.1																																																																																				0.413	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			8	13						8	13	---	---	---	---
GPSM1	26086	broad.mit.edu	37	9	139235482	139235482	+	Intron	DEL	C	C	-	rs374298038|rs145729152	byFrequency	TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:139235482delC	ENST00000440944.1	+	9	1427				GPSM1_ENST00000392945.3_Frame_Shift_Del_p.L413fs	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1						cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GGGTCTTGCTCCCCACAGGCA	0.687													?|CCCC|CCC|unsure	747	0.149161	0.0961	0.0793	5008	,	,		14952	0.252		0.1372	False		,,,				2504	0.1769					ENST00000392945.3																			0				biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(1237-1239)ctfs		G-protein signaling modulator 1			,	494,3628		54,386,1621	12.0	14.0	14.0		,	0.3	0.0	9	dbSNP_134	15	1203,6943		136,931,3006	no	frameshift,intron	GPSM1	NM_015597.4,NM_001145638.1	,	190,1317,4627	A1A1,A1R,RR		14.768,11.9845,13.8327	,	,	139235482	1697,10571	2116	4195	6311	SO:0001627	intron_variant	26086				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity	g.chr9:139235482delC	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.1207+32C>-	9.37:g.139235482delC						GPSM1_ENST00000440944.1_Intron	p.L413fs	NM_015597.4	NP_056412.4	Q86YR5	GPSM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)	9	1459	+		Myeloproliferative disorder(178;0.0821)	0			Interaction with STK11/LKB1 (By similarity).|Mediates association with membranes (By similarity).		A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Frame_Shift_Del	DEL	ENST00000440944.1	37	c.1239delC	CCDS48055.1																																																																																				0.687	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015597		3	6						3	6	---	---	---	---
TRIM51HP	440041	broad.mit.edu	37	11	55063079	55063079	+	RNA	DEL	C	C	-			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:55063079delC	ENST00000526016.1	-	0	558					NR_038174.2				tripartite motif-containing 51H, pseudogene																		CACAGCCTCTCCAAATGTTGT	0.413																																						ENST00000526016.1																			0																																																			440041							g.chr11:55063079delC			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55063079delC								NR_038174.2						0	558	-									RNA	DEL	ENST00000526016.1	37																																																																																						0.413	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			7	22						7	22	---	---	---	---
AJUBA	84962	broad.mit.edu	37	14	23450571	23450571	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:23450571delG	ENST00000262713.2	-	1	1280	c.905delC	c.(904-906)tcgfs	p.S302fs	RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.4_ENST00000557615.1_RNA|AJUBA_ENST00000361265.4_Frame_Shift_Del_p.S302fs|RP11-298I3.4_ENST00000555294.1_RNA|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	302	PreLIM.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CTCAATCCCCGAGGGTTCTCC	0.701																																						ENST00000262713.2																			0											c.(904-906)tgfs		ajuba LIM protein							17.0	22.0	20.0					14																	23450571		2195	4297	6492	SO:0001589	frameshift_variant	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23450571delG	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.905delC	14.37:g.23450571delG	ENSP00000262713:p.Ser302fs					AJUBA_ENST00000361265.4_Frame_Shift_Del_p.S302fs|RP11-298I3.5_ENST00000555074.1_Intron	p.S302fs	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			1	1280	-			302			PreLIM.		A8MX18|D3DS37	Frame_Shift_Del	DEL	ENST00000262713.2	37	c.905delC	CCDS9581.1																																																																																				0.701	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			38	22						38	22	---	---	---	---
NLRC3	197358	broad.mit.edu	37	16	3594162	3594163	+	RNA	INS	-	-	A	rs60164526		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:3594162_3594163insA	ENST00000301749.7	-	0	3261				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA|LA16c-390H2.4_ENST00000573820.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ttgtctcgaggaaaaaaaaaaa	0.49																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3																																						197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3594162_3594163insA	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3594173_3594173dupA						NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	3261	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	INS	ENST00000301749.7	37																																																																																						0.490	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		2	4						2	4	---	---	---	---
KANSL1	284058	broad.mit.edu	37	17	44248524	44248525	+	Frame_Shift_Del	DEL	AA	AA	-	rs281865473		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:44248524_44248525delAA	ENST00000262419.6	-	2	1455_1456	c.985_986delTT	c.(985-987)ttgfs	p.L329fs	KANSL1_ENST00000432791.1_Frame_Shift_Del_p.L329fs|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.L329fs|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.L329fs|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.L329fs|KANSL1_ENST00000576248.1_5'Flank	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	329					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CAGTTTGCTCAAAGTCTTCTCC	0.51																																						ENST00000262419.6																			0											c.(985-987)gfs		KAT8 regulatory NSL complex subunit 1			,,	3,4261		1,1,2130					,,	3.6	1.0			89	1,8253		0,1,4126	no	frameshift,frameshift,frameshift	KIAA1267	NM_015443.3,NM_001193466.1,NM_001193465.1	,,	1,2,6256	A1A1,A1R,RR		0.0121,0.0704,0.032	,,	,,		4,12514				SO:0001589	frameshift_variant	284058					MLL1 complex	protein binding	g.chr17:44248524_44248525delAA	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.985_986delTT	17.37:g.44248524_44248525delAA	ENSP00000262419:p.Leu329fs					KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.L329fs|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.L329fs|KANSL1_ENST00000432791.1_Frame_Shift_Del_p.L329fs|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.L329fs	p.L329fs	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			2	1455_1456	-			329					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Frame_Shift_Del	DEL	ENST00000262419.6	37	c.985_986delTT	CCDS11503.1																																																																																				0.510	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		19	105						19	105	---	---	---	---
ARAF	369	broad.mit.edu	37	X	47422420	47422420	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:47422420delG	ENST00000377045.4	+	2	248	c.54delG	c.(52-54)gtgfs	p.V18fs	ARAF_ENST00000377039.2_Frame_Shift_Del_p.V18fs|ARAF_ENST00000290277.6_Frame_Shift_Del_p.V18fs	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	18					cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CCCGGGCAGTGGGCACCGTCA	0.612											OREG0019758	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377045.4																			0				biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(52-54)gtfs		v-raf murine sarcoma 3611 viral oncogene homolog	Adenosine triphosphate(DB00171)						35.0	31.0	32.0					X																	47422420		2195	4293	6488	SO:0001589	frameshift_variant	369				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chrX:47422420delG	X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"""v-raf murine sarcoma 3611 viral oncogene homolog 1"""	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.54delG	X.37:g.47422420delG	ENSP00000366244:p.Val18fs		OREG0019758	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	946	ARAF_ENST00000377039.2_Frame_Shift_Del_p.V18fs|ARAF_ENST00000290277.6_Frame_Shift_Del_p.V18fs	p.V18fs	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN			2	248	+			18					P07557|Q5H9B2|Q5H9B3	Frame_Shift_Del	DEL	ENST00000377045.4	37	c.54delG	CCDS35232.1																																																																																				0.612	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1			2	4						2	4	---	---	---	---
CXXC1P1	392459	broad.mit.edu	37	X	47578328	47578329	+	RNA	INS	-	-	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:47578328_47578329insT	ENST00000483225.1	+	0	195					NR_033924.1				CXXC finger protein 1 pseudogene 1																		CAAAGCTGCCGTTTTTTTGTGT	0.495																																						ENST00000483225.1																			0																																																			392459							g.chrX:47578328_47578329insT	AK094108		Xp11.3	2011-12-01	2011-12-01	2010-07-02	ENSG00000187893	ENSG00000187893			27864	pseudogene	pseudogene			"""chromosome X open reading frame 25"", ""non-protein coding RNA 236"", ""CXXC finger 1 pseudogene 1"""	CXorf25, NCRNA00236		14702039	Standard	NR_033924		Approved	FLJ36789	uc004dio.1		OTTHUMG00000021450		X.37:g.47578335_47578335dupT								NR_033924.1						0	195	+									RNA	INS	ENST00000483225.1	37																																																																																						0.495	CXXC1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000056433.2			2	4						2	4	---	---	---	---
