#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
ASB5	140458	broad.mit.edu	37	4	177142709	177142709	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr4:177142709C>T	ENST00000296525.3	-	4	540	c.427G>A	c.(427-429)Gca>Aca	p.A143T	ASB5_ENST00000511879.1_5'UTR|ASB5_ENST00000512254.1_Missense_Mutation_p.A90T	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	143					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TGGGAGCATGCGTTGAATAAC	0.483																																						ENST00000296525.3																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34						c.(427-429)Gca>Aca		ankyrin repeat and SOCS box containing 5							121.0	110.0	113.0					4																	177142709		2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177142709C>T	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.427G>A	4.37:g.177142709C>T	ENSP00000296525:p.Ala143Thr					ASB5_ENST00000511879.1_5'UTR|ASB5_ENST00000512254.1_Missense_Mutation_p.A90T	p.A143T	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	4	540	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	143					Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.427G>A	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672931	0.88445	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	D;D	0.81996	-1.56;-1.56	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	0.096155	0.64402	D	0.000001	D	0.90844	0.7124	M	0.91354	3.2	0.80722	D	1	D;D	0.71674	0.993;0.998	P;P	0.51701	0.529;0.677	D	0.92342	0.5882	10	0.72032	D	0.01	-21.3266	19.3249	0.94258	0.0:1.0:0.0:0.0	.	143;90	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	T	143;90	ENSP00000296525:A143T;ENSP00000422877:A90T	ENSP00000296525:A143T	A	-	1	0	ASB5	177379703	1.000000	0.71417	0.493000	0.27502	0.457000	0.32468	7.014000	0.76380	2.805000	0.96524	0.655000	0.94253	GCA		0.483	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			3	62	0	0	0	1	0	3	62				
PGLYRP4	57115	broad.mit.edu	37	1	153317834	153317834	+	Missense_Mutation	SNP	G	G	A	rs200715095		TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr1:153317834G>A	ENST00000359650.5	-	4	228	c.164C>T	c.(163-165)aCg>aTg	p.T55M	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.T51M|PGLYRP4_ENST00000490266.1_5'UTR	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	55					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.T55M(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCGAGAGACCGTGGTGGAGAC	0.587																																						ENST00000368739.3																			1	Substitution - Missense(1)	p.T55M(1)	ovary(1)	breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.(151-153)aCg>aTg		peptidoglycan recognition protein 4							127.0	98.0	108.0					1																	153317834		2203	4300	6503	SO:0001583	missense	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153317834G>A	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.164C>T	1.37:g.153317834G>A	ENSP00000352672:p.Thr55Met					PGLYRP4_ENST00000490266.1_5'UTR|PGLYRP4_ENST00000359650.5_Missense_Mutation_p.T55M	p.T51M			Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	510	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		55					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	c.152C>T	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	G	0.539	-0.854573	0.02630	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.04603	3.61;3.59	3.2	-1.57	0.08506	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (2);	.	.	.	.	T	0.00468	0.0015	N	0.01576	-0.805	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.45848	-0.9233	9	0.24483	T	0.36	-17.5147	2.2658	0.04078	0.4913:0.0:0.2841:0.2246	.	51;55	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	M	51;55	ENSP00000357728:T51M;ENSP00000352672:T55M	ENSP00000352672:T55M	T	-	2	0	PGLYRP4	151584458	0.000000	0.05858	0.204000	0.23530	0.070000	0.16714	0.510000	0.22723	0.026000	0.15269	-0.657000	0.03884	ACG		0.587	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		22	55	0	0	0	1	0	22	55				
ZFAND3	60685	broad.mit.edu	37	6	38120150	38120150	+	Silent	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr6:38120150G>A	ENST00000287218.4	+	6	1116	c.669G>A	c.(667-669)ggG>ggA	p.G223G	ZFAND3_ENST00000373391.2_Silent_p.G201G|ZFAND3_ENST00000463847.1_3'UTR	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	223							DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						AGCGCATCGGGGAGGGGTGCT	0.567																																						ENST00000287218.4																			0				endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						c.(667-669)ggG>ggA		zinc finger, AN1-type domain 3							90.0	85.0	86.0					6																	38120150		2203	4300	6503	SO:0001819	synonymous_variant	60685						DNA binding|zinc ion binding	g.chr6:38120150G>A	AK023284	CCDS4836.1	6p21.2	2013-09-19	2005-12-15	2005-12-15	ENSG00000156639	ENSG00000156639		"""Zinc fingers, AN1-type domain containing"""	18019	protein-coding gene	gene with protein product		607455	"""testis expressed sequence 27"""	TEX27			Standard	NM_021943		Approved	FLJ13222	uc003onx.3	Q9H8U3	OTTHUMG00000014629	ENST00000287218.4:c.669G>A	6.37:g.38120150G>A						ZFAND3_ENST00000463847.1_3'UTR|ZFAND3_ENST00000373391.2_Silent_p.G201G	p.G223G	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN			6	1116	+			223					Q5SZZ0|Q5SZZ1	Silent	SNP	ENST00000287218.4	37	c.669G>A	CCDS4836.1																																																																																				0.567	ZFAND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040424.3	NM_021943		4	100	0	0	0	1	0	4	100				
PSG7	5676	broad.mit.edu	37	19	43439576	43439576	+	RNA	SNP	C	C	T	rs184987448	byFrequency	TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr19:43439576C>T	ENST00000406070.2	-	0	506				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				GAAGGTGAAACGTCCAGTTAC	0.507																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							281.0	261.0	268.0					19																	43439576		2201	4299	6500			5676				female pregnancy	extracellular region		g.chr19:43439576C>T			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439576C>T						PSG7_ENST00000406070.2_RNA				Q13046	PSG7_HUMAN			0	499	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.507	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		59	232	0	0	0	1	0	59	232				
DGKA	1606	broad.mit.edu	37	12	56335069	56335069	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr12:56335069G>A	ENST00000331886.5	+	14	1589	c.1135G>A	c.(1135-1137)Gtc>Atc	p.V379I	DGKA_ENST00000394147.1_Missense_Mutation_p.V379I|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Missense_Mutation_p.V379I	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	379	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.			V -> L (in Ref. 2; AAC34802). {ECO:0000305}.	blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)	p.V379I(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CCCACTTCTCGTCTTTGTCAA	0.493																																						ENST00000331886.5																			1	Substitution - Missense(1)	p.V379I(1)	pancreas(1)	breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(1135-1137)Gtc>Atc		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						115.0	114.0	114.0					12																	56335069		2203	4300	6503	SO:0001583	missense	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56335069G>A	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.1135G>A	12.37:g.56335069G>A	ENSP00000328405:p.Val379Ile					DGKA_ENST00000551156.1_Missense_Mutation_p.V379I|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.V379I	p.V379I	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN			14	1589	+			379	V -> L (in Ref. 2; AAC34802).		DAGKc.		O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	ENST00000331886.5	37	c.1135G>A	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	G	36	5.648661	0.96714	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156;ENST00000552903	T;T;T;T;T	0.50548	0.79;0.74;0.79;0.79;0.74	5.85	5.85	0.93711	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	M	0.74389	2.26	0.80722	D	1	D;D	0.76494	0.999;0.995	P;P	0.59487	0.778;0.858	T	0.68379	-0.5424	10	0.66056	D	0.02	.	19.3175	0.94220	0.0:0.0:1.0:0.0	.	298;379	G3V4E1;P23743	.;DGKA_HUMAN	I	379;298;379;379;14	ENSP00000328405:V379I;ENSP00000451743:V298I;ENSP00000377703:V379I;ENSP00000450359:V379I;ENSP00000451518:V14I	ENSP00000328405:V379I	V	+	1	0	DGKA	54621336	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	9.241000	0.95402	2.941000	0.99782	0.655000	0.94253	GTC		0.493	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			25	84	0	0	0	1	0	25	84				
MYH13	8735	broad.mit.edu	37	17	10209888	10209888	+	Missense_Mutation	SNP	C	C	T	rs370257882		TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr17:10209888C>T	ENST00000418404.3	-	36	5517	c.5354G>A	c.(5353-5355)cGg>cAg	p.R1785Q	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R1785Q			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1785					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTTCTTCATCCGCTCCAGGTG	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17576	0.0		0.0	False		,,,				2504	0.0					ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(5353-5355)cGg>cAg		myosin, heavy chain 13, skeletal muscle		C	GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	124.0	123.0	123.0		5354	4.2	1.0	17		123	0,8600		0,0,4300	no	missense	MYH13	NM_003802.2	43	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging	1785/1939	10209888	4,13002	2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10209888C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5354G>A	17.37:g.10209888C>T	ENSP00000404570:p.Arg1785Gln					MYH13_ENST00000570743.1_Missense_Mutation_p.R1785Q|MYH13_ENST00000252172.4_Missense_Mutation_p.R1785Q	p.R1785Q			Q9UKX3	MYH13_HUMAN			36	5517	-			1785					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5354G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	33	5.243871	0.95272	9.08E-4	0.0	ENSG00000006788	ENST00000252172	T	0.77877	-1.13	4.22	4.22	0.49857	Myosin tail (1);	.	.	.	.	D	0.90696	0.7081	H	0.94808	3.585	0.39963	D	0.974683	D	0.71674	0.998	D	0.66084	0.941	D	0.94127	0.7385	9	0.87932	D	0	.	17.1412	0.86754	0.0:1.0:0.0:0.0	.	1785	Q9UKX3	MYH13_HUMAN	Q	1785	ENSP00000252172:R1785Q	ENSP00000252172:R1785Q	R	-	2	0	MYH13	10150613	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.874000	0.69652	2.347000	0.79759	0.491000	0.48974	CGG		0.572	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		34	108	0	0	0	1	0	34	108				
PTEN	5728	broad.mit.edu	37	10	89692877	89692877	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr10:89692877G>A	ENST00000371953.3	+	5	1718	c.361G>A	c.(361-363)Gca>Aca	p.A121T		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	121	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		A -> G (in HNSCC). {ECO:0000269|PubMed:11801303}.|A -> P (in glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4). {ECO:0000269|PubMed:9331071}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.A121P(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCATGTTGCAGCAATTCACTG	0.393		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		54	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Substitution - Missense(3)|Deletion - In frame(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.A121P(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(13)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(361-363)Gca>Aca		phosphatase and tensin homolog							138.0	127.0	131.0					10																	89692877		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692877G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.361G>A	10.37:g.89692877G>A	ENSP00000361021:p.Ala121Thr	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.A121T	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1718	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	121		A -> G (in HNSCC).|A -> P (in glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.361G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	35	5.440465	0.96168	.	.	ENSG00000171862	ENST00000371953	D	0.85861	-2.04	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94709	0.8293	H	0.95365	3.66	0.80722	D	1	D	0.67145	0.996	D	0.67725	0.953	D	0.96215	0.9156	9	.	.	.	-11.9241	18.7776	0.91918	0.0:0.0:1.0:0.0	.	121	P60484	PTEN_HUMAN	T	121	ENSP00000361021:A121T	.	A	+	1	0	PTEN	89682857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	GCA		0.393	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		17	56	0	0	0	1	0	17	56				
KLF5	688	broad.mit.edu	37	13	73649880	73649880	+	Silent	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr13:73649880C>T	ENST00000377687.4	+	4	1766	c.1230C>T	c.(1228-1230)tgC>tgT	p.C410C	KLF5_ENST00000539231.1_Silent_p.C319C	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	410					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GGGAAGGCTGCGACTGGAGGT	0.572																																						ENST00000377687.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1228-1230)tgC>tgT		Kruppel-like factor 5 (intestinal)							105.0	105.0	105.0					13																	73649880		2203	4300	6503	SO:0001819	synonymous_variant	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73649880C>T	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.1230C>T	13.37:g.73649880C>T						KLF5_ENST00000539231.1_Silent_p.C319C	p.C410C	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	4	1766	+		Prostate(6;0.00187)|Breast(118;0.0735)	410					L0R3U5|L0R4T9|Q9UHP8	Silent	SNP	ENST00000377687.4	37	c.1230C>T	CCDS9448.1																																																																																				0.572	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1			20	99	0	0	0	1	0	20	99				
CYP4F2	8529	broad.mit.edu	37	19	16006353	16006353	+	Silent	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr19:16006353G>A	ENST00000221700.6	-	3	401	c.306C>T	c.(304-306)tgC>tgT	p.C102C	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.C102C(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTCGGGGTGGCACAAACTGA	0.597																																						ENST00000221700.5																			1	Substitution - coding silent(1)	p.C102C(1)	kidney(1)	NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(304-306)tgC>tgT		cytochrome P450, family 4, subfamily F, polypeptide 2							121.0	130.0	127.0					19																	16006353		2203	4300	6503	SO:0001819	synonymous_variant	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16006353G>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.306C>T	19.37:g.16006353G>A						CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Intron	p.C102C	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			3	401	-			102						Silent	SNP	ENST00000221700.6	37	c.306C>T	CCDS12336.1																																																																																				0.597	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		4	158	0	0	0	1	0	4	158				
ZFHX3	463	broad.mit.edu	37	16	72821615	72821615	+	Silent	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr16:72821615G>A	ENST00000268489.5	-	10	11232	c.10560C>T	c.(10558-10560)ggC>ggT	p.G3520G	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3520	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccgccaccgccgc	0.706																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10558-10560)ggC>ggT		zinc finger homeobox 3							10.0	14.0	12.0					16																	72821615		1455	3158	4613	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821615G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10560C>T	16.37:g.72821615G>A						AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G	p.G3520G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11232	-		Ovarian(137;0.13)	3520			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10560C>T	CCDS10908.1																																																																																				0.706	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		3	23	0	0	0	1	0	3	23				
PRSS3P2	154754	broad.mit.edu	37	7	142481789	142481789	+	RNA	SNP	T	T	C	rs374686280		TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr7:142481789T>C	ENST00000603901.1	+	0	468					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ACTACCCAGATGAGCTGCAGT	0.488																																						ENST00000603901.1																			0																																																			0							g.chr7:142481789T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481789T>C								NR_001296.3						0	468	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.488	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	99	0	0	0	1	0	4	99				
TEX9	374618	broad.mit.edu	37	15	56686955	56686955	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr15:56686955G>A	ENST00000352903.2	+	9	775	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	TEX9_ENST00000537232.1_Missense_Mutation_p.E176K|TEX9_ENST00000558083.2_Missense_Mutation_p.E176K|TEX9_ENST00000561221.2_Missense_Mutation_p.E251K|RP11-48G14.2_ENST00000564401.1_lincRNA|TEX9_ENST00000560582.1_Missense_Mutation_p.E7K	NM_198524.1	NP_940926.1	Q8N6V9	TEX9_HUMAN	testis expressed 9	251								p.E251Q(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		GTCTCAAGTAGAAAAATACAA	0.303																																						ENST00000558083.2																			1	Substitution - Missense(1)	p.E251Q(1)	cervix(1)	cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14						c.(526-528)Gaa>Aaa		testis expressed 9							46.0	50.0	49.0					15																	56686955		2192	4284	6476	SO:0001583	missense	374618							g.chr15:56686955G>A	BC028119	CCDS10157.1, CCDS66776.1	15q21.3	2007-03-13	2007-03-13		ENSG00000151575	ENSG00000151575			29585	protein-coding gene	gene with protein product			"""testis expressed sequence 9"""				Standard	XM_005254361		Approved		uc002adp.3	Q8N6V9	OTTHUMG00000132035	ENST00000352903.2:c.751G>A	15.37:g.56686955G>A	ENSP00000342169:p.Glu251Lys					RP11-48G14.2_ENST00000564401.1_lincRNA|TEX9_ENST00000560582.1_Missense_Mutation_p.E7K|TEX9_ENST00000537232.1_Missense_Mutation_p.E176K|TEX9_ENST00000352903.2_Missense_Mutation_p.E251K|TEX9_ENST00000561221.2_Missense_Mutation_p.E251K	p.E176K			Q8N6V9	TEX9_HUMAN		all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)	8	856	+			251					B4DH73	Missense_Mutation	SNP	ENST00000352903.2	37	c.526G>A	CCDS10157.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933634	0.92458	.	.	ENSG00000151575	ENST00000352903;ENST00000537232	T;T	0.80824	-1.42;-1.42	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.90017	0.6883	M	0.82323	2.585	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	D	0.89933	0.4067	10	0.42905	T	0.14	-28.4564	17.4112	0.87486	0.0:0.0:1.0:0.0	.	176;251	B4DH73;Q8N6V9	.;TEX9_HUMAN	K	251;176	ENSP00000342169:E251K;ENSP00000438745:E176K	ENSP00000342169:E251K	E	+	1	0	TEX9	54474247	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	7.535000	0.82014	2.453000	0.82957	0.591000	0.81541	GAA		0.303	TEX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255048.2	NM_198524		15	27	0	0	0	1	0	15	27				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		3	37	0	0	0	1	0	3	37				
CUL2	8453	broad.mit.edu	37	10	35320290	35320290	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr10:35320290G>A	ENST00000374748.1	-	15	1637	c.1324C>T	c.(1324-1326)Cgt>Tgt	p.R442C	CUL2_ENST00000374746.1_Missense_Mutation_p.R442C|CUL2_ENST00000602371.1_Missense_Mutation_p.R385C|CUL2_ENST00000374742.1_Missense_Mutation_p.R442C|CUL2_ENST00000374749.3_Missense_Mutation_p.R442C|CUL2_ENST00000537177.1_Missense_Mutation_p.R461C|CUL2_ENST00000374751.3_Missense_Mutation_p.R442C			Q13617	CUL2_HUMAN	cullin 2	442					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TGAATTAAACGTTTTGCCAGC	0.303																																						ENST00000374748.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						c.(1324-1326)Cgt>Tgt		cullin 2							82.0	82.0	82.0					10																	35320290		2203	4300	6503	SO:0001583	missense	8453				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|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35320290G>A	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.1324C>T	10.37:g.35320290G>A	ENSP00000363880:p.Arg442Cys					CUL2_ENST00000374749.3_Missense_Mutation_p.R442C|CUL2_ENST00000374746.1_Missense_Mutation_p.R442C|CUL2_ENST00000374742.1_Missense_Mutation_p.R442C|CUL2_ENST00000602371.1_Missense_Mutation_p.R385C|CUL2_ENST00000537177.1_Missense_Mutation_p.R461C|CUL2_ENST00000374751.3_Missense_Mutation_p.R442C	p.R442C			Q13617	CUL2_HUMAN			15	1637	-			442					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.1324C>T	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635151	0.67130	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	D;D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6;-2.6	5.87	4.96	0.65561	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.93943	0.8061	M	0.85299	2.745	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93805	0.7104	10	0.87932	D	0	-18.5811	9.4491	0.38714	0.0714:0.0:0.7011:0.2275	.	442;461;442	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	C	442;442;442;442;385;442;461	ENSP00000363883:R442C;ENSP00000363880:R442C;ENSP00000363878:R442C;ENSP00000363881:R442C;ENSP00000363874:R442C;ENSP00000444856:R461C	ENSP00000363874:R442C	R	-	1	0	CUL2	35360296	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.320000	0.51991	2.767000	0.95098	0.591000	0.81541	CGT		0.303	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		8	20	0	0	0	1	0	8	20				
MYH13	8735	broad.mit.edu	37	17	10216566	10216566	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr17:10216566C>T	ENST00000418404.3	-	29	4253	c.4090G>A	c.(4090-4092)Gcg>Acg	p.A1364T	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.A1364T			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1364					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTGGACAGCGCCCTCTGCAGC	0.637																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(4090-4092)Gcg>Acg		myosin, heavy chain 13, skeletal muscle							168.0	153.0	158.0					17																	10216566		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10216566C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4090G>A	17.37:g.10216566C>T	ENSP00000404570:p.Ala1364Thr					MYH13_ENST00000570743.1_Missense_Mutation_p.A1364T|MYH13_ENST00000252172.4_Missense_Mutation_p.A1364T	p.A1364T			Q9UKX3	MYH13_HUMAN			29	4253	-			1364					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.4090G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481810	0.63849	.	.	ENSG00000006788	ENST00000252172	D	0.82619	-1.63	3.95	3.95	0.45737	Myosin tail (1);	.	.	.	.	D	0.82802	0.5116	M	0.83692	2.655	0.22280	N	0.999236	B	0.06786	0.001	B	0.18263	0.021	T	0.71669	-0.4523	9	0.32370	T	0.25	.	10.2611	0.43427	0.0:0.9081:0.0:0.0919	.	1364	Q9UKX3	MYH13_HUMAN	T	1364	ENSP00000252172:A1364T	ENSP00000252172:A1364T	A	-	1	0	MYH13	10157291	0.000000	0.05858	1.000000	0.80357	0.975000	0.68041	-0.071000	0.11505	2.202000	0.70862	0.455000	0.32223	GCG		0.637	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		40	131	0	0	0	1	0	40	131				
NLE1	54475	broad.mit.edu	37	17	33464148	33464148	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr17:33464148T>A	ENST00000442241.4	-	7	739	c.700A>T	c.(700-702)Act>Tct	p.T234S	NLE1_ENST00000360831.5_Missense_Mutation_p.T192S|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	234					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CGGCCTGCAGTTGTGTCCCAG	0.632																																						ENST00000442241.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22						c.(700-702)Act>Tct		notchless homolog 1 (Drosophila)							68.0	61.0	63.0					17																	33464148		2203	4300	6503	SO:0001583	missense	54475					nucleolus		g.chr17:33464148T>A		CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"""WD repeat domain containing"""	19889	protein-coding gene	gene with protein product	"""Notchless gene homolog, (Drosophila)"""						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.700A>T	17.37:g.33464148T>A	ENSP00000413572:p.Thr234Ser					NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000360831.5_Missense_Mutation_p.T192S|NLE1_ENST00000586869.1_5'UTR	p.T234S	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN			7	739	-		Ovarian(249;0.17)	234					O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	ENST00000442241.4	37	c.700A>T	CCDS11291.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.539|4.539	0.100073|0.100073	0.08731|0.08731	.|.	.|.	ENSG00000073536|ENSG00000073536	ENST00000436188|ENST00000442241;ENST00000537697	.|T	.|0.26518	.|1.73	4.6|4.6	2.24|2.24	0.28232|0.28232	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.322303	.|0.32640	.|N	.|0.005840	T|T	0.09949|0.09949	0.0244|0.0244	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	0.999999|0.999999	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.29212|0.29212	-1.0019|-1.0019	5|10	.|0.07990	.|T	.|0.79	-6.0295|-6.0295	3.1668|3.1668	0.06539|0.06539	0.1739:0.1908:0.0:0.6353|0.1739:0.1908:0.0:0.6353	.|.	.|234	.|Q9NVX2	.|NLE1_HUMAN	H|S	13|234;210	.|ENSP00000413572:T234S	.|ENSP00000413572:T234S	Q|T	-|-	3|1	2|0	NLE1|NLE1	30488261|30488261	0.005000|0.005000	0.15991|0.15991	0.116000|0.116000	0.21606|0.21606	0.996000|0.996000	0.88848|0.88848	0.309000|0.309000	0.19332|0.19332	0.805000|0.805000	0.34159|0.34159	0.533000|0.533000	0.62120|0.62120	CAA|ACT		0.632	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096		8	35	0	0	0	1	0	8	35				
SORCS3	22986	broad.mit.edu	37	10	106602566	106602566	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr10:106602566C>T	ENST00000369701.3	+	2	871	c.644C>T	c.(643-645)aCg>aTg	p.T215M		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	215					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTTATCCTGACGAAGCTGTAT	0.463																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(643-645)aCg>aTg		sortilin-related VPS10 domain containing receptor 3							97.0	89.0	92.0					10																	106602566		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106602566C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.644C>T	10.37:g.106602566C>T	ENSP00000358715:p.Thr215Met						p.T215M	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	2	871	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	215					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.644C>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.438188	0.62955	.	.	ENSG00000156395	ENST00000369701	T	0.42513	0.97	5.78	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.54549	0.1865	L	0.41492	1.28	0.37977	D	0.93348	D	0.89917	1.0	D	0.70716	0.97	T	0.62553	-0.6830	10	0.87932	D	0	.	13.8987	0.63790	0.0:0.9275:0.0:0.0725	.	215	Q9UPU3	SORC3_HUMAN	M	215	ENSP00000358715:T215M	ENSP00000358715:T215M	T	+	2	0	SORCS3	106592556	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.144000	0.71762	1.450000	0.47717	-0.251000	0.11542	ACG		0.463	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		14	31	0	0	0	1	0	14	31				
NR1H3	10062	broad.mit.edu	37	11	47282968	47282968	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr11:47282968C>T	ENST00000467728.1	+	4	1914	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	NR1H3_ENST00000395397.3_Missense_Mutation_p.R181W|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.R226W|NR1H3_ENST00000441012.2_Missense_Mutation_p.R226W|NR1H3_ENST00000481889.2_Missense_Mutation_p.R181W|NR1H3_ENST00000527949.1_Missense_Mutation_p.R135W|NR1H3_ENST00000405576.1_Missense_Mutation_p.R181W|NR1H3_ENST00000407404.1_Missense_Mutation_p.R226W			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	226	Ligand-binding. {ECO:0000255}.				apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R226W(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						ACAGTGTAACCGGCGCTCCTT	0.627																																						ENST00000467728.1																			1	Substitution - Missense(1)	p.R226W(1)	ovary(1)	endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(676-678)Cgg>Tgg		nuclear receptor subfamily 1, group H, member 3							57.0	55.0	56.0					11																	47282968		2201	4298	6499	SO:0001583	missense	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47282968C>T	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.676C>T	11.37:g.47282968C>T	ENSP00000420656:p.Arg226Trp					NR1H3_ENST00000527949.1_Missense_Mutation_p.R135W|NR1H3_ENST00000441012.2_Missense_Mutation_p.R226W|NR1H3_ENST00000405853.3_Missense_Mutation_p.R226W|NR1H3_ENST00000395397.3_Missense_Mutation_p.R181W|NR1H3_ENST00000405576.1_Missense_Mutation_p.R181W|NR1H3_ENST00000481889.2_Missense_Mutation_p.R181W|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000407404.1_Missense_Mutation_p.R226W	p.R226W			Q13133	NR1H3_HUMAN			4	1914	+			226			Ligand-binding (Potential).		A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	c.676C>T	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.245738	0.39697	.	.	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000531660;ENST00000407404;ENST00000441012;ENST00000467728;ENST00000405853;ENST00000527949	D;D;D;T;D;D;D;D;D	0.95171	-3.63;-3.17;-3.09;0.77;-3.19;-3.63;-3.63;-3.19;-3.38	5.35	-2.12	0.07165	Nuclear hormone receptor, ligand-binding (2);	0.490245	0.21912	N	0.067300	D	0.89030	0.6599	N	0.22421	0.69	0.38914	D	0.957583	B;B;B;B;B	0.23377	0.003;0.0;0.0;0.084;0.003	B;B;B;B;B	0.12156	0.0;0.001;0.001;0.007;0.003	T	0.77466	-0.2577	10	0.49607	T	0.09	.	19.3745	0.94503	0.2761:0.7239:0.0:0.0	.	232;181;226;181;226	B4DXU5;B5MBY7;Q13133;E9PLL4;Q13133-2	.;.;NR1H3_HUMAN;.;.	W	181;181;181;92;226;226;226;226;135	ENSP00000378793:R181W;ENSP00000385073:R181W;ENSP00000433271:R181W;ENSP00000434650:R92W;ENSP00000385801:R226W;ENSP00000387946:R226W;ENSP00000420656:R226W;ENSP00000384745:R226W;ENSP00000432073:R135W	ENSP00000378793:R181W	R	+	1	2	NR1H3	47239544	0.955000	0.32602	0.295000	0.24960	0.930000	0.56654	0.950000	0.29122	-0.109000	0.12044	-0.262000	0.10625	CGG		0.627	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			7	36	0	0	0	1	0	7	36				
PCDHA2	56146	broad.mit.edu	37	5	140175891	140175891	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr5:140175891G>A	ENST00000526136.1	+	1	1342	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	PCDHA2_ENST00000378132.1_Missense_Mutation_p.V448M|PCDHA2_ENST00000520672.2_Missense_Mutation_p.V448M|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	448	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCCGACGTGAACGACAA	0.647																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1342-1344)Gtg>Atg									81.0	80.0	80.0					5																	140175891		2203	4300	6503	SO:0001583	missense	0							g.chr5:140175891G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1342G>A	5.37:g.140175891G>A	ENSP00000431748:p.Val448Met					PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.V448M|PCDHA2_ENST00000520672.2_Missense_Mutation_p.V448M|PCDHA1_ENST00000504120.2_Intron	p.V448M	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1342	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1342G>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	20.6	4.025765	0.75390	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.63744	-0.06;-0.06;-0.06	3.98	3.98	0.46160	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.35870	U	0.002930	T	0.81408	0.4816	M	0.88105	2.93	0.42689	D	0.993572	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.69142	0.962;0.953;0.962	D	0.86586	0.1857	10	0.72032	D	0.01	.	16.4215	0.83760	0.0:0.0:1.0:0.0	.	448;448;448	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	M	448	ENSP00000430584:V448M;ENSP00000367372:V448M;ENSP00000431748:V448M	ENSP00000367372:V448M	V	+	1	0	PCDHA2	140156075	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	4.537000	0.60643	1.920000	0.55613	0.650000	0.86243	GTG		0.647	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		21	82	0	0	0	1	0	21	82				
ADAMTS2	9509	broad.mit.edu	37	5	178559266	178559266	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr5:178559266A>T	ENST00000251582.7	-	15	2356	c.2255T>A	c.(2254-2256)cTc>cAc	p.L752H		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	752	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTCCTGAATGAGCAGGTGTCT	0.527																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2254-2256)cTc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 2							119.0	109.0	113.0					5																	178559266		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178559266A>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2255T>A	5.37:g.178559266A>T	ENSP00000251582:p.Leu752His						p.L752H	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	15	2356	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	752			Spacer.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2255T>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.476057	0.44044	.	.	ENSG00000087116	ENST00000251582	T	0.52754	0.65	5.33	5.33	0.75918	ADAM-TS Spacer 1 (1);	0.000000	0.44285	D	0.000467	T	0.62551	0.2437	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.58668	-0.7596	10	0.13853	T	0.58	.	14.4798	0.67573	1.0:0.0:0.0:0.0	.	752	O95450	ATS2_HUMAN	H	752	ENSP00000251582:L752H	ENSP00000251582:L752H	L	-	2	0	ADAMTS2	178491872	0.431000	0.25546	1.000000	0.80357	0.979000	0.70002	5.043000	0.64208	2.028000	0.59812	0.459000	0.35465	CTC		0.527	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		5	37	0	0	0	1	0	5	37				
LRP10	26020	broad.mit.edu	37	14	23346491	23346491	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr14:23346491A>G	ENST00000359591.4	+	7	2588	c.1897A>G	c.(1897-1899)Act>Gct	p.T633A	LRP10_ENST00000470660.1_Intron|LRP10_ENST00000546834.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	633	Pro-rich.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		AGCCCCCACTACTGTCCCTGA	0.672																																						ENST00000359591.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(1897-1899)Act>Gct		low density lipoprotein receptor-related protein 10							54.0	63.0	60.0					14																	23346491		2198	4295	6493	SO:0001583	missense	26020				endocytosis	coated pit|integral to membrane		g.chr14:23346491A>G	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1897A>G	14.37:g.23346491A>G	ENSP00000352601:p.Thr633Ala					LRP10_ENST00000470660.1_Intron|LRP10_ENST00000546834.1_Intron	p.T633A	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	7	2588	+	all_cancers(95;4.69e-05)		633			Pro-rich.		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	c.1897A>G	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	A	0.910	-0.719237	0.03182	.	.	ENSG00000197324	ENST00000359591	D	0.92149	-2.98	3.79	-3.08	0.05347	.	1.148280	0.06358	N	0.711197	D	0.83982	0.5372	L	0.36672	1.1	0.32362	N	0.557084	B	0.02656	0.0	B	0.01281	0.0	T	0.69117	-0.5230	10	0.38643	T	0.18	-1.2226	0.987	0.01448	0.328:0.1925:0.3198:0.1597	.	633	Q7Z4F1	LRP10_HUMAN	A	633	ENSP00000352601:T633A	ENSP00000352601:T633A	T	+	1	0	LRP10	22416331	0.001000	0.12720	0.000000	0.03702	0.128000	0.20619	-0.631000	0.05496	-0.575000	0.05982	-0.464000	0.05259	ACT		0.672	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			31	108	0	0	0	1	0	31	108				
HIVEP3	59269	broad.mit.edu	37	1	41990468	41990468	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr1:41990468C>A	ENST00000372583.1	-	6	6206	c.5321G>T	c.(5320-5322)cGc>cTc	p.R1774L	HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1774L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1774L|HIVEP3_ENST00000372584.1_Missense_Mutation_p.R1774L|HIVEP3_ENST00000460604.1_Intron	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1774	ZAS2.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGTGTGGGTGCGGATGTGTTT	0.537																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(5320-5322)cGc>cTc		human immunodeficiency virus type I enhancer binding protein 3							168.0	131.0	144.0					1																	41990468		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41990468C>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.5321G>T	1.37:g.41990468C>A	ENSP00000361664:p.Arg1774Leu					HIVEP3_ENST00000372583.1_Missense_Mutation_p.R1774L|HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1774L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1774L	p.R1774L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			5	6335	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1774			ZAS2.		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.5321G>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	32	5.138589	0.94560	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000105	T	0.46483	0.1395	L	0.45470	1.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.42882	-0.9425	10	0.87932	D	0	-19.5511	18.0873	0.89462	0.0:1.0:0.0:0.0	.	1774;1774	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	L	1774	ENSP00000361665:R1774L;ENSP00000361664:R1774L;ENSP00000247584:R1774L;ENSP00000410828:R1774L	ENSP00000247584:R1774L	R	-	2	0	HIVEP3	41763055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.828000	0.69307	2.596000	0.87737	0.561000	0.74099	CGC		0.537	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		3	73	1	0	0.004672	1	0.004672	3	73				
ZCCHC12	170261	broad.mit.edu	37	X	117960276	117960276	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chrX:117960276A>G	ENST00000310164.2	+	4	1576	c.1069A>G	c.(1069-1071)Aaa>Gaa	p.K357E		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	357					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						AGGCCACTCAAAAGAAACCTG	0.488																																						ENST00000310164.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(1069-1071)Aaa>Gaa		zinc finger, CCHC domain containing 12							101.0	83.0	89.0					X																	117960276		2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117960276A>G	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.1069A>G	X.37:g.117960276A>G	ENSP00000308921:p.Lys357Glu						p.K357E	NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN			4	1576	+			357					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.1069A>G	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	A	11.39	1.624759	0.28889	.	.	ENSG00000174460	ENST00000310164	T	0.76709	-1.04	3.3	3.3	0.37823	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (1);	0.000000	0.34750	N	0.003706	D	0.85084	0.5616	M	0.78223	2.4	0.27398	N	0.954925	D	0.67145	0.996	D	0.77557	0.99	T	0.76302	-0.3009	10	0.72032	D	0.01	-21.5161	7.2933	0.26378	1.0:0.0:0.0:0.0	.	357	Q6PEW1	ZCH12_HUMAN	E	357	ENSP00000308921:K357E	ENSP00000308921:K357E	K	+	1	0	ZCCHC12	117844304	0.568000	0.26635	0.962000	0.40283	0.004000	0.04260	0.856000	0.27818	1.530000	0.49136	0.486000	0.48141	AAA		0.488	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		3	37	0	0	0	1	0	3	37				
PRX	57716	broad.mit.edu	37	19	40903766	40903766	+	Missense_Mutation	SNP	G	G	A	rs555499679	byFrequency	TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr19:40903766G>A	ENST00000324001.7	-	7	763	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	165	Arg/Lys-rich (basic).				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)			CGACGCAGGCGGGAGAACTTG	0.662													G|||	7	0.00139776	0.0	0.0	5008	,	,		14547	0.0		0.0	False		,,,				2504	0.0072					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.(493-495)Cgc>Tgc		periaxin							12.0	15.0	14.0					19																	40903766		2196	4299	6495	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40903766G>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.493C>T	19.37:g.40903766G>A	ENSP00000326018:p.Arg165Cys					PRX_ENST00000291825.7_3'UTR	p.R165C	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	763	-			165			Arg/Lys-rich (basic).		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.493C>T	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423573	0.62733	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02369	4.32	4.71	3.63	0.41609	.	0.336467	0.20473	N	0.091651	T	0.06325	0.0163	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.43556	-0.9384	10	0.49607	T	0.09	-2.1534	9.435	0.38632	0.0:0.0:0.7162:0.2838	.	165	Q9BXM0	PRAX_HUMAN	C	165	ENSP00000326018:R165C	ENSP00000326018:R165C	R	-	1	0	PRX	45595606	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.139000	0.42149	2.437000	0.82529	0.591000	0.81541	CGC		0.662	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		4	12	0	0	0	1	0	4	12				
PCSK2	5126	broad.mit.edu	37	20	17462502	17462502	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr20:17462502G>A	ENST00000262545.2	+	12	2019	c.1704G>A	c.(1702-1704)tgG>tgA	p.W568*	PCSK2_ENST00000536609.1_Nonsense_Mutation_p.W533*|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Nonsense_Mutation_p.W549*	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	568					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GAGGCACCTGGACCCTGGAGC	0.632																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1702-1704)tgG>tgA		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						43.0	44.0	44.0					20																	17462502		2203	4300	6503	SO:0001587	stop_gained	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17462502G>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1704G>A	20.37:g.17462502G>A	ENSP00000262545:p.Trp568*					PCSK2_ENST00000536609.1_Nonsense_Mutation_p.W533*|PCSK2_ENST00000377899.1_Nonsense_Mutation_p.W549*|PCSK2_ENST00000459871.1_3'UTR	p.W568*	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			12	2019	+			568					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Nonsense_Mutation	SNP	ENST00000262545.2	37	c.1704G>A	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	41	8.878231	0.98988	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.188	18.6061	0.91266	0.0:0.0:1.0:0.0	.	.	.	.	X	549;568;533	.	ENSP00000262545:W568X	W	+	3	0	PCSK2	17410502	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.773000	0.98989	2.803000	0.96430	0.585000	0.79938	TGG		0.632	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		12	30	0	0	0	1	0	12	30				
OR7G1	125962	broad.mit.edu	37	19	9226075	9226075	+	Missense_Mutation	SNP	C	C	T	rs140073167	byFrequency	TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr19:9226075C>T	ENST00000541538.1	-	1	364	c.365G>A	c.(364-366)cGc>cAc	p.R122H	OR7G1_ENST00000293614.1_Missense_Mutation_p.R122H	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						GGCCACATAGCGGTCGTAGGC	0.483													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19063	0.0		0.0	False		,,,				2504	0.001					ENST00000293614.1																			1	Substitution - Missense(1)	p.R122H(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						c.(364-366)cGc>cAc		olfactory receptor, family 7, subfamily G, member 1		C	HIS/ARG	3,4403	8.1+/-20.4	0,3,2200	121.0	120.0	120.0		365	2.7	0.4	19	dbSNP_134	120	0,8600		0,0,4300	yes	missense	OR7G1	NM_001005192.2	29	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	possibly-damaging	122/312	9226075	3,13003	2203	4300	6503	SO:0001583	missense	125962				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9226075C>T		CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"""GPCR / Class A : Olfactory receptors"""	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.365G>A	19.37:g.9226075C>T	ENSP00000444134:p.Arg122His					OR7G1_ENST00000541538.1_Missense_Mutation_p.R122H	p.R122H			Q8NGA0	OR7G1_HUMAN			1	364	-			122					Q6IFJ5|Q96RA1	Missense_Mutation	SNP	ENST00000541538.1	37	c.365G>A	CCDS32898.2	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	c	12.65	2.000534	0.35320	6.81E-4	0.0	ENSG00000161807	ENST00000293614;ENST00000541538	T;T	0.77489	-1.1;-1.1	3.78	2.71	0.32032	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39146	U	0.001442	T	0.81259	0.4785	M	0.93328	3.405	0.27687	N	0.946241	B	0.31256	0.316	B	0.26969	0.075	T	0.77443	-0.2586	10	0.72032	D	0.01	.	12.6859	0.56948	0.0:0.8313:0.1687:0.0	.	122	Q8NGA0	OR7G1_HUMAN	H	122	ENSP00000293614:R122H;ENSP00000444134:R122H	ENSP00000293614:R122H	R	-	2	0	OR7G1	9087075	0.966000	0.33281	0.374000	0.26016	0.265000	0.26407	5.008000	0.63991	0.903000	0.36546	0.501000	0.49751	CGC		0.483	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397912.1			14	70	0	0	0	1	0	14	70				
CCSER1	401145	broad.mit.edu	37	4	91230726	91230726	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr4:91230726A>G	ENST00000509176.1	+	2	1579	c.1291A>G	c.(1291-1293)Aca>Gca	p.T431A	CCSER1_ENST00000333691.8_Missense_Mutation_p.T431A|CCSER1_ENST00000432775.2_Missense_Mutation_p.T431A	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	431																	TTTTAACAAAACATCACATGG	0.299																																						ENST00000509176.1																			0											c.(1291-1293)Aca>Gca		coiled-coil serine-rich protein 1							51.0	50.0	50.0					4																	91230726		1829	4080	5909	SO:0001583	missense	401145							g.chr4:91230726A>G		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1291A>G	4.37:g.91230726A>G	ENSP00000425040:p.Thr431Ala					CCSER1_ENST00000432775.2_Missense_Mutation_p.T431A|CCSER1_ENST00000333691.8_Missense_Mutation_p.T431A	p.T431A	NM_001145065.1	NP_001138537.1					2	1579	+								Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.1291A>G	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	A	8.244	0.807493	0.16467	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.44482	1.46;0.92;1.46	4.96	0.0615	0.14341	.	0.667620	0.15627	N	0.252573	T	0.27900	0.0687	L	0.29908	0.895	0.24888	N	0.992181	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.12156	0.001;0.007;0.002	T	0.19484	-1.0304	10	0.35671	T	0.21	-5.0723	9.5223	0.39143	0.6362:0.0:0.3638:0.0	.	431;431;431	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	A	431	ENSP00000425040:T431A;ENSP00000389283:T431A;ENSP00000329482:T431A	ENSP00000329482:T431A	T	+	1	0	FAM190A	91449749	0.626000	0.27120	0.618000	0.29105	0.793000	0.44817	0.325000	0.19628	0.120000	0.18254	0.477000	0.44152	ACA		0.299	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		9	38	0	0	0	1	0	9	38				
COL28A1	340267	broad.mit.edu	37	7	7495728	7495728	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr7:7495728C>T	ENST00000399429.3	-	16	1458	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	440					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TGGGGTCCCACAGGTCCTATA	0.428																																						ENST00000399429.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(1318-1320)Gtg>Atg		collagen, type XXVIII, alpha 1							77.0	76.0	76.0					7																	7495728		1824	4081	5905	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7495728C>T	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1318G>A	7.37:g.7495728C>T	ENSP00000382356:p.Val440Met						p.V440M	NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	16	1458	-		Ovarian(82;0.0789)	440					A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.1318G>A	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811189	0.50527	.	.	ENSG00000215018	ENST00000399429;ENST00000399419	D	0.93426	-3.22	4.53	2.72	0.32119	.	0.261045	0.25610	U	0.029491	D	0.82337	0.5015	N	0.11313	0.125	0.23831	N	0.99672	P;B	0.35348	0.496;0.015	B;B	0.31290	0.127;0.008	T	0.75693	-0.3229	10	0.51188	T	0.08	-1.5724	6.5996	0.22693	0.0:0.7882:0.0:0.2118	.	440;440	Q2UY09-2;Q2UY09	.;COSA1_HUMAN	M	440	ENSP00000382356:V440M	ENSP00000382347:V440M	V	-	1	0	COL28A1	7462253	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.197000	0.32211	1.275000	0.44379	0.655000	0.94253	GTG		0.428	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		5	24	0	0	0	1	0	5	24				
RYR2	6262	broad.mit.edu	37	1	237947854	237947854	+	Missense_Mutation	SNP	C	C	T	rs201829896		TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr1:237947854C>T	ENST00000366574.2	+	90	13159	c.12842C>T	c.(12841-12843)aCg>aTg	p.T4281M	RYR2_ENST00000360064.6_Missense_Mutation_p.T4287M|RYR2_ENST00000542537.1_Missense_Mutation_p.T4265M|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4281					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACATGGTCACGGCCTTCTTT	0.458																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(12841-12843)aCg>aTg		ryanodine receptor 2 (cardiac)		C	MET/THR	4,3768		0,4,1882	77.0	75.0	75.0		12842	-0.4	0.0	1		75	0,8252		0,0,4126	yes	missense	RYR2	NM_001035.2	81	0,4,6008	TT,TC,CC		0.0,0.106,0.0333	benign	4281/4968	237947854	4,12020	1886	4126	6012	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947854C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12842C>T	1.37:g.237947854C>T	ENSP00000355533:p.Thr4281Met					RYR2_ENST00000360064.6_Missense_Mutation_p.T4287M|RYR2_ENST00000542537.1_Missense_Mutation_p.T4265M	p.T4281M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	13159	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4281					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12842C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	6.567	0.472982	0.12461	0.00106	0.0	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96587	-4.06;-4.03;-4.05	5.11	-0.374	0.12512	.	0.740503	0.11596	N	0.548213	D	0.89536	0.6743	N	0.11756	0.17	0.09310	N	1	B;B	0.15141	0.012;0.001	B;B	0.13407	0.009;0.001	T	0.80643	-0.1291	10	0.41790	T	0.15	.	8.2903	0.31954	0.0:0.3438:0.0:0.6562	.	1255;4281	B4DGV4;Q92736	.;RYR2_HUMAN	M	4281;4287;4265;1255	ENSP00000355533:T4281M;ENSP00000353174:T4287M;ENSP00000443798:T4265M	ENSP00000353174:T4287M	T	+	2	0	RYR2	236014477	0.098000	0.21812	0.010000	0.14722	0.887000	0.51463	0.513000	0.22770	0.054000	0.16065	0.655000	0.94253	ACG		0.458	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	35	0	0	0	1	0	6	35				
DNAH11	8701	broad.mit.edu	37	7	21640404	21640404	+	Silent	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr7:21640404C>T	ENST00000409508.3	+	16	3142	c.3111C>T	c.(3109-3111)caC>caT	p.H1037H	DNAH11_ENST00000328843.6_Silent_p.H1037H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1037	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGGAGACCCACACTTACCTCT	0.453									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(3109-3111)caC>caT		dynein, axonemal, heavy chain 11							188.0	185.0	186.0					7																	21640404		1984	4168	6152	SO:0001819	synonymous_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21640404C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3111C>T	7.37:g.21640404C>T						DNAH11_ENST00000409508.3_Silent_p.H1037H	p.H1037H			Q96DT5	DYH11_HUMAN			16	3142	+			1037			Stem (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.3111C>T																																																																																					0.453	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		27	171	0	0	0	1	0	27	171				
FBN2	2201	broad.mit.edu	37	5	127641280	127641280	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr5:127641280T>A	ENST00000508053.1	-	50	6571	c.5597A>T	c.(5596-5598)gAc>gTc	p.D1866V	FBN2_ENST00000262464.4_Missense_Mutation_p.D1866V			P35556	FBN2_HUMAN	fibrillin 2	1866	EGF-like 30; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATTGATGCAGTCTGCATTCCG	0.438																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(5596-5598)gAc>gTc		fibrillin 2							107.0	104.0	105.0					5																	127641280		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127641280T>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5597A>T	5.37:g.127641280T>A	ENSP00000424571:p.Asp1866Val					FBN2_ENST00000262464.4_Missense_Mutation_p.D1866V	p.D1866V			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	50	6571	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1866			EGF-like 30; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.5597A>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.119266	0.56505	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.91521	-2.86;-2.86	5.35	5.35	0.76521	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.087525	0.49916	D	0.000136	D	0.84302	0.5442	N	0.01515	-0.825	0.80722	D	1	D	0.58970	0.984	P	0.57679	0.825	D	0.85812	0.1380	10	0.23891	T	0.37	.	15.79	0.78350	0.0:0.0:0.0:1.0	.	1866	P35556	FBN2_HUMAN	V	1866	ENSP00000262464:D1866V;ENSP00000424571:D1866V	ENSP00000262464:D1866V	D	-	2	0	FBN2	127669179	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.538000	0.60650	2.371000	0.80710	0.533000	0.62120	GAC		0.438	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		4	67	0	0	0	1	0	4	67				
SULT1B1	27284	broad.mit.edu	37	4	70620861	70620861	+	Silent	SNP	T	T	C			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr4:70620861T>C	ENST00000310613.3	-	2	372	c.75A>G	c.(73-75)gcA>gcG	p.A25A		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	25					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CCCAGTTGCTTGCAAAAGCAC	0.388																																						ENST00000310613.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(73-75)gcA>gcG		sulfotransferase family, cytosolic, 1B, member 1							144.0	140.0	142.0					4																	70620861		2203	4300	6503	SO:0001819	synonymous_variant	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70620861T>C	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.75A>G	4.37:g.70620861T>C							p.A25A	NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN			2	372	-			25					O15497|Q96FI1|Q9UK34	Silent	SNP	ENST00000310613.3	37	c.75A>G	CCDS3530.1																																																																																				0.388	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		23	95	0	0	0	1	0	23	95				
DCAF12L2	340578	broad.mit.edu	37	X	125299212	125299212	+	Silent	SNP	G	G	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chrX:125299212G>T	ENST00000360028.2	-	1	722	c.696C>A	c.(694-696)gcC>gcA	p.A232A	DCAF12L2_ENST00000538699.1_Silent_p.A232A			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	232										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CGCTGTGCCAGGCAATGCTGC	0.637																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(694-696)gcC>gcA		DDB1 and CUL4 associated factor 12-like 2							29.0	32.0	31.0					X																	125299212		2203	4298	6501	SO:0001819	synonymous_variant	340578							g.chrX:125299212G>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.696C>A	X.37:g.125299212G>T						DCAF12L2_ENST00000360028.2_Silent_p.A232A	p.A232A	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	776	-			232					B2RN42	Silent	SNP	ENST00000360028.2	37	c.696C>A	CCDS43991.1																																																																																				0.637	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		14	20	1	0	3.27435e-08	1	3.49634e-08	14	20				
SLCO4C1	353189	broad.mit.edu	37	5	101631621	101631621	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr5:101631621C>T	ENST00000310954.6	-	1	632	c.346G>A	c.(346-348)Gtc>Atc	p.V116I		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CCTTGCGTGACGGCCAAGAGG	0.642																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(346-348)Gtc>Atc		solute carrier organic anion transporter family, member 4C1							41.0	41.0	41.0					5																	101631621		2203	4300	6503	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101631621C>T	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.346G>A	5.37:g.101631621C>T	ENSP00000309741:p.Val116Ile						p.V116I	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	1	632	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	116						Missense_Mutation	SNP	ENST00000310954.6	37	c.346G>A	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	8.128	0.782370	0.16189	.	.	ENSG00000173930	ENST00000310954	T	0.38240	1.15	4.02	2.14	0.27477	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.751360	0.11624	N	0.545538	T	0.21801	0.0525	N	0.21373	0.66	0.21445	N	0.999687	B	0.20671	0.047	B	0.17979	0.02	T	0.28038	-1.0056	10	0.14252	T	0.57	.	8.7594	0.34665	0.0:0.487:0.3604:0.1525	.	116	Q6ZQN7	SO4C1_HUMAN	I	116	ENSP00000309741:V116I	ENSP00000309741:V116I	V	-	1	0	SLCO4C1	101659520	0.011000	0.17503	0.986000	0.45419	0.282000	0.26991	-0.059000	0.11731	0.407000	0.25591	-0.340000	0.08031	GTC		0.642	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		5	18	0	0	0	1	0	5	18				
INSIG2	51141	broad.mit.edu	37	2	118854303	118854303	+	Silent	SNP	C	C	T	rs138954785		TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr2:118854303C>T	ENST00000245787.4	+	2	377	c.171C>T	c.(169-171)ctC>ctT	p.L57L	INSIG2_ENST00000485520.1_Intron	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	57					cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						ATGTGACGCTCTTTCCACCTG	0.413																																						ENST00000245787.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						c.(169-171)ctC>ctT		insulin induced gene 2							176.0	161.0	166.0					2																	118854303		2203	4300	6503	SO:0001819	synonymous_variant	51141				ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex		g.chr2:118854303C>T	AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.171C>T	2.37:g.118854303C>T						INSIG2_ENST00000485520.1_Intron	p.L57L	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN			2	377	+			57					A8K5W8|Q8TBI8	Silent	SNP	ENST00000245787.4	37	c.171C>T	CCDS2122.1																																																																																				0.413	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129624.1	NM_016133		4	99	0	0	0	1	0	4	99				
GPIHBP1	338328	broad.mit.edu	37	8	144297321	144297321	+	Silent	SNP	C	C	T	rs370155321		TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr8:144297321C>T	ENST00000330824.2	+	4	558	c.483C>T	c.(481-483)tcC>tcT	p.S161S		NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	161					cholesterol homeostasis (GO:0042632)|intracellular protein transport (GO:0006886)|positive regulation of chylomicron remnant clearance (GO:0090321)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein import (GO:0017038)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|protein transmembrane transport (GO:0071806)|response to heparin (GO:0071503)|transcytosis (GO:0045056)|triglyceride homeostasis (GO:0070328)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|external side of plasma membrane (GO:0009897)|high-density lipoprotein particle (GO:0034364)	chylomicron binding (GO:0035478)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|protein transmembrane transporter activity (GO:0008320)			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGGGCAGCTCCGAAACTGTGG	0.701													C|||	1	0.000199681	0.0	0.0014	5008	,	,		11374	0.0		0.0	False		,,,				2504	0.0					ENST00000330824.2																			0				lung(2)	2						c.(481-483)tcC>tcT		glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1		C		0,4404		0,0,2202	29.0	33.0	32.0		483	-3.3	0.0	8		32	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	GPIHBP1	NM_178172.3		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		161/185	144297321	1,12995	2202	4296	6498	SO:0001819	synonymous_variant	338328				cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity	g.chr8:144297321C>T	AF088057	CCDS34954.1	8q24.3	2014-07-14	2008-02-07						24945	protein-coding gene	gene with protein product	"""endothelial cell LPL transporter"""	612757	"""GPI anchored high density lipoprotein binding protein 1"""			12496272, 17883852, 17620854, 17403372	Standard	NM_178172		Approved	LOC338328, GPI-HBP1	uc003yxu.2	Q8IV16		ENST00000330824.2:c.483C>T	8.37:g.144297321C>T							p.S161S	NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN			4	558	+	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		161					Q6P3T2|Q86W15	Silent	SNP	ENST00000330824.2	37	c.483C>T	CCDS34954.1																																																																																				0.701	GPIHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381113.1	NM_178172		10	29	0	0	0	1	0	10	29				
ZDBF2	57683	broad.mit.edu	37	2	207169615	207169615	+	Silent	SNP	T	T	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr2:207169615T>A	ENST00000374423.3	+	5	749	c.363T>A	c.(361-363)ccT>ccA	p.P121P		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	121							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTCCAGACCTCATAAATCTC	0.453																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(361-363)ccT>ccA		zinc finger, DBF-type containing 2							70.0	66.0	67.0					2																	207169615		1918	4123	6041	SO:0001819	synonymous_variant	57683						nucleic acid binding|zinc ion binding	g.chr2:207169615T>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.363T>A	2.37:g.207169615T>A							p.P121P	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	749	+			121					Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	c.363T>A	CCDS46501.1																																																																																				0.453	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		3	23	0	0	0	1	0	3	23				
MMP10	4319	broad.mit.edu	37	11	102647101	102647101	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr11:102647101G>A	ENST00000279441.4	-	6	878	c.842C>T	c.(841-843)tCg>tTg	p.S281L		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	281					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	CTCAGATCCCGAAGGAACAGA	0.478																																						ENST00000279441.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22						c.(841-843)tCg>tTg		matrix metallopeptidase 10 (stromelysin 2)							89.0	85.0	86.0					11																	102647101		2203	4299	6502	SO:0001583	missense	4319				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102647101G>A	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.842C>T	11.37:g.102647101G>A	ENSP00000279441:p.Ser281Leu						p.S281L	NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	6	878	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	281					B2R9X9|Q53HH9	Missense_Mutation	SNP	ENST00000279441.4	37	c.842C>T	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	G	8.540	0.873062	0.17322	.	.	ENSG00000166670	ENST00000279441	T	0.13196	2.61	4.26	1.34	0.21922	.	1.849060	0.03184	N	0.172403	T	0.08313	0.0207	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.33445	-0.9868	10	0.27785	T	0.31	.	8.0374	0.30502	0.2608:0.0:0.7392:0.0	.	281	P09238	MMP10_HUMAN	L	281	ENSP00000279441:S281L	ENSP00000279441:S281L	S	-	2	0	MMP10	102152311	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.454000	0.21827	0.179000	0.19938	0.644000	0.83932	TCG		0.478	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1			16	59	0	0	0	1	0	16	59				
C2orf78	388960	broad.mit.edu	37	2	74042529	74042529	+	Silent	SNP	C	C	T	rs143445466		TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr2:74042529C>T	ENST00000409561.1	+	3	1300	c.1179C>T	c.(1177-1179)ccC>ccT	p.P393P		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	393										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TAGAAATCCCCGATATTCACC	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		19763	0.001		0.0	False		,,,				2504	0.0					ENST00000409561.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						c.(1177-1179)ccC>ccT		chromosome 2 open reading frame 78							36.0	35.0	35.0					2																	74042529		1839	4089	5928	SO:0001819	synonymous_variant	388960							g.chr2:74042529C>T	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1179C>T	2.37:g.74042529C>T							p.P393P	NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN			3	1300	+			393						Silent	SNP	ENST00000409561.1	37	c.1179C>T	CCDS46338.1																																																																																				0.448	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		7	33	0	0	0	1	0	7	33				
KIAA1549L	25758	broad.mit.edu	37	11	33564344	33564344	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr11:33564344C>T	ENST00000321505.4	+	1	524	c.344C>T	c.(343-345)gCg>gTg	p.A115V	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A115V|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A115V			Q6ZVL6	K154L_HUMAN	KIAA1549-like	115						integral component of membrane (GO:0016021)											ACAGAAACAGCGACCCATGAG	0.522											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321505.4																			0											c.(343-345)gCg>gTg		KIAA1549-like							36.0	37.0	37.0					11																	33564344		1892	4112	6004	SO:0001583	missense	25758							g.chr11:33564344C>T	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.344C>T	11.37:g.33564344C>T	ENSP00000315295:p.Ala115Val		OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A115V|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A115V	p.A115V							1	524	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.344C>T	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485081	0.26598	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654	.	.	.	5.08	0.143	0.14820	.	.	.	.	.	T	0.17534	0.0421	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.17465	0.003;0.022	B;B	0.12156	0.002;0.007	T	0.23190	-1.0195	8	0.23891	T	0.37	.	1.4825	0.02440	0.2271:0.4301:0.122:0.2208	.	115;115	E9PAT2;Q6ZVL6-2	.;.	V	115	.	ENSP00000265654:A115V	A	+	2	0	C11orf41	33520920	0.000000	0.05858	0.007000	0.13788	0.363000	0.29612	-1.253000	0.02877	0.094000	0.17404	0.561000	0.74099	GCG		0.522	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		5	21	0	0	0	1	0	5	21				
SVEP1	79987	broad.mit.edu	37	9	113141771	113141771	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr9:113141771C>T	ENST00000401783.2	-	44	10600	c.10264G>A	c.(10264-10266)Gta>Ata	p.V3422I	SVEP1_ENST00000374469.1_Missense_Mutation_p.V3399I|SVEP1_ENST00000297826.5_Missense_Mutation_p.V1348I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3422	Sushi 34. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCATTTTCTACGTGAGCTGGT	0.413																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(10264-10266)Gta>Ata		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							84.0	75.0	78.0					9																	113141771		1935	4140	6075	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113141771C>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.10264G>A	9.37:g.113141771C>T	ENSP00000384917:p.Val3422Ile					SVEP1_ENST00000297826.5_Missense_Mutation_p.V1348I|SVEP1_ENST00000374469.1_Missense_Mutation_p.V3399I	p.V3422I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			44	10600	-			3422			Sushi 34.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.10264G>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	5.419	0.262528	0.10294	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.63580	-0.05;-0.05;-0.05	5.87	3.05	0.35203	Complement control module (2);Sushi/SCR/CCP (3);	0.311416	0.35903	N	0.002908	T	0.34164	0.0888	N	0.04994	-0.135	0.80722	D	1	B	0.28470	0.213	B	0.23018	0.043	T	0.07927	-1.0747	10	0.18276	T	0.48	.	9.0913	0.36612	0.0:0.6566:0.0:0.3434	.	3422	Q4LDE5	SVEP1_HUMAN	I	3422;3399;1348	ENSP00000384917:V3422I;ENSP00000363593:V3399I;ENSP00000297826:V1348I	ENSP00000297826:V1348I	V	-	1	0	SVEP1	112181592	0.142000	0.22610	0.113000	0.21522	0.410000	0.31052	0.699000	0.25586	0.833000	0.34828	0.655000	0.94253	GTA		0.413	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				8	23	0	0	0	1	0	8	23				
SSX6	280657	broad.mit.edu	37	X	47978955	47978955	+	RNA	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chrX:47978955G>A	ENST00000509958.1	+	0	104							Q7RTT6	SSX6_HUMAN	synovial sarcoma, X breakpoint 6 (pseudogene)						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						CACAGACTGCGTGAGAGAAAG	0.512																																						ENST00000319275.3																			0				large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						c.(211-213)cGt>cAt									232.0	224.0	227.0					X																	47978955		2198	4289	6487			0							g.chrX:47978955G>A	BK000686		Xp11.23	2009-09-11	2009-08-26		ENSG00000171483	ENSG00000171483			19652	pseudogene	pseudogene		300541	"""SSX family pseudogene 2"", ""synovial sarcoma, X breakpoint 6"""	SSXP2		12216073	Standard	NR_028366		Approved	psiSSX2	uc011mlv.2	Q7RTT6	OTTHUMG00000021464		X.37:g.47978955G>A						SSX6_ENST00000376932.2_Missense_Mutation_p.R169H	p.R71H							7	578	+									Missense_Mutation	SNP	ENST00000509958.1	37	c.212G>A		.	.	.	.	.	.	.	.	.	.	.	9.508	1.104938	0.20632	.	.	ENSG00000171483	ENST00000376932;ENST00000319275	T;T	0.69806	1.63;-0.43	2.11	1.23	0.21249	SSXRD motif (1);	0.198740	0.24965	N	0.034189	T	0.59905	0.2228	.	.	.	0.09310	N	1	P	0.47191	0.891	P	0.47376	0.545	T	0.53500	-0.8430	9	0.62326	D	0.03	.	4.2131	0.10521	0.2141:0.0:0.7859:0.0	.	169	Q7RTT6	SSX6_HUMAN	H	169;71	ENSP00000366131:R169H;ENSP00000325176:R71H	ENSP00000325176:R71H	R	+	2	0	SSX6	47863899	0.058000	0.20735	0.001000	0.08648	0.097000	0.18754	1.131000	0.31406	0.354000	0.24105	0.279000	0.19357	CGT		0.512	SSX6-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000362117.1	NR_028366		66	90	0	0	0	1	0	66	90				
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	lincRNA	SNP	C	C	G	rs56290535	byFrequency	TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr15:78208916C>G	ENST00000565869.1	+	0	53				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TCCAGATGTTCTCCTCCATCT	0.627													C|||	476	0.0950479	0.0998	0.1023	5008	,	,		17114	0.0675		0.1054	False		,,,				2504	0.1012					ENST00000565869.1																			0																																																			0							g.chr15:78208916C>G																													15.37:g.78208916C>G														0	53	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.627	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	71	0	0	0	1	0	4	71				
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs369119448|rs112443847		TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2605G|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716																																						ENST00000268489.5																			3	Substitution - coding silent(3)	p.G3519G(3)	lung(2)|prostate(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10555-10557)ggT>ggC		zinc finger homeobox 3							9.0	13.0	11.0					16																	72821618		1463	3169	4632	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821618A>G	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10557T>C	16.37:g.72821618A>G						AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2605G	p.G3519G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11229	-		Ovarian(137;0.13)	3519			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10557T>C	CCDS10908.1																																																																																				0.716	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		3	24	0	0	0	1	0	3	24				
TP63	8626	broad.mit.edu	37	3	189586471	189586471	+	Silent	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr3:189586471G>A	ENST00000264731.3	+	8	1184	c.1095G>A	c.(1093-1095)tcG>tcA	p.S365S	TP63_ENST00000392460.3_Silent_p.S365S|TP63_ENST00000392463.2_Silent_p.S271S|TP63_ENST00000437221.1_Silent_p.S271S|TP63_ENST00000392461.3_Silent_p.S271S|TP63_ENST00000354600.5_Silent_p.S271S|TP63_ENST00000449992.1_Silent_p.S186S|TP63_ENST00000382063.4_Silent_p.S280S|TP63_ENST00000440651.2_Silent_p.S365S|TP63_ENST00000418709.2_Silent_p.S365S|TP63_ENST00000320472.5_Silent_p.S365S|TP63_ENST00000456148.1_Silent_p.S271S	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	365	Interaction with HIPK2.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGCAAGTTTCGGACAGTACAA	0.532										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(1093-1095)tcG>tcA		tumor protein p63							131.0	123.0	126.0					3																	189586471		2203	4300	6503	SO:0001819	synonymous_variant	8626				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189586471G>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1095G>A	3.37:g.189586471G>A		HNSCC(45;0.13)				TP63_ENST00000449992.1_Silent_p.S186S|TP63_ENST00000456148.1_Silent_p.S271S|TP63_ENST00000418709.2_Silent_p.S365S|TP63_ENST00000440651.2_Silent_p.S365S|TP63_ENST00000392461.3_Silent_p.S271S|TP63_ENST00000382063.4_Silent_p.S280S|TP63_ENST00000392460.3_Silent_p.S365S|TP63_ENST00000437221.1_Silent_p.S271S|TP63_ENST00000354600.5_Silent_p.S271S|TP63_ENST00000392463.2_Silent_p.S271S|TP63_ENST00000320472.5_Silent_p.S365S	p.S365S	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	8	1184	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		365			Interaction with HIPK2.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	ENST00000264731.3	37	c.1095G>A	CCDS3293.1																																																																																				0.532	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		16	59	0	0	0	1	0	16	59				
NLE1	54475	broad.mit.edu	37	17	33464147	33464147	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr17:33464147G>T	ENST00000442241.4	-	7	740	c.701C>A	c.(700-702)aCt>aAt	p.T234N	NLE1_ENST00000360831.5_Missense_Mutation_p.T192N|NLE1_ENST00000586869.1_De_novo_Start_OutOfFrame|NLE1_ENST00000593176.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	234					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				GCGGCCTGCAGTTGTGTCCCA	0.637																																						ENST00000586869.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22								notchless homolog 1 (Drosophila)							69.0	61.0	64.0					17																	33464147		2203	4300	6503	SO:0001583	missense	54475					nucleolus		g.chr17:33464147G>T		CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"""WD repeat domain containing"""	19889	protein-coding gene	gene with protein product	"""Notchless gene homolog, (Drosophila)"""						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.701C>A	17.37:g.33464147G>T	ENSP00000413572:p.Thr234Asn					NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000360831.5_Missense_Mutation_p.T192N|NLE1_ENST00000442241.4_Missense_Mutation_p.T234N				Q9NVX2	NLE1_HUMAN			0	844	-		Ovarian(249;0.17)						O60868|Q59GJ8|Q9BU54	Translation_Start_Site	SNP	ENST00000442241.4	37		CCDS11291.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.932|4.932	0.173159|0.173159	0.09391|0.09391	.|.	.|.	ENSG00000073536|ENSG00000073536	ENST00000436188|ENST00000442241;ENST00000537697	.|T	.|0.28255	.|1.62	4.6|4.6	3.62|3.62	0.41486|0.41486	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.322303	.|0.32640	.|N	.|0.005840	T|T	0.16300|0.16300	0.0392|0.0392	N|N	0.21142|0.21142	0.635|0.635	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.21655|0.21655	-1.0239|-1.0239	5|10	.|0.14252	.|T	.|0.57	-6.0295|-6.0295	6.2888|6.2888	0.21049|0.21049	0.0979:0.1895:0.7125:0.0|0.0979:0.1895:0.7125:0.0	.|.	.|234	.|Q9NVX2	.|NLE1_HUMAN	M|N	14|234;210	.|ENSP00000413572:T234N	.|ENSP00000413572:T234N	L|T	-|-	1|2	2|0	NLE1|NLE1	30488260|30488260	0.093000|0.093000	0.21703|0.21703	0.112000|0.112000	0.21494|0.21494	0.995000|0.995000	0.86356|0.86356	3.225000|3.225000	0.51246|0.51246	1.152000|1.152000	0.42452|0.42452	0.655000|0.655000	0.94253|0.94253	CTG|ACT		0.637	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096		8	36	1	0	0.00307968	1	0.00312935	8	36				
SPTA1	6708	broad.mit.edu	37	1	158648254	158648254	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr1:158648254C>T	ENST00000368147.4	-	6	929	c.749G>A	c.(748-750)cGt>cAt	p.R250H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	250					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R250H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCCAAACCACGAAGGCGCTC	0.438																																						ENST00000368148.3																			1	Substitution - Missense(1)	p.R250H(1)	prostate(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(748-750)cGt>cAt		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							101.0	94.0	96.0					1																	158648254		1873	4116	5989	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158648254C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.749G>A	1.37:g.158648254C>T	ENSP00000357129:p.Arg250His					SPTA1_ENST00000368147.3_Missense_Mutation_p.R250H	p.R250H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			6	929	-	all_hematologic(112;0.0378)		250					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.749G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	9.621	1.133833	0.21123	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52526	0.66;0.66	4.66	0.629	0.17687	.	1.398420	0.05344	N	0.530647	T	0.08582	0.0213	N	0.05383	-0.06	0.24646	N	0.993547	B	0.02656	0.0	B	0.04013	0.001	T	0.18398	-1.0338	10	0.25106	T	0.35	.	3.4954	0.07653	0.1633:0.2271:0.0:0.6095	.	250	P02549	SPTA1_HUMAN	H	250	ENSP00000357130:R250H;ENSP00000357129:R250H	ENSP00000357129:R250H	R	-	2	0	SPTA1	156914878	0.986000	0.35501	0.003000	0.11579	0.299000	0.27559	2.102000	0.41796	0.048000	0.15891	-0.300000	0.09419	CGT		0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		17	46	0	0	0	1	0	17	46				
FRAS1	80144	broad.mit.edu	37	4	79432471	79432471	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr4:79432471G>T	ENST00000264895.6	+	64	10264	c.9824G>T	c.(9823-9825)tGt>tTt	p.C3275F		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3271					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CATGTGCGTTGTGTGGCCAAG	0.507																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(9823-9825)tGt>tTt		Fraser syndrome 1							129.0	130.0	130.0					4																	79432471		2108	4234	6342	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79432471G>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9824G>T	4.37:g.79432471G>T	ENSP00000264895:p.Cys3275Phe						p.C3275F	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			64	10264	+			3270					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.9824G>T	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.156932|4.156932	0.78114|0.78114	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.33438|.	1.41|.	5.7|5.7	4.86|4.86	0.63082|0.63082	.|.	0.052982|.	0.85682|.	D|.	0.000000|.	T|T	0.77025|0.77025	0.4070|0.4070	M|M	0.84082|0.84082	2.675|2.675	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.91635|.	0.971;0.999|.	T|T	0.79436|0.79436	-0.1804|-0.1804	10|5	0.87932|.	D|.	0|.	.|.	14.5308|14.5308	0.67923|0.67923	0.0702:0.0:0.9298:0.0|0.0702:0.0:0.9298:0.0	.|.	3274;3275|.	Q86XX4-2;E9PHH6|.	.;.|.	F|F	3275|1503	ENSP00000264895:C3275F|.	ENSP00000264895:C3275F|.	C|L	+|+	2|3	0|2	FRAS1|FRAS1	79651495|79651495	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.989000|0.989000	0.77384|0.77384	9.657000|9.657000	0.98554|0.98554	1.424000|1.424000	0.47217|0.47217	0.467000|0.467000	0.42956|0.42956	TGT|TTG		0.507	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				8	79	1	0	4.68919e-08	1	4.92365e-08	8	79				
SPG11	80208	broad.mit.edu	37	15	44949465	44949465	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr15:44949465C>T	ENST00000261866.7	-	4	713	c.697G>A	c.(697-699)Gta>Ata	p.V233I	SPG11_ENST00000559193.1_Missense_Mutation_p.V233I|SPG11_ENST00000558319.1_Missense_Mutation_p.V233I|SPG11_ENST00000427534.2_Missense_Mutation_p.V233I|SPG11_ENST00000535302.2_Missense_Mutation_p.V233I	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	233					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACATGAGCTACATATGTACCA	0.363																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(697-699)Gta>Ata		spastic paraplegia 11 (autosomal recessive)							105.0	92.0	96.0					15																	44949465		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44949465C>T		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.697G>A	15.37:g.44949465C>T	ENSP00000261866:p.Val233Ile					SPG11_ENST00000558319.1_Missense_Mutation_p.V233I|SPG11_ENST00000535302.2_Missense_Mutation_p.V233I|SPG11_ENST00000559193.1_Missense_Mutation_p.V233I|SPG11_ENST00000427534.2_Missense_Mutation_p.V233I	p.V233I	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	4	713	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	233					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.697G>A	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694574	0.30052	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.29397	1.57;1.57;1.57	5.78	2.82	0.32997	.	0.088379	0.46758	D	0.000269	T	0.23370	0.0565	L	0.46157	1.445	0.20196	N	0.999926	B;B;B;B	0.25955	0.138;0.138;0.112;0.138	B;B;B;B	0.23852	0.027;0.044;0.049;0.027	T	0.16453	-1.0402	10	0.48119	T	0.1	.	6.0482	0.19772	0.0:0.5452:0.2652:0.1896	.	233;233;233;233	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	I	233	ENSP00000261866:V233I;ENSP00000445278:V233I;ENSP00000396110:V233I	ENSP00000261866:V233I	V	-	1	0	SPG11	42736757	0.697000	0.27767	0.655000	0.29622	0.953000	0.61014	1.242000	0.32755	0.806000	0.34183	0.563000	0.77884	GTA		0.363	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			8	32	0	0	0	1	0	8	32				
TXNDC2	84203	broad.mit.edu	37	18	9887569	9887569	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr18:9887569G>A	ENST00000306084.6	+	2	1292	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	TXNDC2_ENST00000357775.5_Missense_Mutation_p.E298K|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	365	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCCCAGAAGAAGCCATCCA	0.567																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(1093-1095)Gaa>Aaa		thioredoxin domain containing 2 (spermatozoa)							144.0	134.0	138.0					18																	9887569		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887569G>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1093G>A	18.37:g.9887569G>A	ENSP00000304908:p.Glu365Lys					TXNDC2_ENST00000357775.4_Missense_Mutation_p.E298K|TXNDC2_ENST00000536353.2_3'UTR	p.E365K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1292	+			365			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.1093G>A	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154390	0.38021	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.16457	2.34;2.34	3.9	-1.83	0.07833	.	.	.	.	.	T	0.10423	0.0255	L	0.29908	0.895	0.09310	N	1	P	0.40282	0.711	B	0.39119	0.291	T	0.25433	-1.0132	8	.	.	.	0.1473	5.3415	0.15986	0.3947:0.1404:0.4649:0.0	.	365	Q86VQ3	TXND2_HUMAN	K	163;298;365;350	ENSP00000350419:E298K;ENSP00000304908:E365K	.	E	+	1	0	TXNDC2	9877569	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.798000	0.00762	-0.364000	0.08088	-0.145000	0.13849	GAA		0.567	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			33	89	0	0	0	1	0	33	89				
PIK3CA	5290	broad.mit.edu	37	3	178947865	178947865	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr3:178947865G>A	ENST00000263967.3	+	19	2897	c.2740G>A	c.(2740-2742)Gga>Aga	p.G914R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	914	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		G -> R (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TTTGGGAATTGGAGATCGTCA	0.358		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		0				NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(2740-2742)Gga>Aga		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							191.0	178.0	182.0					3																	178947865		1904	4128	6032	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178947865G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2740G>A	3.37:g.178947865G>A	ENSP00000263967:p.Gly914Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.G914R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		19	2897	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		914			PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.2740G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	33	5.199459	0.94997	.	.	ENSG00000121879	ENST00000263967	D	0.83755	-1.76	5.61	5.61	0.85477	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.87763	0.6259	L	0.56280	1.765	0.80722	D	1	D	0.54397	0.966	P	0.55999	0.789	D	0.88362	0.2988	10	0.72032	D	0.01	-16.7487	19.6363	0.95735	0.0:0.0:1.0:0.0	.	914	P42336	PK3CA_HUMAN	R	914	ENSP00000263967:G914R	ENSP00000263967:G914R	G	+	1	0	PIK3CA	180430559	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.367000	0.97148	2.648000	0.89879	0.585000	0.79938	GGA		0.358	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			34	133	0	0	0	1	0	34	133				
ITGAX	3687	broad.mit.edu	37	16	31374348	31374348	+	Silent	SNP	C	C	T	rs199963723	byFrequency	TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr16:31374348C>T	ENST00000268296.4	+	13	1573	c.1452C>T	c.(1450-1452)taC>taT	p.Y484Y	ITGAX_ENST00000562522.1_Silent_p.Y484Y	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	484					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCCATTACTACGAGCAGACCC	0.677													C|||	2	0.000399361	0.0	0.0014	5008	,	,		11492	0.0		0.0	False		,,,				2504	0.001					ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(1450-1452)taC>taT		integrin, alpha X (complement component 3 receptor 4 subunit)		C		0,4394		0,0,2197	43.0	49.0	47.0		1452	-7.2	0.5	16		47	2,8592		0,2,4295	no	coding-synonymous	ITGAX	NM_000887.3		0,2,6492	TT,TC,CC		0.0233,0.0,0.0154		484/1164	31374348	2,12986	2197	4297	6494	SO:0001819	synonymous_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31374348C>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1452C>T	16.37:g.31374348C>T						ITGAX_ENST00000562522.1_Silent_p.Y484Y	p.Y484Y	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			13	1573	+			484					Q8IVA6	Silent	SNP	ENST00000268296.4	37	c.1452C>T	CCDS10711.1																																																																																				0.677	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		31	76	0	0	0	1	0	31	76				
PWP2	5822	broad.mit.edu	37	21	45547815	45547815	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr21:45547815C>T	ENST00000291576.7	+	18	2270	c.2143C>T	c.(2143-2145)Cgc>Tgc	p.R715C	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	715					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TTTCCCAGGGCGCTGCTGGGC	0.478																																						ENST00000291576.7																			0				cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21						c.(2143-2145)Cgc>Tgc		PWP2 periodic tryptophan protein homolog (yeast)							31.0	33.0	32.0					21																	45547815		2202	4300	6502	SO:0001583	missense	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45547815C>T		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.2143C>T	21.37:g.45547815C>T	ENSP00000291576:p.Arg715Cys					PWP2_ENST00000494310.1_3'UTR	p.R715C	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	18	2270	+			715					B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	37	c.2143C>T	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049479	0.75846	.	.	ENSG00000241945	ENST00000291576	T	0.62788	0.0	4.56	2.74	0.32292	WD40/YVTN repeat-like-containing domain (1);	0.105649	0.64402	D	0.000003	T	0.72953	0.3525	M	0.89414	3.03	0.58432	D	0.999999	D	0.76494	0.999	P	0.52627	0.704	T	0.76016	-0.3113	10	0.87932	D	0	-19.3044	9.3571	0.38173	0.0:0.8307:0.0:0.1693	.	715	Q15269	PWP2_HUMAN	C	715	ENSP00000291576:R715C	ENSP00000291576:R715C	R	+	1	0	PWP2	44372243	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.271000	0.65553	0.625000	0.30304	0.655000	0.94253	CGC		0.478	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		12	37	0	0	0	1	0	12	37				
KAT6A	7994	broad.mit.edu	37	8	41791277	41791277	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr8:41791277C>A	ENST00000396930.3	-	18	5004	c.4461G>T	c.(4459-4461)caG>caT	p.Q1487H	KAT6A_ENST00000265713.2_Missense_Mutation_p.Q1487H|KAT6A_ENST00000406337.1_Missense_Mutation_p.Q1487H	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1487					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TGGGGTGAGACTGAACGGAGG	0.567																																						ENST00000396930.3																			0											c.(4459-4461)caG>caT		K(lysine) acetyltransferase 6A							131.0	105.0	114.0					8																	41791277		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41791277C>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.4461G>T	8.37:g.41791277C>A	ENSP00000380136:p.Gln1487His					KAT6A_ENST00000406337.1_Missense_Mutation_p.Q1487H|KAT6A_ENST00000265713.2_Missense_Mutation_p.Q1487H	p.Q1487H	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5004	-			1487					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.4461G>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	9.933	1.215341	0.22373	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.58358	0.34;0.34;0.34	6.06	3.26	0.37387	.	0.220209	0.41097	N	0.000948	T	0.24699	0.0599	N	0.02916	-0.46	0.23440	N	0.997672	B	0.22909	0.077	B	0.27262	0.078	T	0.13202	-1.0518	10	0.39692	T	0.17	-5.9629	4.3743	0.11263	0.1296:0.6129:0.125:0.1325	.	1487	Q92794	KAT6A_HUMAN	H	1487	ENSP00000265713:Q1487H;ENSP00000385888:Q1487H;ENSP00000380136:Q1487H	ENSP00000265713:Q1487H	Q	-	3	2	KAT6A	41910434	0.999000	0.42202	0.999000	0.59377	0.968000	0.65278	0.620000	0.24403	0.421000	0.25980	-0.142000	0.14014	CAG		0.567	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		10	56	1	0	2.17888e-05	1	2.25032e-05	10	56				
WDR93	56964	broad.mit.edu	37	15	90246288	90246288	+	Silent	SNP	G	G	A	rs377345020		TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr15:90246288G>A	ENST00000268130.7	+	3	512	c.411G>A	c.(409-411)gcG>gcA	p.A137A	WDR93_ENST00000558000.1_Silent_p.A137A|RP11-300G22.2_ENST00000557964.1_RNA|WDR93_ENST00000560294.1_Silent_p.A137A	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	137					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			AAATATATGCGTGGGAGAAGC	0.393																																						ENST00000268130.7																			0				NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33						c.(409-411)gcG>gcA		WD repeat domain 93		G		1,4399	2.1+/-5.4	0,1,2199	172.0	167.0	169.0		411	-7.8	0.0	15		169	0,8598		0,0,4299	no	coding-synonymous	WDR93	NM_020212.1		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		137/687	90246288	1,12997	2200	4299	6499	SO:0001819	synonymous_variant	56964				electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH	g.chr15:90246288G>A		CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.411G>A	15.37:g.90246288G>A						WDR93_ENST00000558000.1_Silent_p.A137A|WDR93_ENST00000560294.1_Silent_p.A137A	p.A137A	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		3	512	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		137					Q8N7Y8|Q9NP89	Silent	SNP	ENST00000268130.7	37	c.411G>A	CCDS32326.1																																																																																				0.393	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212		29	87	0	0	0	1	0	29	87				
COX10	1352	broad.mit.edu	37	17	14095349	14095349	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr17:14095349G>C	ENST00000261643.3	+	6	816	c.739G>C	c.(739-741)Gga>Cga	p.G247R	COX10_ENST00000537334.1_Missense_Mutation_p.G30R|COX10_ENST00000536205.1_Missense_Mutation_p.G55R	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	247					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TGCTGTTCCGGGAGTTGCCAT	0.498																																						ENST00000261643.3																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(739-741)Gga>Cga		cytochrome c oxidase assembly homolog 10 (yeast)							123.0	118.0	120.0					17																	14095349		2203	4300	6503	SO:0001583	missense	1352				heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity	g.chr17:14095349G>C	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.739G>C	17.37:g.14095349G>C	ENSP00000261643:p.Gly247Arg					COX10_ENST00000537334.1_Missense_Mutation_p.G30R|COX10_ENST00000536205.1_Missense_Mutation_p.G55R	p.G247R	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)	6	816	+		all_lung(20;0.06)|Lung SC(565;0.168)	247					B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	37	c.739G>C	CCDS11166.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439478	0.83885	.	.	ENSG00000006695	ENST00000261643;ENST00000536205;ENST00000537334	D;D;D	0.94232	-3.38;-3.38;-3.38	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.98077	0.9366	H	0.98238	4.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99585	1.0974	10	0.87932	D	0	.	16.7712	0.85538	0.0:0.0:1.0:0.0	.	55;247	B4DJ50;Q12887	.;COX10_HUMAN	R	247;55;30	ENSP00000261643:G247R;ENSP00000439494:G55R;ENSP00000443354:G30R	ENSP00000261643:G247R	G	+	1	0	COX10	14036074	1.000000	0.71417	0.883000	0.34634	0.814000	0.46013	9.060000	0.93907	2.470000	0.83445	0.655000	0.94253	GGA		0.498	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		18	65	0	0	0	1	0	18	65				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393500.3_Silent_p.Q104Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q204Q(1)	lung(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(310-312)caG>caA		forkhead box P2							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270000G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A						FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		4	63	0	0	0	1	0	4	63				
RCHY1	25898	broad.mit.edu	37	4	76419364	76419364	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr4:76419364delG	ENST00000324439.5	-	4	750	c.352delC	c.(352-354)catfs	p.H118fs	RCHY1_ENST00000451788.1_Frame_Shift_Del_p.H118fs|RCHY1_ENST00000380840.2_Frame_Shift_Del_p.H78fs|RCHY1_ENST00000513257.1_Frame_Shift_Del_p.H118fs|RCHY1_ENST00000512706.1_Frame_Shift_Del_p.H96fs|RCHY1_ENST00000514021.1_5'UTR	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	118					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTCAAACAATGGAAAAAATCT	0.279																																						ENST00000324439.5																			0				large_intestine(2)|pancreas(1)	3						c.(352-354)atfs		ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase							49.0	49.0	49.0					4																	76419364		2201	4293	6494	SO:0001589	frameshift_variant	25898				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:76419364delG	AF255666	CCDS3567.1, CCDS34012.1, CCDS63990.1, CCDS63991.1, CCDS63992.1	4q21.1-q21.3	2014-02-17	2012-02-23	2004-03-30	ENSG00000163743	ENSG00000163743		"""RING-type (C3HC4) zinc fingers"""	17479	protein-coding gene	gene with protein product	"""androgen-receptor N-terminal-interacting protein"", ""p53-induced protein with a RING-H2 domain"", ""zinc finger, CHY-type"""	607680	"""zinc finger protein 363"", ""ring finger and CHY zinc finger domain containing 1"""	ZNF363		12654245	Standard	NM_015436		Approved	CHIMP, DKFZp586C1620, PRO1996, RNF199, ARNIP, PIRH2, ZCHY	uc003hik.3	Q96PM5	OTTHUMG00000130105	ENST00000324439.5:c.352delC	4.37:g.76419364delG	ENSP00000321239:p.His118fs					RCHY1_ENST00000512706.1_Frame_Shift_Del_p.H96fs|RCHY1_ENST00000380840.2_Frame_Shift_Del_p.H78fs|RCHY1_ENST00000451788.1_Frame_Shift_Del_p.H118fs|RCHY1_ENST00000513257.1_Frame_Shift_Del_p.H118fs|RCHY1_ENST00000514021.1_5'UTR	p.H118fs	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		4	750	-			118					B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Frame_Shift_Del	DEL	ENST00000324439.5	37	c.352delC	CCDS3567.1																																																																																				0.279	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252411.2	NM_015436		2	4						2	4	---	---	---	---
SPATA31D5P	347127	broad.mit.edu	37	9	84528568	84528568	+	RNA	DEL	A	A	-	rs141534101	byFrequency	TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr9:84528568delA	ENST00000527857.1	+	0	217					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		AATGATATCCAAAAGGTAAGG	0.398													|||unknown(ALL_OTHER_Ns)	55	0.0109824	0.0023	0.0202	5008	,	,		20180	0.0		0.0378	False		,,,				2504	0.0					ENST00000527857.1																			0																																																			0							g.chr9:84528568delA			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84528568delA								NR_026851.1						0	217	+									RNA	DEL	ENST00000527857.1	37																																																																																						0.398	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		3	3						3	3	---	---	---	---
KRT2	3849	broad.mit.edu	37	12	53045603	53045604	+	In_Frame_Ins	INS	-	-	AAGCCGCTGCCACCTCCA	rs369691469		TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr12:53045603_53045604insAAGCCGCTGCCACCTCCA	ENST00000309680.3	-	1	344_345	c.323_324insTGGAGGTGGCAGCGGCTT	c.(322-324)ttc>ttTGGAGGTGGCAGCGGCTTc	p.108_108F>FGGGSGF		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	108	Head.			F -> FGGGSGF (in Ref. 1; AAC83410 and 2; AAB81946). {ECO:0000305}.	epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		caccaccactgaagccgctgcc	0.629																																						ENST00000309680.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(322-324)tag>tTGGAGGTGGCAGCGGCTTag		keratin 2				94,555,3563		2,3,87,30,492,1492						-7.4	0.2		dbSNP_126	33	1,1614,6567		0,0,1,206,1202,2682	no	codingComplex	KRT2	NM_000423.2		2,3,88,236,1694,4174	A1A1,A1A2,A1R,A2A2,A2R,RR		19.7385,15.4084,18.2669				95,2169,10130				SO:0001652	inframe_insertion	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53045603_53045604insAAGCCGCTGCCACCTCCA		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.306_323dupTGGAGGTGGCAGCGGCTT	12.37:g.53045603_53045604insAAGCCGCTGCCACCTCCA	ENSP00000310861:p.GlyGlyGlySerGlyPhe108dup						p.107_108insLEVAAA	NM_000423.2	NP_000414.2	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	1	344_345	-			107			Head.		Q4VAQ2	In_Frame_Ins	INS	ENST00000309680.3	37	c.323_324insTGGAGGTGGCAGCGGCTT	CCDS8835.1																																																																																				0.629	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		8	22						8	22	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102312241	102312241	+	RNA	DEL	A	A	-	rs59860046|rs371768420	byFrequency	TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr15:102312241delA	ENST00000561463.1	+	0	13609				RN7SL209P_ENST00000488309.2_RNA					DNM1 pseudogene 47																		AGTGGCCGGGAAATTTGCTGT	0.592													|||unknown(NO_COVERAGE)	1711	0.341653	0.5144	0.3516	5008	,	,		9688	0.0565		0.5089	False		,,,				2504	0.2229					ENST00000561463.1																			0																																																			0							g.chr15:102312241delA	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102312241delA														0	13609	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	10						5	10	---	---	---	---
COTL1	23406	broad.mit.edu	37	16	84651477	84651477	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr16:84651477delT	ENST00000262428.4	-	1	206	c.44delA	c.(43-45)aacfs	p.N15fs	COTL1_ENST00000564057.1_5'UTR	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like F-actin binding protein 1	15	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				defense response to fungus (GO:0050832)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						GCGCACCAGGTTGTACGCCGC	0.726																																						ENST00000262428.4																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						c.(43-45)acfs		coactosin-like 1 (Dictyostelium)							16.0	13.0	14.0					16																	84651477		2165	4255	6420	SO:0001589	frameshift_variant	23406					cytoplasm|cytoskeleton	actin binding|enzyme binding	g.chr16:84651477delT	L54057	CCDS10947.1	16q24.1	2014-03-05	2014-03-05	2002-08-01	ENSG00000103187	ENSG00000103187			18304	protein-coding gene	gene with protein product		606748	"""coactosin-like 1 (Dictyostelium)"""			10051563, 9326934, 16924104	Standard	NM_021149		Approved	CLP	uc002fid.3	Q14019	OTTHUMG00000137634	ENST00000262428.4:c.44delA	16.37:g.84651477delT	ENSP00000262428:p.Asn15fs					COTL1_ENST00000564057.1_5'UTR	p.N15fs	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN			1	206	-			15			ADF-H.		B2RDU3|D3DUL9|Q86XM5	Frame_Shift_Del	DEL	ENST00000262428.4	37	c.44delA	CCDS10947.1																																																																																				0.726	COTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269075.1	NM_021149		2	4						2	4	---	---	---	---
NGFR	4804	broad.mit.edu	37	17	47594374	47594374	+	IGR	DEL	G	G	-			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr17:47594374delG	ENST00000172229.3	+	0	3417				RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor						apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					ctgaaatcaaggaggaagcat	0.582																																						ENST00000514506.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:47594374delG	M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	7809	protein-coding gene	gene with protein product	"""low affinity nerve growth factor receptor"", ""TNFR superfamily, member 16"""	162010	"""nerve growth factor receptor (TNFR superfamily, member 16)"""			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495		17.37:g.47594374delG								NR_103773.1						0	246	-								B2R961|B4E096	RNA	DEL	ENST00000172229.3	37		CCDS11549.1																																																																																				0.582	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1			2	4						2	4	---	---	---	---
