#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
C1orf159	54991	broad.mit.edu	37	1	1021259	1021259	+	Splice_Site	SNP	T	T	G			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr1:1021259T>G	ENST00000379339.1	-	9	762	c.552A>C	c.(550-552)aaA>aaC	p.K184N	C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000294576.5_Splice_Site_p.K148N|C1orf159_ENST00000448924.1_Splice_Site_p.K184N|C1orf159_ENST00000437760.1_Splice_Site_p.K148N|C1orf159_ENST00000379320.1_Splice_Site_p.K148N|C1orf159_ENST00000421241.2_Splice_Site_p.K148N|C1orf159_ENST00000379319.1_Splice_Site_p.K148N			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	184						integral component of membrane (GO:0016021)						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GGGAGATACCTTTGTTTCTTC	0.612																																						ENST00000448924.1																			0											c.(550-552)aaA>aaC		chromosome 1 open reading frame 159							55.0	51.0	52.0					1																	1021259		2202	4300	6502	SO:0001630	splice_region_variant	54991					integral to membrane		g.chr1:1021259T>G	AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591			26062	protein-coding gene	gene with protein product						12975309	Standard	NM_017891		Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.553+1A>C	1.37:g.1021259T>G			Somatic				C1orf159_ENST00000379320.1_Splice_Site_p.K148N|C1orf159_ENST00000437760.1_Splice_Site_p.K148N|C1orf159_ENST00000421241.2_Splice_Site_p.K148N|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000379339.1_Splice_Site_p.K184N|C1orf159_ENST00000294576.5_Splice_Site_p.K148N|C1orf159_ENST00000379319.1_Splice_Site_p.K148N	p.K184N			WXS	Illumina GAIIx	Phase_I	Q96HA4	CA159_HUMAN		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	8	983	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	184					B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	Splice_Site	SNP	ENST00000379339.1	37	c.552A>C		.	.	.	.	.	.	.	.	.	.	T	13.90	2.376007	0.42105	.	.	ENSG00000131591	ENST00000379339;ENST00000448924;ENST00000294576;ENST00000421241;ENST00000379320;ENST00000379319;ENST00000434641;ENST00000457999;ENST00000437760	.	.	.	4.48	4.48	0.54585	.	0.119316	0.53938	D	0.000041	T	0.64746	0.2626	L	0.50333	1.59	0.43617	D	0.99599	P;D;D;D;P	0.63046	0.904;0.979;0.992;0.979;0.944	P;P;D;P;P	0.64410	0.625;0.801;0.925;0.801;0.714	T	0.67035	-0.5772	9	0.87932	D	0	-17.7358	6.7301	0.23379	0.0:0.1074:0.0:0.8926	.	148;184;148;148;148	Q5T2W7;Q96HA4;Q96HA4-4;Q5T2W9;E9PBW5	.;CA159_HUMAN;.;.;.	N	184;184;148;148;148;148;148;159;148	.	ENSP00000294576:K148N	K	-	3	2	C1orf159	1011122	1.000000	0.71417	0.621000	0.29145	0.016000	0.09150	1.960000	0.40422	1.660000	0.50760	0.459000	0.35465	AAA		0.612	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000001851.2	NM_017891	Missense_Mutation	4	23	4	23	---	---	---	---
SYTL1	84958	broad.mit.edu	37	1	27675577	27675577	+	Missense_Mutation	SNP	G	G	C			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr1:27675577G>C	ENST00000543823.1	+	5	928	c.466G>C	c.(466-468)Gat>Cat	p.D156H	SYTL1_ENST00000318074.5_Intron|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	156					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TCAGGGACCTGATTTCCCATC	0.592																																						ENST00000543823.1																			0				NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12						c.(466-468)Gat>Cat		synaptotagmin-like 1							104.0	110.0	108.0					1																	27675577		2203	4300	6503	SO:0001583	missense	84958				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding	g.chr1:27675577G>C	AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.466G>C	1.37:g.27675577G>C	ENSP00000440704:p.Asp156His		Somatic				SYTL1_ENST00000318074.5_Intron|SYTL1_ENST00000490170.1_3'UTR	p.D156H			WXS	Illumina GAIIx	Phase_I	Q8IYJ3	SYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	5	928	+		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)	156					Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Missense_Mutation	SNP	ENST00000543823.1	37	c.466G>C	CCDS53286.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858202	0.51376	.	.	ENSG00000142765	ENST00000543823	T	0.47528	0.84	4.12	3.2	0.36748	.	2.825870	0.00944	N	0.002864	T	0.67258	0.2874	M	0.62723	1.935	0.09310	N	1	D;P	0.89917	1.0;0.761	D;B	0.73380	0.98;0.275	T	0.32428	-0.9907	10	0.72032	D	0.01	.	7.789	0.29108	0.1171:0.0:0.8829:0.0	.	156;156	G3V181;Q8IYJ3	.;SYTL1_HUMAN	H	156	ENSP00000440704:D156H	ENSP00000433671:D156H	D	+	1	0	SYTL1	27548164	0.007000	0.16637	0.036000	0.18154	0.145000	0.21501	1.493000	0.35605	1.062000	0.40625	0.462000	0.41574	GAT		0.592	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032872		27	39	27	39	---	---	---	---
LY9	4063	broad.mit.edu	37	1	160771695	160771695	+	Intron	SNP	G	G	A			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr1:160771695G>A	ENST00000263285.6	+	2	484				LY9_ENST00000471816.1_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000392203.4_Intron|LY9_ENST00000368037.5_Intron|LY9_ENST00000368040.1_Intron|LY9_ENST00000368041.2_Intron|LY9_ENST00000368039.2_Silent_p.V190V			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTGTGAGCGTGCGGGAGGGCT	0.687																																						ENST00000368039.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(568-570)gtG>gtA		lymphocyte antigen 9							61.0	62.0	62.0					1																	160771695		2203	4300	6503	SO:0001627	intron_variant	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160771695G>A	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.454+1823G>A	1.37:g.160771695G>A			Somatic				LY9_ENST00000368037.5_Intron|LY9_ENST00000392203.4_Intron|LY9_ENST00000368041.2_Intron|LY9_ENST00000263285.6_Intron|LY9_ENST00000368040.1_Intron|LY9_ENST00000471816.1_Intron|LY9_ENST00000341032.4_Intron	p.V190V	NM_001033667.2	NP_001028839.1	WXS	Illumina GAIIx	Phase_I	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		3	571	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		0			Ig-like C2-type 1.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Silent	SNP	ENST00000263285.6	37	c.570G>A	CCDS30916.1																																																																																				0.687	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		10	79	10	79	---	---	---	---
F13B	2165	broad.mit.edu	37	1	197008543	197008543	+	Splice_Site	SNP	T	T	A			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr1:197008543T>A	ENST00000367412.1	-	12	1996		c.e12-2		F13B_ENST00000490002.1_5'Flank	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide						blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GACAGAGTGCTTGAGGGGAAA	0.303																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.e12-2		coagulation factor XIII, B polypeptide							147.0	167.0	160.0					1																	197008543		2203	4295	6498	SO:0001630	splice_region_variant	2165				blood coagulation	extracellular region		g.chr1:197008543T>A	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1953-2A>T	1.37:g.197008543T>A			Somatic						NM_001994.2	NP_001985.2	WXS	Illumina GAIIx	Phase_I	P05160	F13B_HUMAN			12	1996	-								A8K3E5|Q5VYL5	Splice_Site	SNP	ENST00000367412.1	37		CCDS1388.1	.	.	.	.	.	.	.	.	.	.	T	7.092	0.572413	0.13623	.	.	ENSG00000143278	ENST00000367412	.	.	.	4.29	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9734	0.41768	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	F13B	195275166	0.984000	0.35163	0.508000	0.27688	0.013000	0.08279	3.276000	0.51646	1.918000	0.55548	0.383000	0.25322	.		0.303	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994	Intron	4	151	4	151	---	---	---	---
SRGAP2	23380	broad.mit.edu	37	1	206610382	206610382	+	Silent	SNP	C	C	G	rs537405456		TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr1:206610382C>G	ENST00000414007.1	+	11	1203	c.1203C>G	c.(1201-1203)gcC>gcG	p.A401A	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	541	F-BAR domain.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TCAAAAATGCCTTTGAGAGAG	0.453																																						ENST00000414007.1																			0				NS(1)|breast(1)|kidney(1)|lung(1)	4						c.(1201-1203)gcC>gcG		SLIT-ROBO Rho GTPase activating protein 2							141.0	139.0	140.0					1																	206610382		2037	4246	6283	SO:0001819	synonymous_variant	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206610382C>G	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.1203C>G	1.37:g.206610382C>G			Somatic				SRGAP2_ENST00000419187.2_5'UTR	p.A401A			WXS	Illumina GAIIx	Phase_I	O75044	FNBP2_HUMAN			11	1203	+	Breast(84;0.137)		541						Silent	SNP	ENST00000414007.1	37	c.1203C>G		.	.	.	.	.	.	.	.	.	.	C	9.776	1.173940	0.21704	.	.	ENSG00000163486	ENST00000295713	.	.	.	5.78	2.84	0.33178	.	.	.	.	.	T	0.38480	0.1042	.	.	.	0.30907	N	0.729093	.	.	.	.	.	.	T	0.42916	-0.9423	3	.	.	.	.	4.5377	0.12042	0.2457:0.5032:0.0:0.2511	.	.	.	.	V	455	.	.	L	+	1	0	SRGAP2	204677005	0.883000	0.30277	1.000000	0.80357	0.973000	0.67179	0.443000	0.21644	0.341000	0.23771	-0.140000	0.14226	CTT		0.453	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		6	93	6	93	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237787069	237787069	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr1:237787069A>G	ENST00000366574.2	+	39	6238	c.5921A>G	c.(5920-5922)aAt>aGt	p.N1974S	RYR2_ENST00000360064.6_Missense_Mutation_p.N1972S|RYR2_ENST00000542537.1_Missense_Mutation_p.N1958S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1974	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTCAGATCAATATGCTTCTC	0.408																																						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.(5920-5922)aAt>aGt		ryanodine receptor 2 (cardiac)							76.0	73.0	74.0					1																	237787069		1842	4097	5939	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.chr1:237787069A>G	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.5921A>G	1.37:g.237787069A>G	ENSP00000355533:p.Asn1974Ser		Somatic				RYR2_ENST00000360064.6_Missense_Mutation_p.N1972S|RYR2_ENST00000542537.1_Missense_Mutation_p.N1958S	p.N1974S	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		39	6238	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1974			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5921A>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.235589	0.58886	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.72615	-0.67;-0.67;-0.67	5.34	5.34	0.76211	.	0.169902	0.36444	N	0.002581	T	0.67720	0.2923	M	0.67700	2.07	0.80722	D	1	P	0.36495	0.556	B	0.31191	0.125	T	0.72023	-0.4415	10	0.56958	D	0.05	.	15.6508	0.77091	1.0:0.0:0.0:0.0	.	1974	Q92736	RYR2_HUMAN	S	1974;1972;1958	ENSP00000355533:N1974S;ENSP00000353174:N1972S;ENSP00000443798:N1958S	ENSP00000353174:N1972S	N	+	2	0	RYR2	235853692	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.008000	0.93601	2.148000	0.66965	0.529000	0.55759	AAT		0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		11	12	11	12	---	---	---	---
EPT1	85465	broad.mit.edu	37	2	26609300	26609300	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr2:26609300G>A	ENST00000260585.7	+	9	1110	c.991G>A	c.(991-993)Gtc>Atc	p.V331I		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	331					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)										CTTCTTGGTTGTCTTAGTGGT	0.423																																						ENST00000260585.7																			0											c.(991-993)Gtc>Atc		ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)							165.0	158.0	160.0					2																	26609300		1870	4096	5966	SO:0001583	missense	85465				phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding	g.chr2:26609300G>A		CCDS46240.1	2p23.3	2012-03-01			ENSG00000138018	ENSG00000138018	2.7.8.1		29361	protein-coding gene	gene with protein product	"""selenoprotein I"""	607915				11214970, 17132865	Standard	NM_033505		Approved	KIAA1724, SELI, SEPI	uc021veu.1	Q9C0D9	OTTHUMG00000151931	ENST00000260585.7:c.991G>A	2.37:g.26609300G>A	ENSP00000260585:p.Val331Ile		Somatic					p.V331I	NM_033505.2	NP_277040.1	WXS	Illumina GAIIx	Phase_I	Q9C0D9	EPT1_HUMAN			9	1110	+			331					Q63ZE3	Missense_Mutation	SNP	ENST00000260585.7	37	c.991G>A	CCDS46240.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038569	0.55003	.	.	ENSG00000138018	ENST00000260585	T	0.46451	0.87	6.06	5.18	0.71444	.	0.216369	0.39834	N	0.001253	T	0.33059	0.0850	L	0.48877	1.53	0.41655	D	0.989158	B	0.26120	0.142	B	0.26693	0.072	T	0.10941	-1.0608	10	0.26408	T	0.33	-12.7115	7.9021	0.29740	0.0826:0.1626:0.7548:0.0	.	331	Q9C0D9	EPT1_HUMAN	I	331	ENSP00000260585:V331I	ENSP00000260585:V331I	V	+	1	0	EPT1	26462804	1.000000	0.71417	0.998000	0.56505	0.660000	0.38997	2.098000	0.41757	2.882000	0.98803	0.655000	0.94253	GTC		0.423	EPT1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000324484.3	NM_033505.2		22	44	22	44	---	---	---	---
RAB6C	84084	broad.mit.edu	37	2	130738003	130738003	+	Silent	SNP	A	A	G	rs371407777		TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr2:130738003A>G	ENST00000410061.2	+	1	769	c.315A>G	c.(313-315)acA>acG	p.T105T	AC079776.7_ENST00000412425.1_RNA	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	105	Required for centrosome localization.				cell cycle process (GO:0022402)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of centrosome duplication (GO:0010824)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					AGCAAACTACAAAGTGGATTG	0.428																																						ENST00000410061.2																			0				large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5						c.(313-315)acA>acG		RAB6C, member RAS oncogene family		A		2,4404		0,2,2201	142.0	154.0	150.0		315		0.0	2		150	0,8594		0,0,4297	no	coding-synonymous	RAB6C	NM_032144.2		0,2,6498	GG,GA,AA		0.0,0.0454,0.0154		105/255	130738003	2,12998	2203	4297	6500	SO:0001819	synonymous_variant	84084				protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity	g.chr2:130738003A>G	AF124200	CCDS46408.1	2q21.1	2012-07-02			ENSG00000222014	ENSG00000222014		"""RAB, member RAS oncogene"""	16525	protein-coding gene	gene with protein product		612909				11054569, 17426708	Standard	NM_032144		Approved	WTH3	uc002tpx.1	Q9H0N0	OTTHUMG00000153487	ENST00000410061.2:c.315A>G	2.37:g.130738003A>G			Somatic				AC079776.7_ENST00000412425.1_RNA	p.T105T	NM_032144.2	NP_115520.2	WXS	Illumina GAIIx	Phase_I	Q9H0N0	RAB6C_HUMAN			1	769	+	Colorectal(110;0.1)		105					Q53RU3|Q6FIF7|Q9P128	Silent	SNP	ENST00000410061.2	37	c.315A>G	CCDS46408.1																																																																																				0.428	RAB6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331384.1	NM_032144		6	121	6	121	---	---	---	---
ITGB6	3694	broad.mit.edu	37	2	161030498	161030498	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr2:161030498G>A	ENST00000283249.2	-	5	983	c.746C>T	c.(745-747)gCt>gTt	p.A249V	ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Missense_Mutation_p.A249V|ITGB6_ENST00000409967.2_Missense_Mutation_p.A249V|ITGB6_ENST00000428609.2_Missense_Mutation_p.A207V	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	249	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ACACACAGCAGCTTGCATAAT	0.333																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(745-747)gCt>gTt		integrin, beta 6							108.0	107.0	107.0					2																	161030498		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:161030498G>A		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.746C>T	2.37:g.161030498G>A	ENSP00000283249:p.Ala249Val		Somatic				ITGB6_ENST00000409872.1_Missense_Mutation_p.A249V|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000428609.2_Missense_Mutation_p.A207V|ITGB6_ENST00000409967.2_Missense_Mutation_p.A249V	p.A249V	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	WXS	Illumina GAIIx	Phase_I	P18564	ITB6_HUMAN			5	983	-			249			VWFA.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.746C>T	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180179	0.78564	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04	5.09	5.09	0.68999	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	L	0.43646	1.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91849	0.5490	10	0.21540	T	0.41	.	18.843	0.92192	0.0:0.0:1.0:0.0	.	207;249	E9PEE8;P18564	.;ITB6_HUMAN	V	249;207;249;249	ENSP00000283249:A249V;ENSP00000408024:A207V;ENSP00000386828:A249V;ENSP00000386367:A249V	ENSP00000283249:A249V	A	-	2	0	ITGB6	160738744	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.528000	0.81941	2.536000	0.85505	0.491000	0.48974	GCT		0.333	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		8	50	8	50	---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64526848	64526848	+	Missense_Mutation	SNP	C	C	A			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr3:64526848C>A	ENST00000498707.1	-	36	5786	c.5444G>T	c.(5443-5445)tGt>tTt	p.C1815F	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.C1787F	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1815	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ATCCTTCCGACATTGGCAGTC	0.453																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(5443-5445)tGt>tTt		ADAM metallopeptidase with thrombospondin type 1 motif, 9							85.0	85.0	85.0					3																	64526848		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64526848C>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5444G>T	3.37:g.64526848C>A	ENSP00000418735:p.Cys1815Phe		Somatic				ADAMTS9_ENST00000295903.4_Missense_Mutation_p.C1787F	p.C1815F	NM_182920.1	NP_891550.1	WXS	Illumina GAIIx	Phase_I	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	36	5786	-		Lung NSC(201;0.00682)	1815			GON.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.5444G>T	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.300145|4.300145	0.81136|0.81136	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000295903;ENST00000498707|ENST00000481060	T;T|.	0.18810|.	2.19;2.19|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Peptidase M12B, GON-ADAMTSs (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83557|0.83557	0.5280|0.5280	M|M	0.85462|0.85462	2.755|2.755	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.84407|0.84407	0.0563|0.0563	10|5	0.87932|.	D|.	0|.	.|.	19.9036|19.9036	0.96999|0.96999	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1787;1815|.	B7ZVX9;Q9P2N4|.	.;ATS9_HUMAN|.	F|F	1787;1815|871	ENSP00000295903:C1787F;ENSP00000418735:C1815F|.	ENSP00000295903:C1787F|.	C|V	-|-	2|1	0|0	ADAMTS9|ADAMTS9	64501888|64501888	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.819000|0.819000	0.46315|0.46315	7.076000|7.076000	0.76806|0.76806	2.706000|2.706000	0.92434|0.92434	0.655000|0.655000	0.94253|0.94253	TGT|GTC		0.453	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			36	47	36	47	---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66502033	66502033	+	Silent	SNP	T	T	C			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr3:66502033T>C	ENST00000273261.3	-	3	839	c.315A>G	c.(313-315)acA>acG	p.T105T	LRIG1_ENST00000383703.3_Silent_p.T105T	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	105					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ATGGTACCGCTGTCAACTCAT	0.443																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(313-315)acA>acG		leucine-rich repeats and immunoglobulin-like domains 1							182.0	160.0	168.0					3																	66502033		2203	4300	6503	SO:0001819	synonymous_variant	26018					integral to membrane		g.chr3:66502033T>C	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.315A>G	3.37:g.66502033T>C			Somatic				LRIG1_ENST00000273261.3_Silent_p.T105T	p.T105T			WXS	Illumina GAIIx	Phase_I	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	3	918	-		Lung NSC(201;0.0101)	105					Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	c.315A>G	CCDS33783.1																																																																																				0.443	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		41	50	41	50	---	---	---	---
MAP3K13	9175	broad.mit.edu	37	3	185146622	185146622	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr3:185146622C>T	ENST00000265026.3	+	2	587	c.253C>T	c.(253-255)Ctt>Ttt	p.L85F	MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000424227.1_Missense_Mutation_p.L85F|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000443863.1_Intron	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GAACAGCGTTCTTCAGCTAAG	0.532																																						ENST00000265026.3																			0				NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(253-255)Ctt>Ttt		mitogen-activated protein kinase kinase kinase 13							105.0	80.0	88.0					3																	185146622		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185146622C>T	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.253C>T	3.37:g.185146622C>T	ENSP00000265026:p.Leu85Phe		Somatic				MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000443863.1_Intron|MAP3K13_ENST00000424227.1_Missense_Mutation_p.L85F	p.L85F	NM_004721.4	NP_004712.1	WXS	Illumina GAIIx	Phase_I	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		2	587	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		85						Missense_Mutation	SNP	ENST00000265026.3	37	c.253C>T	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252721	0.80135	.	.	ENSG00000073803	ENST00000447637;ENST00000424227;ENST00000428617;ENST00000265026	T;D;T;D	0.82711	-0.14;-1.64;-0.49;-1.64	5.61	4.55	0.56014	.	0.084186	0.48286	D	0.000192	T	0.80954	0.4723	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78795	-0.2064	10	0.21540	T	0.41	.	15.3983	0.74816	0.0:0.9222:0.0:0.0778	.	85	O43283	M3K13_HUMAN	F	85	ENSP00000389495:L85F;ENSP00000399910:L85F;ENSP00000405163:L85F;ENSP00000265026:L85F	ENSP00000265026:L85F	L	+	1	0	MAP3K13	186629316	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.034000	0.49751	2.640000	0.89533	0.655000	0.94253	CTT		0.532	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		15	22	15	22	---	---	---	---
SFRP2	6423	broad.mit.edu	37	4	154709764	154709764	+	Missense_Mutation	SNP	T	T	C			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr4:154709764T>C	ENST00000274063.4	-	1	508	c.224A>G	c.(223-225)cAg>cGg	p.Q75R		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	75	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				AGCGCCGGCCTGCTCCAGCAC	0.632																																						ENST00000274063.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(223-225)cAg>cGg		secreted frizzled-related protein 2							83.0	94.0	90.0					4																	154709764		2203	4300	6503	SO:0001583	missense	6423				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	g.chr4:154709764T>C	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"""Secreted frizzled-related proteins"""	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.224A>G	4.37:g.154709764T>C	ENSP00000274063:p.Gln75Arg		Somatic					p.Q75R	NM_003013.2	NP_003004.1	WXS	Illumina GAIIx	Phase_I	Q96HF1	SFRP2_HUMAN			1	508	-	all_hematologic(180;0.093)	Renal(120;0.117)	75			FZ.		B3KQR2|O14778|Q9HAP5	Missense_Mutation	SNP	ENST00000274063.4	37	c.224A>G	CCDS34082.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.161954	0.78226	.	.	ENSG00000145423	ENST00000274063	T	0.75938	-0.98	4.67	4.67	0.58626	Frizzled domain (5);	0.051009	0.85682	D	0.000000	T	0.77505	0.4140	L	0.49256	1.55	0.80722	D	1	P	0.45902	0.868	P	0.51945	0.685	T	0.78723	-0.2093	10	0.49607	T	0.09	.	14.3822	0.66919	0.0:0.0:0.0:1.0	.	75	Q96HF1	SFRP2_HUMAN	R	75	ENSP00000274063:Q75R	ENSP00000274063:Q75R	Q	-	2	0	SFRP2	154929214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.904000	0.87408	1.857000	0.53885	0.533000	0.62120	CAG		0.632	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			21	75	21	75	---	---	---	---
PPAP2A	8611	broad.mit.edu	37	5	54786858	54786858	+	Intron	SNP	T	T	C			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr5:54786858T>C	ENST00000307259.8	-	2	479				PPAP2A_ENST00000264775.5_Missense_Mutation_p.Y48C|PPAP2A_ENST00000515132.1_Intron	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A						androgen receptor signaling pathway (GO:0030521)|germ cell migration (GO:0008354)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|phospholipid dephosphorylation (GO:0046839)|protein dephosphorylation (GO:0006470)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of lipid metabolic process (GO:0019216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				ATGGTACGGATAGTTGATGCT	0.443																																						ENST00000264775.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9						c.(142-144)tAt>tGt		phosphatidic acid phosphatase type 2A							102.0	90.0	94.0					5																	54786858		2203	4300	6503	SO:0001627	intron_variant	8611				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr5:54786858T>C	AB000888	CCDS34159.1, CCDS34160.1	5q11	2009-05-27			ENSG00000067113	ENSG00000067113	3.1.3.4		9228	protein-coding gene	gene with protein product		607124				9305923	Standard	NM_003711		Approved	PAP-2a, LPP1	uc003jpz.4	O14494	OTTHUMG00000162240	ENST00000307259.8:c.59-15580A>G	5.37:g.54786858T>C			Somatic				PPAP2A_ENST00000515132.1_Intron|PPAP2A_ENST00000307259.8_Intron	p.Y48C	NM_176895.1	NP_795714.1	WXS	Illumina GAIIx	Phase_I	O14494	LPP1_HUMAN			2	482	-		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)	47					B7ZKN8|G3XA95|O60457|O60463|Q17RZ4	Missense_Mutation	SNP	ENST00000307259.8	37	c.143A>G	CCDS34159.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.979625	0.74360	.	.	ENSG00000067113	ENST00000264775	T	0.76060	-0.99	6.17	5.0	0.66597	.	0.156488	0.64402	D	0.000014	D	0.90017	0.6883	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92137	0.5717	10	0.87932	D	0	-14.9104	12.8497	0.57850	0.1223:0.0:0.0:0.8776	.	48	G3XA95	.	C	48	ENSP00000264775:Y48C	ENSP00000264775:Y48C	Y	-	2	0	PPAP2A	54822615	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	5.926000	0.70070	1.126000	0.42016	0.533000	0.62120	TAT		0.443	PPAP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368073.1			3	38	3	38	---	---	---	---
TIMD4	91937	broad.mit.edu	37	5	156381616	156381616	+	Silent	SNP	G	G	A			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr5:156381616G>A	ENST00000274532.2	-	2	266	c.210C>T	c.(208-210)cgC>cgT	p.R70R	TIMD4_ENST00000407087.3_Silent_p.R70R	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	70	Ig-like V-type.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCCATCAGTGCGGATGAGCG	0.527																																						ENST00000274532.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(208-210)cgC>cgT		T-cell immunoglobulin and mucin domain containing 4							117.0	107.0	111.0					5																	156381616		2203	4300	6503	SO:0001819	synonymous_variant	91937					integral to membrane		g.chr5:156381616G>A	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.210C>T	5.37:g.156381616G>A			Somatic				TIMD4_ENST00000407087.3_Silent_p.R70R	p.R70R	NM_138379.2	NP_612388.2	WXS	Illumina GAIIx	Phase_I	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	266	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	70			Ig-like V-type.		B5MCL9	Silent	SNP	ENST00000274532.2	37	c.210C>T	CCDS4332.1																																																																																				0.527	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		14	32	14	32	---	---	---	---
FILIP1	27145	broad.mit.edu	37	6	76022274	76022274	+	Missense_Mutation	SNP	C	C	A			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr6:76022274C>A	ENST00000237172.7	-	5	3604	c.3274G>T	c.(3274-3276)Gtc>Ttc	p.V1092F	FILIP1_ENST00000393004.2_Missense_Mutation_p.V1092F|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.V993F	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1092										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						ACTGGTCGGACAGTAATAACT	0.498																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(3274-3276)Gtc>Ttc		filamin A interacting protein 1							204.0	160.0	175.0					6																	76022274		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022274C>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3274G>T	6.37:g.76022274C>A	ENSP00000237172:p.Val1092Phe		Somatic				FILIP1_ENST00000370020.1_Missense_Mutation_p.V993F|FILIP1_ENST00000237172.7_Missense_Mutation_p.V1092F|FILIP1_ENST00000498523.1_5'UTR	p.V1092F			WXS	Illumina GAIIx	Phase_I	Q7Z7B0	FLIP1_HUMAN			5	3495	-			1092					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.3274G>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015537	0.75161	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.20463	2.08;2.07;2.08	5.86	5.86	0.93980	.	0.057856	0.64402	D	0.000001	T	0.33206	0.0855	M	0.61703	1.905	0.80722	D	1	D;P;D	0.59767	0.986;0.941;0.965	P;P;P	0.58331	0.757;0.691;0.837	T	0.00787	-1.1566	10	0.42905	T	0.14	-12.3679	20.1865	0.98220	0.0:1.0:0.0:0.0	.	1092;1092;1092	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	F	1092;1092;993	ENSP00000376728:V1092F;ENSP00000237172:V1092F;ENSP00000359037:V993F	ENSP00000237172:V1092F	V	-	1	0	FILIP1	76078994	1.000000	0.71417	0.998000	0.56505	0.356000	0.29392	4.899000	0.63245	2.775000	0.95449	0.655000	0.94253	GTC		0.498	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		30	79	30	79	---	---	---	---
AUTS2	26053	broad.mit.edu	37	7	70228266	70228266	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr7:70228266C>T	ENST00000342771.4	+	7	1474	c.1153C>T	c.(1153-1155)Cag>Tag	p.Q385*	AUTS2_ENST00000406775.2_Nonsense_Mutation_p.Q385*	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	385	Ser-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCCCTCTGCTCAGAGCCTCTC	0.612																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(1153-1155)Cag>Tag		autism susceptibility candidate 2							60.0	60.0	60.0					7																	70228266		2199	4284	6483	SO:0001587	stop_gained	26053							g.chr7:70228266C>T	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1153C>T	7.37:g.70228266C>T	ENSP00000344087:p.Gln385*		Somatic				AUTS2_ENST00000406775.2_Nonsense_Mutation_p.Q385*	p.Q385*	NM_015570.2	NP_056385.1	WXS	Illumina GAIIx	Phase_I	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	7	1474	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	385			Ser-rich.		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Nonsense_Mutation	SNP	ENST00000342771.4	37	c.1153C>T	CCDS5539.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.798541|7.798541	0.98495|0.98495	.|.	.|.	ENSG00000158321|ENSG00000158321	ENST00000406775;ENST00000342771|ENST00000416482	.|.	.|.	.|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.171394|.	0.53938|.	D|.	0.000056|.	.|T	.|0.65375	.|0.2685	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63537	.|-0.6615	.|4	.|.	.|.	.|.	-27.1014|-27.1014	13.3644|13.3644	0.60676|0.60676	0.0:0.9242:0.0:0.0758|0.0:0.9242:0.0:0.0758	.|.	.|.	.|.	.|.	X|L	385|165	.|.	.|.	Q|S	+|+	1|2	0|0	AUTS2|AUTS2	69866202|69866202	0.997000|0.997000	0.39634|0.39634	0.984000|0.984000	0.44739|0.44739	0.841000|0.841000	0.47740|0.47740	3.733000|3.733000	0.55029|0.55029	2.501000|2.501000	0.84356|0.84356	0.563000|0.563000	0.77884|0.77884	CAG|TCA		0.612	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			21	36	21	36	---	---	---	---
LRP12	29967	broad.mit.edu	37	8	105509980	105509980	+	Missense_Mutation	SNP	T	T	G			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr8:105509980T>G	ENST00000276654.5	-	5	908	c.800A>C	c.(799-801)tAt>tCt	p.Y267S	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Missense_Mutation_p.Y248S	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	267	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAAAGTACCATAAAAATATTT	0.403																																						ENST00000276654.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(799-801)tAt>tCt		low density lipoprotein receptor-related protein 12							57.0	60.0	59.0					8																	105509980		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105509980T>G	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.800A>C	8.37:g.105509980T>G	ENSP00000276654:p.Tyr267Ser		Somatic				LRP12_ENST00000424843.2_Missense_Mutation_p.Y248S	p.Y267S	NM_013437.4	NP_038465.1	WXS	Illumina GAIIx	Phase_I	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	908	-			267			CUB 2.		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.800A>C	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.188995	0.57909	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	T;T	0.15256	2.44;2.44	5.66	4.49	0.54785	CUB (5);	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	N	0.13299	0.325	0.80722	D	1	D;D	0.65815	0.994;0.995	P;D	0.63192	0.857;0.912	T	0.03922	-1.0992	10	0.30078	T	0.28	-30.5981	12.0452	0.53475	0.1294:0.0:0.0:0.8706	.	248;267	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	S	248;267	ENSP00000399148:Y248S;ENSP00000276654:Y267S	ENSP00000276654:Y267S	Y	-	2	0	LRP12	105579156	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	5.864000	0.69575	0.948000	0.37687	0.460000	0.39030	TAT		0.403	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		17	35	17	35	---	---	---	---
APBA1	320	broad.mit.edu	37	9	72131766	72131766	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr9:72131766G>A	ENST00000265381.4	-	2	583	c.361C>T	c.(361-363)Cag>Tag	p.Q121*		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	121					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGCCGGTACTGCACAGCATAG	0.731																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(361-363)Cag>Tag		amyloid beta (A4) precursor protein-binding, family A, member 1							27.0	25.0	26.0					9																	72131766		2201	4298	6499	SO:0001587	stop_gained	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131766G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.361C>T	9.37:g.72131766G>A	ENSP00000265381:p.Gln121*		Somatic					p.Q121*	NM_001163.3	NP_001154.2	WXS	Illumina GAIIx	Phase_I	Q02410	APBA1_HUMAN			2	583	-			121					O14914|O60570|Q5VYR8	Nonsense_Mutation	SNP	ENST00000265381.4	37	c.361C>T	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	G	37	6.374641	0.97515	.	.	ENSG00000107282	ENST00000265381	.	.	.	5.05	5.05	0.67936	.	0.065921	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	18.7673	0.91878	0.0:0.0:1.0:0.0	.	.	.	.	X	121	.	ENSP00000265381:Q121X	Q	-	1	0	APBA1	71321586	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.198000	0.77823	2.520000	0.84964	0.561000	0.74099	CAG		0.731	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		11	11	11	11	---	---	---	---
PTPDC1	138639	broad.mit.edu	37	9	96860386	96860386	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr9:96860386C>G	ENST00000375360.3	+	7	1716	c.1376C>G	c.(1375-1377)tCa>tGa	p.S459*	PTPDC1_ENST00000288976.3_Nonsense_Mutation_p.S511*	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	459					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TGGAGTCAGTCAAAGTTTGGA	0.473																																						ENST00000375360.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1375-1377)tCa>tGa		protein tyrosine phosphatase domain containing 1							64.0	59.0	60.0					9																	96860386		2203	4300	6503	SO:0001587	stop_gained	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96860386C>G	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.1376C>G	9.37:g.96860386C>G	ENSP00000364509:p.Ser459*		Somatic				PTPDC1_ENST00000288976.3_Nonsense_Mutation_p.S511*	p.S459*	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	WXS	Illumina GAIIx	Phase_I	A2A3K4	PTPC1_HUMAN			7	1716	+			459					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Nonsense_Mutation	SNP	ENST00000375360.3	37	c.1376C>G	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	33	5.281385	0.95489	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	.	.	.	6.17	6.17	0.99709	.	0.532915	0.22021	N	0.065722	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-0.8085	15.4014	0.74843	0.0:0.7548:0.2452:0.0	.	.	.	.	X	459;511	.	ENSP00000288976:S511X	S	+	2	0	PTPDC1	95900207	0.050000	0.20438	0.134000	0.22075	0.694000	0.40290	1.295000	0.33377	2.941000	0.99782	0.655000	0.94253	TCA		0.473	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		7	29	7	29	---	---	---	---
SMC2	10592	broad.mit.edu	37	9	106882359	106882359	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr9:106882359A>G	ENST00000286398.7	+	16	2336	c.2048A>G	c.(2047-2049)gAt>gGt	p.D683G	SMC2_ENST00000374787.3_Missense_Mutation_p.D683G|SMC2_ENST00000303219.8_Missense_Mutation_p.D683G|SMC2_ENST00000374793.3_Missense_Mutation_p.D683G	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	683					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GAACTCAAAGATGTTCAGGAT	0.413																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(2047-2049)gAt>gGt		structural maintenance of chromosomes 2							119.0	127.0	125.0					9																	106882359		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106882359A>G	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2048A>G	9.37:g.106882359A>G	ENSP00000286398:p.Asp683Gly		Somatic				SMC2_ENST00000374787.3_Missense_Mutation_p.D683G|SMC2_ENST00000303219.8_Missense_Mutation_p.D683G|SMC2_ENST00000374793.3_Missense_Mutation_p.D683G	p.D683G	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	WXS	Illumina GAIIx	Phase_I	O95347	SMC2_HUMAN			16	2336	+			683					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.2048A>G	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	A	15.11	2.735843	0.49045	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05	5.43	-6.04	0.02178	SMCs flexible hinge (1);	0.442457	0.26673	N	0.023091	T	0.57844	0.2081	N	0.08118	0	0.35799	D	0.822962	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13282	-1.0515	10	0.41790	T	0.15	-1.4856	0.2897	0.00257	0.3613:0.222:0.2009:0.2158	.	683;683	O95347;Q2KQ72	SMC2_HUMAN;.	G	683	ENSP00000286398:D683G;ENSP00000363925:D683G;ENSP00000306152:D683G;ENSP00000363919:D683G	ENSP00000286398:D683G	D	+	2	0	SMC2	105922180	0.983000	0.35010	0.982000	0.44146	0.990000	0.78478	0.728000	0.26013	-0.620000	0.05641	-0.446000	0.05623	GAT		0.413	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			8	110	8	110	---	---	---	---
SPAG6	9576	broad.mit.edu	37	10	22657474	22657474	+	Missense_Mutation	SNP	T	T	G			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr10:22657474T>G	ENST00000376624.3	+	4	481	c.339T>G	c.(337-339)caT>caG	p.H113Q	RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.H88Q|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000376603.2_Missense_Mutation_p.H189Q|SPAG6_ENST00000313311.6_Missense_Mutation_p.H113Q	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	113					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TTGGTAAACATTCTCCCCAGC	0.458																																						ENST00000376603.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						c.(565-567)caT>caG		sperm associated antigen 6							116.0	108.0	111.0					10																	22657474		2203	4300	6503	SO:0001583	missense	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22657474T>G	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.339T>G	10.37:g.22657474T>G	ENSP00000365811:p.His113Gln		Somatic				SPAG6_ENST00000313311.6_Missense_Mutation_p.H113Q|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.H88Q|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000376624.3_Missense_Mutation_p.H113Q	p.H189Q			WXS	Illumina GAIIx	Phase_I	O75602	SPAG6_HUMAN			4	709	+			113					A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	c.567T>G	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.429664	0.83776	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000538630;ENST00000313311;ENST00000435326	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;0.64	5.7	-8.69	0.00855	Armadillo-like helical (1);Armadillo-type fold (1);	0.136180	0.64402	D	0.000002	T	0.79753	0.4500	M	0.93197	3.39	0.54753	D	0.999985	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.85130	0.993;0.991;0.997;0.996	D	0.86680	0.1916	10	0.87932	D	0	-15.0322	16.54	0.84383	0.0:0.63:0.0:0.37	.	88;189;113;113	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	Q	113;189;88;113;189	ENSP00000365811:H113Q;ENSP00000365788:H189Q;ENSP00000441325:H88Q;ENSP00000323599:H113Q;ENSP00000406594:H189Q	ENSP00000323599:H113Q	H	+	3	2	SPAG6	22697480	0.281000	0.24258	0.477000	0.27303	0.994000	0.84299	-0.462000	0.06704	-1.841000	0.01183	-0.250000	0.11733	CAT		0.458	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			30	42	30	42	---	---	---	---
JMJD1C	221037	broad.mit.edu	37	10	64968481	64968481	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr10:64968481C>G	ENST00000399262.2	-	10	3166	c.2948G>C	c.(2947-2949)aGg>aCg	p.R983T	JMJD1C_ENST00000542921.1_Missense_Mutation_p.R801T|JMJD1C_ENST00000399251.1_Missense_Mutation_p.R764T|JMJD1C_ENST00000402544.1_Missense_Mutation_p.R764T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	983					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGTCTGTGACCTATTTAGATC	0.393																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(2947-2949)aGg>aCg		jumonji domain containing 1C							106.0	98.0	101.0					10																	64968481		1882	4119	6001	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64968481C>G	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.2948G>C	10.37:g.64968481C>G	ENSP00000382204:p.Arg983Thr		Somatic				JMJD1C_ENST00000399251.1_Missense_Mutation_p.R764T|JMJD1C_ENST00000542921.1_Missense_Mutation_p.R801T|JMJD1C_ENST00000402544.1_Missense_Mutation_p.R764T	p.R983T	NM_032776.1	NP_116165.1	WXS	Illumina GAIIx	Phase_I	Q15652	JHD2C_HUMAN			10	3166	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		983					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.2948G>C	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380516	0.82792	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.63096	0.32;-0.02;1.84;0.33	5.31	5.31	0.75309	.	0.051950	0.64402	D	0.000001	T	0.72112	0.3420	M	0.62723	1.935	0.47476	D	0.999431	D;D;D	0.58620	0.983;0.967;0.967	P;P;P	0.57324	0.818;0.636;0.614	T	0.74166	-0.3753	10	0.72032	D	0.01	-14.1715	14.1329	0.65266	0.0:0.9269:0.0:0.0731	.	524;983;801	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	T	983;764;764;801	ENSP00000382204:R983T;ENSP00000384990:R764T;ENSP00000382195:R764T;ENSP00000444682:R801T	ENSP00000382195:R764T	R	-	2	0	JMJD1C	64638487	0.997000	0.39634	1.000000	0.80357	0.966000	0.64601	3.684000	0.54671	2.854000	0.98071	0.655000	0.94253	AGG		0.393	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		33	45	33	45	---	---	---	---
ECD	11319	broad.mit.edu	37	10	74916082	74916082	+	Missense_Mutation	SNP	T	T	G			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr10:74916082T>G	ENST00000372979.4	-	5	747	c.541A>C	c.(541-543)Ata>Cta	p.I181L	ECD_ENST00000430082.2_Missense_Mutation_p.I181L|ECD_ENST00000610256.1_5'Flank|ECD_ENST00000454759.2_Missense_Mutation_p.I181L	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	181					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					GAAGCAAGTATTTTTTCTGAA	0.403																																						ENST00000372979.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(541-543)Ata>Cta		ecdysoneless homolog (Drosophila)							141.0	136.0	137.0					10																	74916082		2203	4300	6503	SO:0001583	missense	11319				regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity	g.chr10:74916082T>G	BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.541A>C	10.37:g.74916082T>G	ENSP00000362070:p.Ile181Leu		Somatic				ECD_ENST00000454759.2_Missense_Mutation_p.I181L|ECD_ENST00000430082.2_Missense_Mutation_p.I181L	p.I181L	NM_007265.2	NP_009196.1	WXS	Illumina GAIIx	Phase_I	O95905	SGT1_HUMAN			5	747	-	Prostate(51;0.0119)		181					C9JX46|E9PAW8	Missense_Mutation	SNP	ENST00000372979.4	37	c.541A>C	CCDS7321.1	.	.	.	.	.	.	.	.	.	.	T	5.178	0.218349	0.09810	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000454759;ENST00000453402;ENST00000413026	T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47	5.78	2.28	0.28536	.	0.193727	0.53938	D	0.000045	T	0.05181	0.0138	N	0.04275	-0.24	0.21020	N	0.999803	B;B;B	0.25206	0.12;0.071;0.029	B;B;B	0.26614	0.071;0.033;0.048	T	0.40664	-0.9551	10	0.05351	T	0.99	-12.0251	3.6827	0.08316	0.1651:0.2481:0.0:0.5867	.	181;181;181	E9PAW8;C9JX46;O95905	.;.;SGT1_HUMAN	L	181;181;181;107;155	ENSP00000362070:I181L;ENSP00000401566:I181L;ENSP00000395786:I181L;ENSP00000391367:I107L;ENSP00000416288:I155L	ENSP00000362070:I181L	I	-	1	0	ECD	74586088	0.997000	0.39634	0.940000	0.37924	0.306000	0.27790	2.621000	0.46418	0.159000	0.19401	-0.256000	0.11100	ATA		0.403	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265		11	72	11	72	---	---	---	---
DPYSL4	10570	broad.mit.edu	37	10	134016313	134016313	+	Missense_Mutation	SNP	T	T	G			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr10:134016313T>G	ENST00000338492.4	+	12	1609	c.1445T>G	c.(1444-1446)aTc>aGc	p.I482S	DPYSL4_ENST00000368627.1_Intron|DPYSL4_ENST00000368629.1_Intron	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	482					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TACAAGAGGATCAAAGCTCGC	0.632																																						ENST00000338492.4																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1444-1446)aTc>aGc		dihydropyrimidinase-like 4							52.0	60.0	57.0					10																	134016313		2203	4300	6503	SO:0001583	missense	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134016313T>G	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.1445T>G	10.37:g.134016313T>G	ENSP00000339850:p.Ile482Ser		Somatic				DPYSL4_ENST00000368629.1_Intron|DPYSL4_ENST00000368627.1_Intron	p.I482S	NM_006426.2	NP_006417.2	WXS	Illumina GAIIx	Phase_I	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	12	1609	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	482					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	c.1445T>G	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.219674	0.79464	.	.	ENSG00000151640	ENST00000338492	D	0.85955	-2.05	4.07	4.07	0.47477	Metal-dependent hydrolase, composite domain (1);	0.054356	0.64402	D	0.000001	D	0.91116	0.7203	M	0.75264	2.295	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.92161	0.5736	10	0.72032	D	0.01	-12.7109	13.5726	0.61856	0.0:0.0:0.0:1.0	.	482	O14531	DPYL4_HUMAN	S	482	ENSP00000339850:I482S	ENSP00000339850:I482S	I	+	2	0	DPYSL4	133866303	1.000000	0.71417	0.986000	0.45419	0.762000	0.43233	5.644000	0.67902	1.843000	0.53566	0.529000	0.55759	ATC		0.632	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			22	45	22	45	---	---	---	---
OVCH1	341350	broad.mit.edu	37	12	29649132	29649132	+	Missense_Mutation	SNP	C	C	A			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr12:29649132C>A	ENST00000318184.5	-	3	262	c.263G>T	c.(262-264)tGc>tTc	p.C88F		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	88	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GCTGTCCAGGCAGTGTGCTGC	0.463																																						ENST00000318184.5																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(262-264)tGc>tTc		ovochymase 1							77.0	78.0	78.0					12																	29649132		2024	4199	6223	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29649132C>A	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.263G>T	12.37:g.29649132C>A	ENSP00000326708:p.Cys88Phe		Somatic					p.C88F	NM_183378.2	NP_899234.2	WXS	Illumina GAIIx	Phase_I	Q7RTY7	OVCH1_HUMAN			3	262	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		88			Peptidase S1 1.			Missense_Mutation	SNP	ENST00000318184.5	37	c.263G>T		.	.	.	.	.	.	.	.	.	.	C	11.88	1.770537	0.31320	.	.	ENSG00000187950	ENST00000318184	D	0.98090	-4.71	2.82	1.88	0.25563	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.98950	0.9643	H	0.97682	4.055	0.25870	N	0.983721	D	0.71674	0.998	D	0.69824	0.966	D	0.94511	0.7718	9	0.87932	D	0	.	7.5195	0.27620	0.0:0.732:0.268:0.0	.	88	Q7RTY7	OVCH1_HUMAN	F	88	ENSP00000326708:C88F	ENSP00000326708:C88F	C	-	2	0	OVCH1	29540399	0.999000	0.42202	0.728000	0.30774	0.689000	0.40095	2.062000	0.41413	0.713000	0.32060	0.655000	0.94253	TGC		0.463	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		3	2	3	2	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39264479	39264479	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr13:39264479C>T	ENST00000280481.7	+	1	3214	c.2998C>T	c.(2998-3000)Cca>Tca	p.P1000S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1000					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAATGGCATTCCAGCAGAGCA	0.438																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(2998-3000)Cca>Tca		FRAS1 related extracellular matrix protein 2							137.0	140.0	139.0					13																	39264479		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39264479C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2998C>T	13.37:g.39264479C>T	ENSP00000280481:p.Pro1000Ser		Somatic					p.P1000S	NM_207361.4	NP_997244.3	WXS	Illumina GAIIx	Phase_I	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	3214	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1000					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.2998C>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.532966	0.27387	.	.	ENSG00000150893	ENST00000280481	T	0.28895	1.59	5.79	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.32466	0.0830	M	0.64567	1.98	0.80722	D	1	B	0.26975	0.165	B	0.23275	0.045	T	0.06899	-1.0801	10	0.36615	T	0.2	.	14.9625	0.71166	0.0:0.9314:0.0:0.0686	.	1000	Q5SZK8	FREM2_HUMAN	S	1000	ENSP00000280481:P1000S	ENSP00000280481:P1000S	P	+	1	0	FREM2	38162479	1.000000	0.71417	0.997000	0.53966	0.586000	0.36452	4.942000	0.63547	1.461000	0.47929	0.650000	0.86243	CCA		0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		4	88	4	88	---	---	---	---
TRAV26-1	28657	broad.mit.edu	37	14	22592021	22592021	+	RNA	SNP	A	A	G			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr14:22592021A>G	ENST00000390455.3	+	0	315									T cell receptor alpha variable 26-1																		AAGAGCTGCAAACCTGCCTTG	0.458																																						ENST00000390455.3																			0																				113.0	116.0	115.0					14																	22592021		1978	4169	6147			28657							g.chr14:22592021A>G	AE000660		14q11.2	2012-02-07			ENSG00000211807	ENSG00000211807		"""T cell receptors / TRA locus"""	12123	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170654		14.37:g.22592021A>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	315	+									RNA	SNP	ENST00000390455.3	37																																																																																						0.458	TRAV26-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409902.1	NG_001332		14	78	14	78	---	---	---	---
PYGL	5836	broad.mit.edu	37	14	51383369	51383369	+	Silent	SNP	G	G	C			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr14:51383369G>C	ENST00000216392.7	-	9	1415	c.1083C>G	c.(1081-1083)ccC>ccG	p.P361P	PYGL_ENST00000532462.1_Silent_p.P361P|PYGL_ENST00000544180.2_Silent_p.P327P	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	361					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	CCTTGGACCAGGGCAGTTTTT	0.453																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(1081-1083)ccC>ccG		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						106.0	106.0	106.0					14																	51383369		2203	4300	6503	SO:0001819	synonymous_variant	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51383369G>C		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1083C>G	14.37:g.51383369G>C			Somatic				PYGL_ENST00000544180.2_Silent_p.P327P|PYGL_ENST00000532462.1_Silent_p.P361P	p.P361P	NM_002863.4	NP_002854.3	WXS	Illumina GAIIx	Phase_I	P06737	PYGL_HUMAN			9	1415	-	all_epithelial(31;0.00825)|Breast(41;0.148)		361					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	ENST00000216392.7	37	c.1083C>G	CCDS32080.1																																																																																				0.453	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		11	32	11	32	---	---	---	---
MEIS2	4212	broad.mit.edu	37	15	37388558	37388558	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr15:37388558C>G	ENST00000561208.1	-	3	737	c.319G>C	c.(319-321)Gga>Cga	p.G107R	MEIS2_ENST00000444725.1_Missense_Mutation_p.G107R|MEIS2_ENST00000340545.5_Missense_Mutation_p.G94R|MEIS2_ENST00000338564.5_Missense_Mutation_p.G107R|MEIS2_ENST00000424352.2_Missense_Mutation_p.G107R|MEIS2_ENST00000397620.2_Missense_Mutation_p.G19R|MEIS2_ENST00000219869.9_Intron|MEIS2_ENST00000557796.2_Missense_Mutation_p.G94R|MEIS2_ENST00000382766.2_Missense_Mutation_p.G107R|RP11-128A17.1_ENST00000559509.1_RNA|MEIS2_ENST00000397624.3_Missense_Mutation_p.G19R|MEIS2_ENST00000559085.1_Missense_Mutation_p.G94R|MEIS2_ENST00000559561.1_Missense_Mutation_p.G107R			O14770	MEIS2_HUMAN	Meis homeobox 2	107	Required for interaction with PBX1. {ECO:0000250}.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CCAGCCACTCCAGGTTCCCGG	0.612																																						ENST00000338564.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(319-321)Gga>Cga		Meis homeobox 2							43.0	42.0	42.0					15																	37388558		2201	4297	6498	SO:0001583	missense	4212				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr15:37388558C>G	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.319G>C	15.37:g.37388558C>G	ENSP00000453793:p.Gly107Arg		Somatic				MEIS2_ENST00000561208.1_Missense_Mutation_p.G107R|MEIS2_ENST00000444725.1_Missense_Mutation_p.G107R|MEIS2_ENST00000397620.2_Missense_Mutation_p.G19R|MEIS2_ENST00000219869.9_Intron|MEIS2_ENST00000557796.2_Missense_Mutation_p.G94R|MEIS2_ENST00000382766.2_Missense_Mutation_p.G107R|MEIS2_ENST00000397624.3_Missense_Mutation_p.G19R|MEIS2_ENST00000424352.2_Missense_Mutation_p.G107R|MEIS2_ENST00000559085.1_Missense_Mutation_p.G94R|MEIS2_ENST00000559561.1_Missense_Mutation_p.G107R|MEIS2_ENST00000340545.5_Missense_Mutation_p.G94R	p.G107R	NM_001220482.1	NP_001207411.1	WXS	Illumina GAIIx	Phase_I	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	4	765	-		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)	107					A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	c.319G>C	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	C	34	5.315881	0.95655	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620	T;T;T;T;T;T;T	0.32753	1.6;1.44;1.44;1.6;1.6;1.6;1.6	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.58032	0.2094	M	0.70275	2.135	0.80722	D	1	P;P;D;P;D;P;P	0.89917	0.913;0.889;0.996;0.889;1.0;0.751;0.913	P;P;D;P;D;P;P	0.97110	0.536;0.516;0.944;0.637;1.0;0.467;0.655	T	0.59490	-0.7445	10	0.66056	D	0.02	-30.7355	19.4891	0.95042	0.0:1.0:0.0:0.0	.	94;107;107;107;107;19;94	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KPQ6;B3KP98	.;.;MEIS2_HUMAN;.;.;.;.	R	107;107;107;107;107;94;94;19	ENSP00000326296:G107R;ENSP00000341400:G107R;ENSP00000372216:G107R;ENSP00000404185:G107R;ENSP00000391887:G107R;ENSP00000339549:G94R;ENSP00000380745:G19R	ENSP00000326296:G107R	G	-	1	0	MEIS2	35175850	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.790000	0.85794	2.600000	0.87896	0.650000	0.86243	GGA		0.612	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		8	33	8	33	---	---	---	---
DNM1P46	196968	broad.mit.edu	37	15	100331760	100331760	+	RNA	SNP	G	G	A			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr15:100331760G>A	ENST00000341853.1	-	0	2431				RN7SL484P_ENST00000462651.2_RNA|AC090825.1_ENST00000408584.1_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										CCCCACAGGAGATAGAGGAGG	0.627																																						ENST00000341853.1																			0																				62.0	63.0	63.0					15																	100331760		876	1991	2867			196968							g.chr15:100331760G>A	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100331760G>A			Somatic						NR_003260.1		WXS	Illumina GAIIx	Phase_I					0	2431	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.627	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		12	21	12	21	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7576851	7576851	+	Splice_Site	SNP	A	A	C			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr17:7576851A>C	ENST00000269305.4	-	9	1183		c.e9+1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(12)|p.0?(8)|p.I332fs*49(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AAGACTTAGTACCTGAAGGGT	0.463		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		21	Unknown(12)|Whole gene deletion(8)|Insertion - Frameshift(1)	p.?(12)|p.0?(8)|p.I332fs*49(1)	haematopoietic_and_lymphoid_tissue(5)|bone(4)|central_nervous_system(3)|lung(3)|stomach(2)|upper_aerodigestive_tract(1)|breast(1)|ovary(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e9+1	Other conserved DNA damage response genes	tumor protein p53							116.0	109.0	111.0					17																	7576851		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576851A>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.993+1T>G	17.37:g.7576851A>C		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic				TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Intron		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1126	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.209202	0.39003	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000419024	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2161	0.43168	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517576	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	4.743000	0.62110	1.993000	0.58246	0.459000	0.35465	.		0.463	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	13	13	13	13	---	---	---	---
SIN3B	23309	broad.mit.edu	37	19	16962337	16962337	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr19:16962337C>T	ENST00000248054.5	+	6	862	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S	SIN3B_ENST00000596802.1_Missense_Mutation_p.P281S|SIN3B_ENST00000379803.1_Missense_Mutation_p.P281S					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGTGTCTGCACCCGCCAAGGT	0.677																																						ENST00000379803.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(841-843)Ccc>Tcc		SIN3 transcription regulator family member B																																				SO:0001583	missense	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16962337C>T	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.841C>T	19.37:g.16962337C>T	ENSP00000248054:p.Pro281Ser		Somatic				SIN3B_ENST00000596802.1_Missense_Mutation_p.P281S|SIN3B_ENST00000248054.5_Missense_Mutation_p.P281S	p.P281S	NM_015260.2	NP_056075.1	WXS	Illumina GAIIx	Phase_I	O75182	SIN3B_HUMAN			6	855	+			281						Missense_Mutation	SNP	ENST00000248054.5	37	c.841C>T		.	.	.	.	.	.	.	.	.	.	C	16.07	3.017819	0.54576	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.48201	0.82;0.92	5.13	5.13	0.70059	.	0.240117	0.43579	D	0.000545	T	0.51890	0.1701	L	0.46157	1.445	0.45366	D	0.998356	P;B;P	0.48503	0.911;0.017;0.814	P;B;B	0.54590	0.756;0.009;0.372	T	0.40979	-0.9534	10	0.07990	T	0.79	-30.3416	15.7081	0.77602	0.0:1.0:0.0:0.0	.	281;281;281	O75182-2;O75182;O75182-3	.;SIN3B_HUMAN;.	S	281	ENSP00000369131:P281S;ENSP00000248054:P281S	ENSP00000248054:P281S	P	+	1	0	SIN3B	16823337	0.982000	0.34865	0.071000	0.20095	0.270000	0.26580	5.249000	0.65427	2.391000	0.81399	0.655000	0.94253	CCC		0.677	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		13	31	13	31	---	---	---	---
AKT2	208	broad.mit.edu	37	19	40745988	40745988	+	Silent	SNP	G	G	A			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr19:40745988G>A	ENST00000392038.2	-	7	901	c.603C>T	c.(601-603)agC>agT	p.S201S	AKT2_ENST00000424901.1_Silent_p.S201S|AKT2_ENST00000579047.1_Silent_p.S139S|AKT2_ENST00000311278.6_Silent_p.S201S	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	201	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GGAGGACCCGGCTCTCGGTGA	0.632			A		"""ovarian, pancreatic """																																	ENST00000392038.2				Dom	yes		19	19q13.1-q13.2	208	A	v-akt murine thymoma viral oncogene homolog 2			E			"""ovarian, pancreatic """		0				breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27						c.(601-603)agC>agT		v-akt murine thymoma viral oncogene homolog 2							188.0	178.0	181.0					19																	40745988		2203	4300	6503	SO:0001819	synonymous_variant	208				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:40745988G>A	M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.603C>T	19.37:g.40745988G>A			Somatic				AKT2_ENST00000311278.6_Silent_p.S201S|AKT2_ENST00000579047.1_Silent_p.S139S|AKT2_ENST00000424901.1_Silent_p.S201S	p.S201S	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	WXS	Illumina GAIIx	Phase_I	P31751	AKT2_HUMAN	Lung(22;0.000499)		7	901	-			201			Protein kinase.		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Silent	SNP	ENST00000392038.2	37	c.603C>T	CCDS12552.1																																																																																				0.632	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626		7	169	7	169	---	---	---	---
RSPH3	83861	broad.mit.edu	37	6	159420666	159420667	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr6:159420666_159420667insT	ENST00000252655.1	-	1	531_532	c.342_343insA	c.(340-345)ttacatfs	p.H115fs	RSPH3_ENST00000297262.3_Frame_Shift_Ins_p.H115fs|RP1-111C20.4_ENST00000606470.1_RNA|RSPH3_ENST00000367069.2_5'UTR|RSPH3_ENST00000449822.1_5'UTR|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	115										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		CCGGAGAGATGTAAGTAGTGCC	0.634																																						ENST00000252655.1																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23						c.(340-345)ttacatfs		radial spoke 3 homolog (Chlamydomonas)																																				SO:0001589	frameshift_variant	83861							g.chr6:159420666_159420667insT	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"""radial spokehead-like 2"""	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.343dupA	6.37:g.159420667_159420667dupT	ENSP00000252655:p.His115fs		Somatic				RSPH3_ENST00000297262.3_Frame_Shift_Ins_p.H115fs|RSPH3_ENST00000367069.2_5'UTR|RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000449822.1_5'UTR	p.H115fs	NM_031924.4	NP_114130.3	WXS	Illumina GAIIx	Phase_I	Q86UC2	RSPH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)	1	531_532	-		Breast(66;0.00519)|Ovarian(120;0.123)	115					Q96LQ5|Q96LX2|Q9BX75	Frame_Shift_Ins	INS	ENST00000252655.1	37	c.342_343insA	CCDS5260.1																																																																																				0.634	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		33	56	33	56	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49431090	49431105	+	Frame_Shift_Del	DEL	ACCATAGCCATGGATG	ACCATAGCCATGGATG	-	rs368118089|rs80149580	byFrequency	TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr12:49431090_49431105delACCATAGCCATGGATG	ENST00000301067.7	-	34	10033_10048	c.10034_10049delCATCCATGGCTATGGT	c.(10033-10050)ccatccatggctatggtgfs	p.PSMAMV3345fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3345	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.M3079T(1)									TTGATTGGACACCATAGCCATGGATGGAGCCAGGCG	0.616																																						ENST00000301067.7																			1	Substitution - Missense(1)	p.M3079T(1)	kidney(1)								c.(10033-10050)ccatccatggctatggtgfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49431090_49431105delACCATAGCCATGGATG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10034_10049delCATCCATGGCTATGGT	12.37:g.49431090_49431105delACCATAGCCATGGATG	ENSP00000301067:p.Pro3345fs		Somatic					p.PSMAMV3345fs	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					34	10033_10048	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.10034_10049delCATCCATGGCTATGGT	CCDS44873.1																																																																																				0.616	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			9	17	9	17	---	---	---	---
