#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
EMC1	23065	broad.mit.edu	37	1	19549914	19549914	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:19549914G>A	ENST00000477853.1	-	19	2394	c.2352C>T	c.(2350-2352)atC>atT	p.I784I	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000480380.1_5'Flank|EMC1_ENST00000375208.3_Silent_p.I762I|EMC1_ENST00000375199.3_Silent_p.I783I	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	784						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)		p.I784I(1)									CTGAATGCACGATATGGACAG	0.537																																						uc001bbo.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(2350-2352)ATC>ATT		hypothetical protein LOC23065 precursor							268.0	231.0	244.0					1																	19549914		2203	4300	6503	SO:0001819	synonymous_variant	23065					integral to membrane	protein binding	g.chr1:19549914G>A		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2352C>T	1.37:g.19549914G>A						KIAA0090_uc001bbn.2_5'Flank|KIAA0090_uc001bbp.2_Silent_p.I783I|KIAA0090_uc001bbq.2_Silent_p.I783I|KIAA0090_uc001bbr.2_Silent_p.I762I	p.I784I	NM_015047	NP_055862	Q8N766	K0090_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)	19	2395	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)	784			DUF1620.|Extracellular (Potential).		A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Silent	SNP	ENST00000477853.1	37	c.2352C>T	CCDS190.1	.	.	.	.	.	.	.	.	.	.	G	8.189	0.795509	0.16327	.	.	ENSG00000127463	ENST00000375197	.	.	.	5.69	-4.12	0.03916	.	.	.	.	.	T	0.62502	0.2433	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62440	-0.6854	4	.	.	.	-18.7869	13.7423	0.62855	0.5245:0.0:0.4755:0.0	.	.	.	.	C	518	.	.	R	-	1	0	KIAA0090	19422501	0.021000	0.18746	0.866000	0.34008	0.871000	0.50021	-0.813000	0.04491	-0.694000	0.05113	-0.448000	0.05591	CGT		0.537	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2		NM_015047		8	281	0	0	0	0.004482	0	8	281		
COL9A2	1298	broad.mit.edu	37	1	40766912	40766912	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:40766912C>G	ENST00000372748.3	-	32	2108	c.2012G>C	c.(2011-2013)gGa>gCa	p.G671A	COL9A2_ENST00000466267.1_5'Flank	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	671	Nonhelical region 1 (NC1).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.G671A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGCCGAAGCTCCAAGGCAGGC	0.677																																						uc001cfh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(2011-2013)GGA>GCA		alpha 2 type IX collagen precursor							34.0	39.0	38.0					1																	40766912		2203	4300	6503	SO:0001583	missense	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40766912C>G	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.2012G>C	1.37:g.40766912C>G	ENSP00000361834:p.Gly671Ala					COL9A2_uc001cfi.1_Missense_Mutation_p.G490A	p.G671A	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		32	2082	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	671			Nonhelical region 1 (NC1).		B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	c.2012G>C	CCDS450.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043074	0.36085	.	.	ENSG00000049089	ENST00000372748	D	0.89875	-2.58	5.38	3.44	0.39384	.	0.053971	0.64402	D	0.000001	T	0.75895	0.3912	N	0.05078	-0.115	0.35761	D	0.82017	B	0.33212	0.402	B	0.29267	0.1	T	0.76110	-0.3079	10	0.38643	T	0.18	.	13.5034	0.61471	0.0:0.5414:0.4586:0.0	.	671	Q14055	CO9A2_HUMAN	A	671	ENSP00000361834:G671A	ENSP00000361834:G671A	G	-	2	0	COL9A2	40539499	0.996000	0.38824	0.991000	0.47740	0.994000	0.84299	2.182000	0.42556	0.595000	0.29777	0.561000	0.74099	GGA		0.677	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3		NM_001852		22	34	0	0	0	0.016522	0	22	34		
SLC6A9	6536	broad.mit.edu	37	1	44474107	44474107	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:44474107G>A	ENST00000360584.2	-	5	918	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W	SLC6A9_ENST00000475075.2_Missense_Mutation_p.R59W|SLC6A9_ENST00000372310.3_Missense_Mutation_p.R170W|SLC6A9_ENST00000372306.3_Missense_Mutation_p.R170W|SLC6A9_ENST00000492434.2_5'Flank|SLC6A9_ENST00000372307.3_Missense_Mutation_p.R105W|SLC6A9_ENST00000357730.2_Missense_Mutation_p.R189W|SLC6A9_ENST00000537678.1_Missense_Mutation_p.R105W	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	243					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.R170W(1)|p.R243W(1)		endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GCGGCTGGCCGAGAGCCATTG	0.642																																						uc001cll.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(727-729)CGG>TGG		solute carrier family 6 member 9 isoform 2	Glycine(DB00145)						97.0	99.0	98.0					1																	44474107		2203	4300	6503	SO:0001583	missense	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44474107G>A	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.727C>T	1.37:g.44474107G>A	ENSP00000353791:p.Arg243Trp					SLC6A9_uc009vxe.2_Missense_Mutation_p.R99W|SLC6A9_uc010okm.1_Missense_Mutation_p.R170W|SLC6A9_uc001clm.2_Missense_Mutation_p.R189W|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.R174W|SLC6A9_uc001cln.2_Missense_Mutation_p.R170W|SLC6A9_uc010oko.1_Missense_Mutation_p.R59W|SLC6A9_uc010okp.1_RNA	p.R243W	NM_201649	NP_964012	P48067	SC6A9_HUMAN			5	919	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	243			Extracellular (Potential).		A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	ENST00000360584.2	37	c.727C>T	CCDS41317.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934615	0.52866	.	.	ENSG00000196517	ENST00000372307;ENST00000372306;ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730;ENST00000537678	T;T;T;T;T;T;T	0.77229	-1.08;-0.93;-0.82;-0.86;-0.86;-0.84;-1.02	5.73	3.82	0.43975	.	1.345120	0.04549	N	0.389603	T	0.72755	0.3500	N	0.02916	-0.46	0.30591	N	0.761564	P;P;D;P;B;D	0.67145	0.876;0.945;0.99;0.813;0.001;0.996	P;B;P;P;B;P	0.61658	0.471;0.062;0.892;0.663;0.001;0.663	T	0.68450	-0.5405	10	0.51188	T	0.08	.	9.1767	0.37116	0.0891:0.183:0.7279:0.0	.	174;170;105;170;189;243	B7Z3W8;B7Z8W5;B7Z3A9;P48067-2;P48067-3;P48067	.;.;.;.;.;SC6A9_HUMAN	W	105;170;170;59;243;189;105	ENSP00000361381:R105W;ENSP00000361380:R170W;ENSP00000361384:R170W;ENSP00000434460:R59W;ENSP00000353791:R243W;ENSP00000350362:R189W;ENSP00000442523:R105W	ENSP00000350362:R189W	R	-	1	2	SLC6A9	44246694	0.244000	0.23889	0.988000	0.46212	0.662000	0.39071	0.449000	0.21744	1.446000	0.47643	0.650000	0.86243	CGG		0.642	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2		NM_201649		15	111	0	0	0	0.006122	0	15	111		
HSPB11	51668	broad.mit.edu	37	1	54395807	54395807	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:54395807G>A	ENST00000194214.5	-	3	499	c.110C>T	c.(109-111)aCg>aTg	p.T37M	HSPB11_ENST00000371376.1_Missense_Mutation_p.T37M|HSPB11_ENST00000489675.1_5'Flank|HSPB11_ENST00000371377.3_Missense_Mutation_p.T37M|HSPB11_ENST00000371378.2_Missense_Mutation_p.T37M	NM_016126.2	NP_057210.2	Q9Y547	IFT25_HUMAN	heat shock protein family B (small), member 11	37					cell adhesion (GO:0007155)|heart development (GO:0007507)|left/right axis specification (GO:0070986)|lung development (GO:0030324)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle B (GO:0030992)	metal ion binding (GO:0046872)	p.T37M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						GGTCCAAAACGTTTCTGGATT	0.284																																						uc001cwh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(109-111)ACG>ATG		heat shock protein family B (small), member 11							82.0	76.0	77.0					1																	54395807		1789	4056	5845	SO:0001583	missense	51668				cell adhesion|response to stress			g.chr1:54395807G>A	AF100747	CCDS41341.1	1p32	2014-02-21	2008-06-24	2008-06-24	ENSG00000081870	ENSG00000081870		"""Intraflagellar transport homologs"", ""Heat shock proteins / HSPB"""	25019	protein-coding gene	gene with protein product	"""intraflagellar transport 25 homolog (Chlamydomonas)"""		"""chromosome 1 open reading frame 41"""	C1orf41		11042152, 19253336	Standard	NM_016126		Approved	HSPCO34, PP25, IFT25	uc001cwh.3	Q9Y547	OTTHUMG00000008408	ENST00000194214.5:c.110C>T	1.37:g.54395807G>A	ENSP00000194214:p.Thr37Met					HSPB11_uc001cwi.1_Missense_Mutation_p.T37M	p.T37M	NM_016126	NP_057210	Q9Y547	HSB11_HUMAN			3	186	-			37					A6NG57|D3DQ45|Q9Y684	Missense_Mutation	SNP	ENST00000194214.5	37	c.110C>T	CCDS41341.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.180895	0.57800	.	.	ENSG00000081870	ENST00000194214;ENST00000371378;ENST00000371377;ENST00000371376	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	5.96	5.96	0.96718	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.049929	0.85682	D	0.000000	D	0.96068	0.8719	M	0.81942	2.565	0.47994	D	0.999567	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96097	0.9066	10	0.87932	D	0	1.3382	15.9014	0.79380	0.0:0.0:1.0:0.0	.	37;37	A6NIR2;Q9Y547	.;HSB11_HUMAN	M	37	ENSP00000194214:T37M;ENSP00000360429:T37M;ENSP00000360428:T37M;ENSP00000360427:T37M	ENSP00000194214:T37M	T	-	2	0	HSPB11	54168395	1.000000	0.71417	0.996000	0.52242	0.419000	0.31324	5.895000	0.69814	2.833000	0.97629	0.591000	0.81541	ACG		0.284	HSPB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023114.1		NM_016126		49	76	0	0	0	0.01441	0	49	76		
ITGA10	8515	broad.mit.edu	37	1	145534100	145534100	+	Silent	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:145534100C>G	ENST00000369304.3	+	14	1780	c.1605C>G	c.(1603-1605)ctC>ctG	p.L535L	ITGA10_ENST00000538811.1_Silent_p.L404L|ITGA10_ENST00000539363.1_Silent_p.L392L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	535					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.L535L(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGCTGACCCTCCAAGGAACAC	0.532																																						uc001eoa.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8						c.(1603-1605)CTC>CTG		integrin, alpha 10 precursor							108.0	113.0	111.0					1																	145534100		2203	4300	6503	SO:0001819	synonymous_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145534100C>G	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1605C>G	1.37:g.145534100C>G						NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Silent_p.L404L|ITGA10_uc009wiw.2_Silent_p.L392L|ITGA10_uc010oyw.1_Silent_p.L480L	p.L535L	NM_003637	NP_003628	O75578	ITA10_HUMAN			14	1681	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		535			Extracellular (Potential).|FG-GAP 6.		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Silent	SNP	ENST00000369304.3	37	c.1605C>G	CCDS918.1																																																																																				0.532	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2		NM_003637		43	175	0	0	0	0.011902	0	43	175		
S100A8	6279	broad.mit.edu	37	1	153362976	153362976	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:153362976G>A	ENST00000368733.3	-	2	205	c.36C>T	c.(34-36)atC>atT	p.I12I	S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Silent_p.I12I	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	12	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|acute inflammatory response (GO:0002526)|autophagy (GO:0006914)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|wound healing (GO:0042060)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)	p.I12I(1)		breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGACGTCGATGATAGAGTTCA	0.493																																						uc001fbs.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(34-36)ATC>ATT		S100 calcium-binding protein A8							183.0	183.0	183.0					1																	153362976		2203	4300	6503	SO:0001819	synonymous_variant	6279				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding	g.chr1:153362976G>A	BC005928	CCDS1038.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000143546	ENSG00000143546		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10498	protein-coding gene	gene with protein product		123885	"""S100 calcium-binding protein A8 (calgranulin A)"", ""S100 calcium binding protein A8 (calgranulin A)"""	CAGA, CFAG			Standard	NM_002964		Approved	P8, MRP8, 60B8AG, CGLA	uc001fbs.3	P05109	OTTHUMG00000013124	ENST00000368733.3:c.36C>T	1.37:g.153362976G>A							p.I12I	NM_002964	NP_002955	P05109	S10A8_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	91	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		12			EF-hand 1.		A8K5L3|D3DV37|Q5SY70|Q9UC84|Q9UC92|Q9UCJ0|Q9UCM6	Silent	SNP	ENST00000368733.3	37	c.36C>T	CCDS1038.1																																																																																				0.493	S100A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036791.1		NM_002964		64	231	0	0	0	0.01441	0	64	231		
CCT3	7203	broad.mit.edu	37	1	156281973	156281973	+	Silent	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:156281973C>G	ENST00000295688.3	-	11	1294	c.1014G>C	c.(1012-1014)ctG>ctC	p.L338L	CCT3_ENST00000368261.3_Silent_p.L293L|CCT3_ENST00000472765.2_Silent_p.L293L|CCT3_ENST00000368259.2_Silent_p.L300L	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	338					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.L338L(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CATCTTCTCTCAGTTCCTCTG	0.478																																						uc001fol.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1012-1014)CTG>CTC		chaperonin containing TCP1, subunit 3 isoform a							89.0	94.0	92.0					1																	156281973		2203	4300	6503	SO:0001819	synonymous_variant	7203				'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	g.chr1:156281973C>G	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.1014G>C	1.37:g.156281973C>G						CCT3_uc001fom.1_Silent_p.L337L|CCT3_uc001fon.1_Silent_p.L300L|CCT3_uc010phj.1_Silent_p.L292L|CCT3_uc010phk.1_Silent_p.L292L|CCT3_uc010phl.1_Silent_p.L292L	p.L338L	NM_005998	NP_005989	P49368	TCPG_HUMAN			11	1234	-	Hepatocellular(266;0.158)		338					A6NE14|Q5SZY1|Q9BR64	Silent	SNP	ENST00000295688.3	37	c.1014G>C	CCDS1140.2																																																																																				0.478	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3		NM_005998		31	78	0	0	0	0.012213	0	31	78		
NES	10763	broad.mit.edu	37	1	156647053	156647053	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:156647053C>G	ENST00000368223.3	-	1	136	c.4G>C	c.(4-6)Gag>Cag	p.E2Q		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	2	Head.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.E2Q(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGCAGCCCTCCATCCTGCTC	0.627																																						uc001fpq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)	6						c.(4-6)GAG>CAG		nestin							11.0	13.0	12.0					1																	156647053		1960	4060	6020	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156647053C>G	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.4G>C	1.37:g.156647053C>G	ENSP00000357206:p.Glu2Gln						p.E2Q	NM_006617	NP_006608	P48681	NEST_HUMAN			1	137	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		2			Head.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.4G>C	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575734	0.86645	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	D	0.89343	-2.5	4.97	3.99	0.46301	.	.	.	.	.	T	0.81074	0.4747	N	0.19112	0.55	0.31061	N	0.714088	D	0.64830	0.994	P	0.59221	0.854	T	0.72693	-0.4216	9	0.12430	T	0.62	.	13.4897	0.61388	0.0:0.8419:0.1581:0.0	.	2	P48681	NEST_HUMAN	Q	2	ENSP00000357206:E2Q	ENSP00000255024:E2Q	E	-	1	0	NES	154913677	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.606000	0.36826	2.261000	0.74972	0.462000	0.41574	GAG		0.627	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2		NM_006617		4	33	0	0	0	0.009096	0	4	33		
PVRL4	81607	broad.mit.edu	37	1	161047356	161047356	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:161047356G>A	ENST00000368012.3	-	3	919	c.617C>T	c.(616-618)tCa>tTa	p.S206L	PVRL4_ENST00000453926.2_5'Flank	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	206	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S206L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GTGGAACTCTGAGGTGACGGC	0.622																																					NSCLC(76;1160 1387 14476 16172 29359)	uc001fxo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(616-618)TCA>TTA		poliovirus receptor-related 4 precursor							105.0	92.0	96.0					1																	161047356		2203	4300	6503	SO:0001583	missense	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161047356G>A	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.617C>T	1.37:g.161047356G>A	ENSP00000356991:p.Ser206Leu					PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_5'Flank	p.S206L	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		3	916	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		206			Ig-like C2-type 1.|Extracellular (Potential).		B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	c.617C>T	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529268	0.85706	.	.	ENSG00000143217	ENST00000368012	D	0.84516	-1.86	5.5	5.5	0.81552	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.139613	0.33477	N	0.004863	D	0.88415	0.6430	M	0.73430	2.235	0.80722	D	1	D	0.57571	0.98	P	0.59487	0.858	D	0.89632	0.3856	10	0.72032	D	0.01	.	12.6042	0.56514	0.0:0.1668:0.8332:0.0	.	206	Q96NY8	PVRL4_HUMAN	L	206	ENSP00000356991:S206L	ENSP00000356991:S206L	S	-	2	0	PVRL4	159313980	0.973000	0.33851	0.924000	0.36721	0.783000	0.44284	2.604000	0.46274	2.580000	0.87095	0.555000	0.69702	TCA		0.622	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1		NM_030916		53	424	0	0	0	0.01441	0	53	424		
FMO2	2327	broad.mit.edu	37	1	171154946	171154946	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:171154946G>C	ENST00000209929.7	+	2	252	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	FMO2_ENST00000529935.1_Intron|FMO2_ENST00000441535.1_Missense_Mutation_p.E32Q			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	32					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.E32Q(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CACTTGCTTTGAGAGAACTGA	0.463																																						uc001ghk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(94-96)GAG>CAG		flavin containing monooxygenase 2							257.0	245.0	249.0					1																	171154946		2203	4300	6503	SO:0001583	missense	2327				drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171154946G>C	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.94G>C	1.37:g.171154946G>C	ENSP00000209929:p.Glu32Gln					FMO2_uc010pmd.1_Intron	p.E32Q	NM_001460	NP_001451	Q99518	FMO2_HUMAN			2	211	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		32					Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	c.94G>C	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	G	34	5.293350	0.95546	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	D;D	0.81908	-1.55;-1.55	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.95815	0.8638	H	0.99806	4.795	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97873	1.0287	10	0.87932	D	0	-27.4871	18.5129	0.90923	0.0:0.0:1.0:0.0	.	32	Q99518	FMO2_HUMAN	Q	32	ENSP00000209929:E32Q;ENSP00000405905:E32Q	ENSP00000209929:E32Q	E	+	1	0	FMO2	169421570	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.368000	0.97152	2.656000	0.90262	0.655000	0.94253	GAG		0.463	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2		NM_001460		43	157	0	0	0	0.013114	0	43	157		
SUCO	51430	broad.mit.edu	37	1	172558229	172558229	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:172558229A>T	ENST00000263688.3	+	18	2207	c.1988A>T	c.(1987-1989)cAa>cTa	p.Q663L	SUCO_ENST00000608151.1_Missense_Mutation_p.Q815L|SUCO_ENST00000610051.1_Intron|SUCO_ENST00000367723.4_Missense_Mutation_p.Q814L	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	663					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)		p.Q815L(1)|p.Q663L(1)									GTGTTAGCTCAACCACCCTTA	0.398																																						uc001giq.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)	2						c.(1987-1989)CAA>CTA		chromosome 1 open reading frame 9 protein							86.0	87.0	87.0					1																	172558229		2203	4299	6502	SO:0001583	missense	51430				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane		g.chr1:172558229A>T	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1988A>T	1.37:g.172558229A>T	ENSP00000263688:p.Gln663Leu					C1orf9_uc010pmm.1_Missense_Mutation_p.Q663L|C1orf9_uc009wwd.2_Missense_Mutation_p.Q619L|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_RNA	p.Q663L	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)	18	2304	+		Breast(1374;0.212)	663					B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	c.1988A>T	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	A	8.328	0.825885	0.16749	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.26	1.55	0.23275	.	0.417644	0.25130	N	0.032919	T	0.14013	0.0339	M	0.62723	1.935	0.27712	N	0.945435	B;B;B	0.28713	0.22;0.014;0.014	B;B;B	0.26864	0.074;0.028;0.02	T	0.21861	-1.0233	9	0.26408	T	0.33	0.0177	3.3555	0.07168	0.6452:0.1424:0.0761:0.1363	.	663;815;663	B4DZJ3;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	L	815;663	.	ENSP00000263688:Q663L	Q	+	2	0	C1orf9	170824852	0.372000	0.25064	0.003000	0.11579	0.284000	0.27059	2.192000	0.42649	0.005000	0.14708	-0.490000	0.04691	CAA		0.398	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1		NM_016227		5	45	0	0	0	0.001168	0	5	45		
LAMC2	3918	broad.mit.edu	37	1	183209495	183209495	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:183209495C>T	ENST00000264144.4	+	22	3362	c.3297C>T	c.(3295-3297)ctC>ctT	p.L1099L	LAMC2_ENST00000461729.1_3'UTR|LAMC2_ENST00000493293.1_Silent_p.L1099L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1099	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.L1099L(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AAGACACACTCAACACATTAG	0.498																																						uc001gqa.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(3295-3297)CTC>CTT		laminin, gamma 2 isoform a precursor							133.0	106.0	115.0					1																	183209495		2203	4300	6503	SO:0001819	synonymous_variant	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183209495C>T	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.3297C>T	1.37:g.183209495C>T						LAMC2_uc001gpz.3_Silent_p.L1099L|LAMC2_uc010poa.1_Silent_p.L799L	p.L1099L	NM_005562	NP_005553	Q13753	LAMC2_HUMAN			22	3611	+			1099			Domain II and I.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Silent	SNP	ENST00000264144.4	37	c.3297C>T	CCDS1352.1																																																																																				0.498	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1		NM_005562		9	53	0	0	0	0.004482	0	9	53		
NVL	4931	broad.mit.edu	37	1	224492852	224492852	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:224492852G>C	ENST00000281701.6	-	7	891	c.632C>G	c.(631-633)tCt>tGt	p.S211C	NVL_ENST00000361463.3_Missense_Mutation_p.S105C|NVL_ENST00000391875.2_Missense_Mutation_p.S105C|NVL_ENST00000340871.4_5'UTR|RNU6-1008P_ENST00000384160.1_RNA|NVL_ENST00000469075.1_Missense_Mutation_p.S120C|NVL_ENST00000482491.1_5'UTR	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	211						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.S211C(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CTCCAAAAGAGAAGAATCTTT	0.318																																						uc001hok.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)	2						c.(631-633)TCT>TGT		nuclear VCP-like isoform 1							127.0	110.0	116.0					1																	224492852		2203	4300	6503	SO:0001583	missense	4931					aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	g.chr1:224492852G>C	U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.632C>G	1.37:g.224492852G>C	ENSP00000281701:p.Ser211Cys					NVL_uc001hol.2_Missense_Mutation_p.S105C|NVL_uc010pvd.1_Missense_Mutation_p.S120C|NVL_uc010pve.1_5'UTR|NVL_uc010pvf.1_RNA	p.S211C	NM_002533	NP_002524	O15381	NVL_HUMAN		GBM - Glioblastoma multiforme(131;0.00501)	7	675	-			211					B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	ENST00000281701.6	37	c.632C>G	CCDS1541.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.18|16.18	3.050759|3.050759	0.55218|0.55218	.|.	.|.	ENSG00000143748|ENSG00000143748	ENST00000469968|ENST00000281701;ENST00000391875;ENST00000469075;ENST00000361463;ENST00000492281;ENST00000488718;ENST00000436927	.|D;D;D;D	.|0.95724	.|-3.73;-3.79;-3.68;-3.79	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	.|0.115096	.|0.64402	.|D	.|0.000008	D|D	0.97318|0.97318	0.9123|0.9123	M|M	0.70275|0.70275	2.135|2.135	0.54753|0.54753	D|D	0.999988|0.999988	.|D;D	.|0.89917	.|0.994;1.0	.|P;D	.|0.68192	.|0.667;0.956	D|D	0.98115|0.98115	1.0422|1.0422	5|10	.|0.87932	.|D	.|0	-15.143|-15.143	18.2235|18.2235	0.89909|0.89909	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|120;211	.|B4DP98;O15381	.|.;NVL_HUMAN	L|C	93|211;105;120;105;116;120;107	.|ENSP00000281701:S211C;ENSP00000375747:S105C;ENSP00000417826:S120C;ENSP00000354779:S105C	.|ENSP00000281701:S211C	F|S	-|-	3|2	2|0	NVL|NVL	222559475|222559475	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.891000|0.891000	0.51852|0.51852	6.299000|6.299000	0.72770|0.72770	2.287000|2.287000	0.76781|0.76781	0.561000|0.561000	0.74099|0.74099	TTC|TCT		0.318	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2		NM_002533		29	60	0	0	0	0.007291	0	29	60		
SDCCAG8	10806	broad.mit.edu	37	1	243471361	243471361	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:243471361C>G	ENST00000366541.3	+	8	929	c.811C>G	c.(811-813)Ctg>Gtg	p.L271V	SDCCAG8_ENST00000391846.1_Missense_Mutation_p.L271V|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.L126V|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.L228V	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	271	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)		p.L271V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		AGAATTTCTTCTGGCTGCTAA	0.368																																						uc001hzw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(811-813)CTG>GTG		serologically defined colon cancer antigen 8							180.0	162.0	168.0					1																	243471361		2203	4300	6503	SO:0001583	missense	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243471361C>G	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.811C>G	1.37:g.243471361C>G	ENSP00000355499:p.Leu271Val					SDCCAG8_uc010pyk.1_Missense_Mutation_p.L126V|SDCCAG8_uc010pyl.1_Missense_Mutation_p.L83V|SDCCAG8_uc001hzx.2_Missense_Mutation_p.L83V	p.L271V	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	8	967	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	271			Potential.|Sufficient for homodimerization (By similarity).		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	c.811C>G	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	C	9.242	1.038614	0.19669	.	.	ENSG00000054282	ENST00000355875;ENST00000391846;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	5.6	2.42	0.29668	.	0.362447	0.29002	N	0.013450	T	0.13114	0.0318	L	0.29908	0.895	0.28636	N	0.907439	B;B	0.17268	0.021;0.003	B;B	0.14023	0.009;0.01	T	0.22068	-1.0227	10	0.18276	T	0.48	-0.0987	9.2676	0.37650	0.2348:0.4673:0.2979:0.0	.	228;271	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	V	228;271;271;126;51	ENSP00000348137:L228V;ENSP00000375721:L271V;ENSP00000355499:L271V;ENSP00000341260:L126V;ENSP00000410200:L51V	ENSP00000341260:L126V	L	+	1	2	SDCCAG8	241537984	0.294000	0.24380	0.999000	0.59377	0.922000	0.55478	0.076000	0.14712	0.771000	0.33359	0.650000	0.86243	CTG		0.368	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1		NM_006642		90	91	0	0	0	0.01441	0	90	91		
OR2T6	254879	broad.mit.edu	37	1	248551039	248551039	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:248551039G>A	ENST00000355728.2	+	1	130	c.130G>A	c.(130-132)Gtc>Atc	p.V44I		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V44I(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCTAATGGGGTCATGATCTT	0.468																																						uc001iei.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(130-132)GTC>ATC		olfactory receptor, family 2, subfamily T,							218.0	180.0	193.0					1																	248551039		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551039G>A	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.130G>A	1.37:g.248551039G>A	ENSP00000347965:p.Val44Ile						p.V44I	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	130	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		44			Helical; Name=1; (Potential).		A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.130G>A	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	G	1.737	-0.492598	0.04322	.	.	ENSG00000198104	ENST00000355728	T	0.19394	2.15	4.38	0.99	0.19807	GPCR, rhodopsin-like superfamily (1);	0.191627	0.25783	N	0.028325	T	0.07279	0.0184	N	0.04297	-0.235	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.38178	-0.9673	10	0.14252	T	0.57	.	6.3932	0.21599	0.2007:0.3837:0.4156:0.0	.	44	Q8NHC8	OR2T6_HUMAN	I	44	ENSP00000347965:V44I	ENSP00000347965:V44I	V	+	1	0	OR2T6	246617662	0.000000	0.05858	0.305000	0.25099	0.159000	0.22180	-1.089000	0.03376	0.085000	0.17107	-0.162000	0.13425	GTC		0.468	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1		NM_001005471		20	82	0	0	0	0.008871	0	20	82		
ADAMTS14	140766	broad.mit.edu	37	10	72520559	72520559	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr10:72520559G>C	ENST00000373207.1	+	22	3622	c.3622G>C	c.(3622-3624)Gac>Cac	p.D1208H	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.D1211H	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1208	Pro-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D1211H(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ACCTGGAGAAGACCTGAGACA	0.642																																						uc001jrh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(3622-3624)GAC>CAC		ADAM metallopeptidase with thrombospondin type 1							60.0	57.0	58.0					10																	72520559		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72520559G>C	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.3622G>C	10.37:g.72520559G>C	ENSP00000362303:p.Asp1208His					ADAMTS14_uc001jrg.2_Missense_Mutation_p.D1211H	p.D1208H	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN			22	3622	+			1208			Pro-rich.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.3622G>C	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744337	0.49151	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.63417	-0.04;-0.01	4.7	4.7	0.59300	.	0.635768	0.12060	N	0.503215	T	0.55816	0.1944	L	0.27053	0.805	0.21499	N	0.999665	P;P	0.41041	0.736;0.736	B;B	0.44163	0.443;0.443	T	0.51560	-0.8690	10	0.51188	T	0.08	.	13.3272	0.60467	0.0:0.0:1.0:0.0	.	1208;1211	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	H	1211;1208	ENSP00000362304:D1211H;ENSP00000362303:D1208H	ENSP00000362303:D1208H	D	+	1	0	ADAMTS14	72190565	0.988000	0.35896	0.904000	0.35570	0.019000	0.09904	3.071000	0.50041	2.586000	0.87340	0.563000	0.77884	GAC		0.642	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1		NM_080722		34	89	0	0	0	0.015359	0	34	89		
ADK	132	broad.mit.edu	37	10	76285071	76285071	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr10:76285071G>A	ENST00000286621.2	+	7	663	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	RP11-46O21.2_ENST00000595410.1_RNA|RP11-46O21.2_ENST00000448214.3_RNA|ADK_ENST00000541550.1_Missense_Mutation_p.E170K|ADK_ENST00000372734.3_Missense_Mutation_p.E188K|RP11-46O21.2_ENST00000609392.1_RNA|ADK_ENST00000539909.1_Intron	NM_006721.3	NP_006712.2	P55263	ADK_HUMAN	adenosine kinase	205					adenosine metabolic process (GO:0046085)|AMP salvage (GO:0044209)|circadian regulation of gene expression (GO:0032922)|dATP biosynthetic process (GO:0006175)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of T cell proliferation (GO:0042102)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenosine kinase activity (GO:0004001)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|poly(A) RNA binding (GO:0044822)	p.E205K(1)		breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Abacavir(DB01048)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Ribavirin(DB00811)	CCATGCTTCTGAAAACAACAG	0.368																																						uc001jwi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(613-615)GAA>AAA		adenosine kinase isoform b	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Pegademase bovine(DB00061)|Ribavirin(DB00811)						157.0	158.0	157.0					10																	76285071		2203	4300	6503	SO:0001583	missense	132				purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor	g.chr10:76285071G>A	U50196	CCDS7343.1, CCDS7344.1, CCDS55716.1, CCDS55717.1	10q22.2	2006-02-21			ENSG00000156110	ENSG00000156110	2.7.1.20		257	protein-coding gene	gene with protein product	"""adenosine 5'-phosphotransferase"""	102750				8577746	Standard	NM_001123		Approved	AK	uc001jwi.3	P55263	OTTHUMG00000018506	ENST00000286621.2:c.613G>A	10.37:g.76285071G>A	ENSP00000286621:p.Glu205Lys					ADK_uc010qlb.1_Intron|ADK_uc001jwj.2_Missense_Mutation_p.E188K|ADK_uc010qlc.1_Missense_Mutation_p.E170K|ADK_uc001jwl.2_5'UTR	p.E205K	NM_006721	NP_006712	P55263	ADK_HUMAN			7	685	+	Prostate(51;0.0112)|Ovarian(15;0.148)		205					B7Z783|B7Z800|O00741|O00742|Q16710|Q5JQ10|Q5JQ11|Q9BTN2	Missense_Mutation	SNP	ENST00000286621.2	37	c.613G>A	CCDS7343.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303356	0.81136	.	.	ENSG00000156110	ENST00000286621;ENST00000372734;ENST00000541550	D;D;D	0.88046	-2.33;-2.33;-2.33	6.03	6.03	0.97812	Carbohydrate/purine kinase (1);	0.189001	0.56097	D	0.000037	D	0.87672	0.6236	M	0.63169	1.94	0.80722	D	1	B;B;B	0.27656	0.184;0.174;0.001	B;B;B	0.31946	0.138;0.103;0.026	T	0.82928	-0.0214	10	0.33141	T	0.24	-8.344	20.5752	0.99366	0.0:0.0:1.0:0.0	.	170;188;205	B7Z800;Q5JQ10;P55263	.;.;ADK_HUMAN	K	205;188;170	ENSP00000286621:E205K;ENSP00000361819:E188K;ENSP00000438321:E170K	ENSP00000286621:E205K	E	+	1	0	ADK	75955077	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.420000	0.97426	2.868000	0.98415	0.557000	0.71058	GAA		0.368	ADK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048763.1		NM_001123, NM_006721		87	207	0	0	0	0.01441	0	87	207		
GALNT18	374378	broad.mit.edu	37	11	11394086	11394086	+	Silent	SNP	G	G	A	rs373710256		TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr11:11394086G>A	ENST00000227756.4	-	6	1479	c.1068C>T	c.(1066-1068)ggC>ggT	p.G356G		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	356	Catalytic subdomain B.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.G356G(1)									CCACATTCTCGCCCCCGTAGA	0.602																																						uc001mjo.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1066-1068)GGC>GGT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							99.0	79.0	86.0					11																	11394086		2201	4294	6495	SO:0001819	synonymous_variant	374378					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr11:11394086G>A	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1068C>T	11.37:g.11394086G>A							p.G356G	NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN		all cancers(16;3.67e-05)|Epithelial(150;0.000184)	6	1489	-			356			Lumenal (Potential).|Catalytic subdomain B.		O95903|Q8NDY9	Silent	SNP	ENST00000227756.4	37	c.1068C>T	CCDS7807.1																																																																																				0.602	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1		NM_198516		6	57	0	0	0	0.001984	0	6	57		
OR8H1	219469	broad.mit.edu	37	11	56058521	56058521	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr11:56058521G>T	ENST00000313022.2	-	1	45	c.18C>A	c.(16-18)aaC>aaA	p.N6K		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N6K(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GCACATTTGTGTTATTTCTTC	0.358																																						uc010rje.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(16-18)AAC>AAA		olfactory receptor, family 8, subfamily H,							88.0	84.0	85.0					11																	56058521		2201	4296	6497	SO:0001583	missense	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058521G>T	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.18C>A	11.37:g.56058521G>T	ENSP00000323595:p.Asn6Lys						p.N6K	NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN			1	18	-	Esophageal squamous(21;0.00448)		6			Extracellular (Potential).		B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	c.18C>A	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	G	5.225	0.226948	0.09916	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.00469	7.21	3.77	0.468	0.16732	.	1.002060	0.08046	N	0.995921	T	0.00271	0.0008	N	0.13168	0.305	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25779	-1.0122	10	0.27785	T	0.31	.	5.7782	0.18292	0.1862:0.2784:0.5354:0.0	.	6	Q8NGG4	OR8H1_HUMAN	K	6;2	ENSP00000323595:N6K	ENSP00000323595:N6K	N	-	3	2	OR8H1	55815097	0.000000	0.05858	0.015000	0.15790	0.005000	0.04900	-0.848000	0.04326	0.349000	0.23975	0.579000	0.79373	AAC		0.358	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1		NM_001005199		28	115	1	0	3.73988e-18	0.00632	4.21274e-18	28	115		
CCDC88B	283234	broad.mit.edu	37	11	64123092	64123092	+	Missense_Mutation	SNP	A	A	G	rs564327746	byFrequency	TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr11:64123092A>G	ENST00000356786.5	+	26	4411	c.4367A>G	c.(4366-4368)aAc>aGc	p.N1456S	CCDC88B_ENST00000359902.2_Missense_Mutation_p.T561A|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_Missense_Mutation_p.N119S	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1456						membrane (GO:0016020)		p.N1456S(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACAGATGCCAACCGAGAGGGT	0.577													A|||	2	0.000399361	0.0015	0.0	5008	,	,		18692	0.0		0.0	False		,,,				2504	0.0					uc001nzy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(4366-4368)AAC>AGC		coiled-coil domain containing 88							76.0	62.0	67.0					11																	64123092		2201	4297	6498	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64123092A>G	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.4367A>G	11.37:g.64123092A>G	ENSP00000349238:p.Asn1456Ser					CCDC88B_uc001oaa.2_Missense_Mutation_p.T561A|CCDC88B_uc001oab.1_Missense_Mutation_p.N340S|CCDC88B_uc001oac.2_Missense_Mutation_p.T72A	p.N1456S	NM_032251	NP_115627	A6NC98	CC88B_HUMAN			26	4411	+			1456					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.4367A>G	CCDS8072.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	11.69|11.69	1.713734|1.713734	0.30413|0.30413	.|.	.|.	ENSG00000168071|ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000301897|ENST00000359902	T|T	0.22336|0.51325	1.96|0.71	3.95|3.95	-4.88|-4.88	0.03113|0.03113	.|.	.|.	.|.	.|.	.|.	T|T	0.23133|0.23133	0.0559|0.0559	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B|B	0.09022|0.06786	0.002|0.001	B|B	0.04013|0.04013	0.001|0.001	T|T	0.25847|0.25847	-1.0120|-1.0120	9|9	0.36615|0.15499	T|T	0.2|0.54	.|.	7.5199|7.5199	0.27622|0.27622	0.2818:0.1663:0.5519:0.0|0.2818:0.1663:0.5519:0.0	.|.	1456|545	A6NC98|A6NC98-5	CC88B_HUMAN|.	S|A	1338;1456;119|561	ENSP00000349238:N1456S|ENSP00000352974:T561A	ENSP00000301897:N119S|ENSP00000352974:T561A	N|T	+|+	2|1	0|0	CCDC88B|CCDC88B	63879668|63879668	0.000000|0.000000	0.05858|0.05858	0.010000|0.010000	0.14722|0.14722	0.876000|0.876000	0.50452|0.50452	-0.986000|-0.986000	0.03747|0.03747	-1.322000|-1.322000	0.02278|0.02278	-0.389000|-0.389000	0.06534|0.06534	AAC|ACC		0.577	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1		NM_032251		8	49	0	0	0	0.004482	0	8	49		
SIPA1	6494	broad.mit.edu	37	11	65417472	65417472	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr11:65417472C>A	ENST00000394224.3	+	13	3094	c.2798C>A	c.(2797-2799)tCg>tAg	p.S933*	SIPA1_ENST00000527525.1_Nonsense_Mutation_p.S831*|SIPA1_ENST00000394227.3_Nonsense_Mutation_p.S831*|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000534313.1_Nonsense_Mutation_p.S933*	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	933					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)	p.S933*(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CAGGCCATCTCGGAGATTGCC	0.647																																						uc001ofb.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(2797-2799)TCG>TAG		signal-induced proliferation-associated protein							69.0	74.0	72.0					11																	65417472		2201	4297	6498	SO:0001587	stop_gained	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65417472C>A	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.2798C>A	11.37:g.65417472C>A	ENSP00000377771:p.Ser933*					SIPA1_uc010rom.1_Nonsense_Mutation_p.S831*|SIPA1_uc001ofd.2_Nonsense_Mutation_p.S933*	p.S933*	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN			13	2965	+			933					O14518|O60484|O60618|Q2YD83	Nonsense_Mutation	SNP	ENST00000394224.3	37	c.2798C>A	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	C	37	6.628532	0.97718	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	.	.	.	4.26	4.26	0.50523	.	0.630102	0.11853	U	0.523172	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-7.0242	12.1843	0.54229	0.0:1.0:0.0:0.0	.	.	.	.	X	933;831;933;831	.	ENSP00000377771:S933X	S	+	2	0	SIPA1	65174048	0.998000	0.40836	0.867000	0.34043	0.094000	0.18550	5.781000	0.68964	1.929000	0.55896	0.297000	0.19635	TCG		0.647	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1		NM_006747		5	76	1	0	0.000602214	0.014758	0.000634592	5	76		
TSKU	25987	broad.mit.edu	37	11	76506922	76506922	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr11:76506922G>A	ENST00000527881.1	+	2	1288	c.262G>A	c.(262-264)Ggc>Agc	p.G88S	TSKU_ENST00000333090.4_Missense_Mutation_p.G88S			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	88					anterior commissure morphogenesis (GO:0021960)|ciliary body morphogenesis (GO:0061073)|corpus callosum morphogenesis (GO:0021540)|lateral ventricle development (GO:0021670)|negative regulation of Wnt signaling pathway (GO:0030178)|regulation of gene expression (GO:0010468)	extracellular space (GO:0005615)		p.G88S(1)		NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GACGTTGGCTGGCCTGGATCT	0.627																																						uc001oxt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(262-264)GGC>AGC		tsukushin precursor							69.0	52.0	58.0					11																	76506922		2200	4292	6492	SO:0001583	missense	25987					extracellular region		g.chr11:76506922G>A	AK075476	CCDS8246.1	11q13.5	2012-12-05	2012-12-05	2006-11-21	ENSG00000182704	ENSG00000182704			28850	protein-coding gene	gene with protein product		608015	"""leucine rich repeat containing 54"", ""tsukushin"", ""tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)"""	LRRC54		11085516, 19710929, 22880013	Standard	NM_001258210		Approved	E2IG4, TSK	uc031qcw.1	Q8WUA8		ENST00000527881.1:c.262G>A	11.37:g.76506922G>A	ENSP00000434847:p.Gly88Ser						p.G88S	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN			2	434	+	Ovarian(111;0.112)		88			LRR 2.		B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	Missense_Mutation	SNP	ENST00000527881.1	37	c.262G>A	CCDS8246.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538012	0.27475	.	.	ENSG00000182704	ENST00000533752;ENST00000333090;ENST00000439807;ENST00000525167;ENST00000527881	T;T;T;T	0.54479	0.57;0.57;4.42;0.57	5.24	4.33	0.51752	.	0.094225	0.64402	D	0.000001	T	0.17323	0.0416	N	0.00742	-1.23	0.36318	D	0.858068	B	0.26318	0.146	B	0.26770	0.073	T	0.23404	-1.0189	10	0.15952	T	0.53	-34.215	6.047	0.19766	0.2464:0.0:0.7536:0.0	.	88	Q8WUA8	TSK_HUMAN	S	88	ENSP00000435133:G88S;ENSP00000332668:G88S;ENSP00000434873:G88S;ENSP00000434847:G88S	ENSP00000332668:G88S	G	+	1	0	TSKU	76184570	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	6.278000	0.72614	2.435000	0.82474	0.650000	0.86243	GGC		0.627	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382871.1		NM_015516		8	70	0	0	0	0.004482	0	8	70		
GRIA4	2893	broad.mit.edu	37	11	105774631	105774631	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr11:105774631G>C	ENST00000530497.1	+	7	977	c.977G>C	c.(976-978)gGa>gCa	p.G326A	GRIA4_ENST00000428631.2_Missense_Mutation_p.G326A|GRIA4_ENST00000393125.2_Missense_Mutation_p.G326A|GRIA4_ENST00000393127.2_Missense_Mutation_p.G326A|GRIA4_ENST00000282499.5_Missense_Mutation_p.G326A|GRIA4_ENST00000525187.1_Missense_Mutation_p.G326A			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	326					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.G326A(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		TCAAGGAGAGGAAATGCTGGG	0.443																																						uc001pix.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(976-978)GGA>GCA		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						115.0	116.0	116.0					11																	105774631		2202	4299	6501	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105774631G>C	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.977G>C	11.37:g.105774631G>C	ENSP00000435775:p.Gly326Ala					GRIA4_uc001piu.1_Missense_Mutation_p.G326A|GRIA4_uc001piw.2_Missense_Mutation_p.G326A|GRIA4_uc009yxk.1_Missense_Mutation_p.G326A	p.G326A	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	8	1423	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	326			Extracellular (Potential).		Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.977G>C	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660049	0.88154	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	D;D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58;-1.58	5.73	5.73	0.89815	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	D	0.88746	0.6520	L	0.46741	1.465	0.80722	D	1	B;D;P	0.76494	0.442;0.999;0.612	B;D;B	0.81914	0.19;0.995;0.165	D	0.85764	0.1351	10	0.32370	T	0.25	.	20.2699	0.98469	0.0:0.0:1.0:0.0	.	326;326;326	P48058;G3V164;Q86XE8	GRIA4_HUMAN;.;.	A	326	ENSP00000376833:G326A;ENSP00000282499:G326A;ENSP00000376835:G326A;ENSP00000415551:G326A;ENSP00000435775:G326A;ENSP00000432180:G326A	ENSP00000282499:G326A	G	+	2	0	GRIA4	105279841	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.081000	0.71309	2.854000	0.98071	0.655000	0.94253	GGA		0.443	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1				45	68	0	0	0	0.009718	0	45	68		
SPATS2	65244	broad.mit.edu	37	12	49888683	49888683	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr12:49888683G>A	ENST00000553127.1	+	8	937	c.424G>A	c.(424-426)Gag>Aag	p.E142K	SPATS2_ENST00000321898.6_Missense_Mutation_p.E142K|SPATS2_ENST00000552557.1_3'UTR|SPATS2_ENST00000552918.1_Missense_Mutation_p.E142K			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	142						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E142K(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						CAATGACACTGAGTCTGTGGA	0.468																																						uc001rud.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(424-426)GAG>AAG		spermatogenesis associated, serine-rich 2							97.0	83.0	88.0					12																	49888683		2203	4300	6503	SO:0001583	missense	65244					cytoplasm		g.chr12:49888683G>A	AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.424G>A	12.37:g.49888683G>A	ENSP00000448228:p.Glu142Lys					SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Missense_Mutation_p.E142K|SPATS2_uc001ruf.2_Missense_Mutation_p.E142K|SPATS2_uc001rug.2_Missense_Mutation_p.E142K	p.E142K	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN			7	1413	+			142					A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	ENST00000553127.1	37	c.424G>A	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	G	35	5.428161	0.96131	.	.	ENSG00000123352	ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	5.58	5.58	0.84498	.	0.045909	0.85682	D	0.000000	T	0.79137	0.4395	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78940	-0.2006	8	.	.	.	-6.1721	17.06	0.86544	0.0:0.0:1.0:0.0	.	142	Q86XZ4	SPAS2_HUMAN	K	142	.	.	E	+	1	0	SPATS2	48174950	1.000000	0.71417	0.961000	0.40146	0.982000	0.71751	7.562000	0.82300	2.608000	0.88229	0.655000	0.94253	GAG		0.468	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1		NM_023071		21	57	0	0	0	0.008871	0	21	57		
SPATS2	65244	broad.mit.edu	37	12	49888713	49888713	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr12:49888713G>A	ENST00000553127.1	+	8	967	c.454G>A	c.(454-456)Gag>Aag	p.E152K	SPATS2_ENST00000321898.6_Missense_Mutation_p.E152K|SPATS2_ENST00000552557.1_3'UTR|SPATS2_ENST00000552918.1_Missense_Mutation_p.E152K			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	152						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E152K(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						TGAAGGTTTGGAGACACTTTC	0.453																																						uc001rud.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(454-456)GAG>AAG		spermatogenesis associated, serine-rich 2							97.0	88.0	91.0					12																	49888713		2203	4300	6503	SO:0001583	missense	65244					cytoplasm		g.chr12:49888713G>A	AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.454G>A	12.37:g.49888713G>A	ENSP00000448228:p.Glu152Lys					SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Missense_Mutation_p.E152K|SPATS2_uc001ruf.2_Missense_Mutation_p.E152K|SPATS2_uc001rug.2_Missense_Mutation_p.E152K	p.E152K	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN			7	1443	+			152					A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	ENST00000553127.1	37	c.454G>A	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387476	0.82902	.	.	ENSG00000123352	ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	5.34	5.34	0.76211	.	0.047503	0.85682	D	0.000000	T	0.74160	0.3680	M	0.63843	1.955	0.80722	D	1	D	0.58268	0.982	P	0.60949	0.881	T	0.73802	-0.3868	8	.	.	.	-18.1026	16.5345	0.84369	0.0:0.0:1.0:0.0	.	152	Q86XZ4	SPAS2_HUMAN	K	152	.	.	E	+	1	0	SPATS2	48174980	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.562000	0.82300	2.492000	0.84095	0.655000	0.94253	GAG		0.453	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1		NM_023071		22	69	0	0	0	0.014323	0	22	69		
OR6C70	390327	broad.mit.edu	37	12	55863607	55863607	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr12:55863607C>T	ENST00000327335.4	-	1	315	c.316G>A	c.(316-318)Ggg>Agg	p.G106R	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G106R(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TCTGTAACCCCCAAGAATATG	0.393																																						uc010spn.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(316-318)GGG>AGG		olfactory receptor, family 6, subfamily C,							69.0	70.0	69.0					12																	55863607		2203	4300	6503	SO:0001583	missense	390327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55863607C>T		CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"""GPCR / Class A : Olfactory receptors"""	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.316G>A	12.37:g.55863607C>T	ENSP00000329153:p.Gly106Arg						p.G106R	NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN			1	316	-			106			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000327335.4	37	c.316G>A	CCDS31825.1	.	.	.	.	.	.	.	.	.	.	C	8.275	0.814138	0.16537	.	.	ENSG00000184954	ENST00000327335	T	0.00301	8.21	4.06	2.21	0.28008	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000120	T	0.00784	0.0026	H	0.97158	3.95	0.09310	N	1	D	0.62365	0.991	D	0.63597	0.916	T	0.40403	-0.9565	10	0.87932	D	0	.	4.6326	0.12509	0.1558:0.5766:0.0:0.2676	.	106	A6NIJ9	O6C70_HUMAN	R	106	ENSP00000329153:G106R	ENSP00000329153:G106R	G	-	1	0	OR6C70	54149874	0.000000	0.05858	0.015000	0.15790	0.003000	0.03518	0.339000	0.19875	0.477000	0.27464	0.655000	0.94253	GGG		0.393	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411820.1				8	52	0	0	0	0.004482	0	8	52		
LRP1	4035	broad.mit.edu	37	12	57596297	57596297	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr12:57596297A>G	ENST00000243077.3	+	68	11154	c.10688A>G	c.(10687-10689)gAc>gGc	p.D3563G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3563	LDL-receptor class A 26. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.D3563G(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GATTGCGGTGACAACTCCGAT	0.652																																						uc001snd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(10687-10689)GAC>GGC		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						65.0	50.0	55.0					12																	57596297		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57596297A>G	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.10688A>G	12.37:g.57596297A>G	ENSP00000243077:p.Asp3563Gly						p.D3563G	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	68	11154	+			3563			LDL-receptor class A 26.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.10688A>G	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.207192	0.79127	.	.	ENSG00000123384	ENST00000243077;ENST00000555124	D;D	0.97642	-4.47;-4.47	5.16	5.16	0.70880	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.98905	0.9629	H	0.96365	3.81	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.99482	1.0948	10	0.66056	D	0.02	.	14.175	0.65534	1.0:0.0:0.0:0.0	.	3563	Q07954	LRP1_HUMAN	G	3563;144	ENSP00000243077:D3563G;ENSP00000451012:D144G	ENSP00000243077:D3563G	D	+	2	0	LRP1	55882564	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	7.296000	0.78790	2.171000	0.68590	0.529000	0.55759	GAC		0.652	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2		NM_002332		3	43	0	0	0	0.004672	0	3	43		
TCP11L2	255394	broad.mit.edu	37	12	106712243	106712243	+	Splice_Site	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr12:106712243G>A	ENST00000299045.3	+	4	588		c.e4+1		TCP11L2_ENST00000547153.1_Splice_Site|TCP11L2_ENST00000546625.1_Splice_Site	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2									p.?(1)		endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						AATCAGAGAGGCAAGTTGCTT	0.448																																						uc001tln.2		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(3)	3						c.e4+1		t-complex 11 (mouse) like 2							131.0	110.0	117.0					12																	106712243		2203	4300	6503	SO:0001630	splice_region_variant	255394							g.chr12:106712243G>A	BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.414+1G>A	12.37:g.106712243G>A						TCP11L2_uc001tll.2_Splice_Site_p.E138_splice|TCP11L2_uc001tlm.2_Splice_Site_p.E138_splice	p.E138_splice	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN			4	588	+								B2RA65|G3V1Y9	Splice_Site	SNP	ENST00000299045.3	37	c.414_splice	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559264	0.86335	.	.	ENSG00000166046	ENST00000547153;ENST00000299045;ENST00000546625;ENST00000553098	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5863	0.91191	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TCP11L2	105236373	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.255000	0.95524	2.562000	0.86427	0.655000	0.94253	.		0.448	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1		NM_152772	Intron	9	128	0	0	0	0.006214	0	9	128		
FAM216A	29902	broad.mit.edu	37	12	110906002	110906002	+	5'Flank	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr12:110906002G>A	ENST00000377673.5	+	0	0				GPN3_ENST00000537466.2_Missense_Mutation_p.R3W|GPN3_ENST00000228827.3_Missense_Mutation_p.R3W|GPN3_ENST00000552180.1_Intron|GPN3_ENST00000543199.1_Intron	NM_013300.2	NP_037432.2	Q8WUB2	F216A_HUMAN	family with sequence similarity 216, member A									p.R3W(1)									TGCGCATACCGAGGCATGTTG	0.637																																						uc001tqr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(7-9)CGG>TGG		GPN-loop GTPase 3 isoform 1							56.0	53.0	54.0					12																	110906002		2203	4300	6503	SO:0001631	upstream_gene_variant	51184					protein complex	GTP binding	g.chr12:110906002G>A	U79274	CCDS31899.1	12q24.11	2012-02-07	2012-02-07	2012-02-07	ENSG00000204856	ENSG00000204856			30180	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 24"""	C12orf24			Standard	NM_013300		Approved	HSU79274	uc001tqu.4	Q8WUB2	OTTHUMG00000169526		12.37:g.110906002G>A	Exception_encountered					GPN3_uc001tqs.2_Missense_Mutation_p.R3W|C12orf24_uc010sxz.1_5'Flank|C12orf24_uc009zvo.2_5'Flank|C12orf24_uc001tqt.2_5'Flank|C12orf24_uc001tqu.3_5'Flank|C12orf24_uc001tqv.3_5'Flank	p.R3W	NM_016301	NP_057385	Q9UHW5	GPN3_HUMAN			1	63	-			3					A6NH30|Q99776	Missense_Mutation	SNP	ENST00000377673.5	37	c.7C>T	CCDS31899.1	.	.	.	.	.	.	.	.	.	.	G	37	6.017967	0.97205	.	.	ENSG00000111231	ENST00000228827;ENST00000537466	T;T	0.27256	1.75;1.68	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.949	T	0.59311	-0.7478	10	0.87932	D	0	-25.7974	20.1775	0.98187	0.0:0.0:1.0:0.0	.	3;3	Q9UHW5-2;Q9UHW5	.;GPN3_HUMAN	W	3	ENSP00000228827:R3W;ENSP00000443068:R3W	ENSP00000228827:R3W	R	-	1	2	GPN3	109390385	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.026000	0.76455	2.771000	0.95319	0.561000	0.74099	CGG		0.637	FAM216A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404616.1		NM_013300		26	88	0	0	0	0.004656	0	26	88		
CLIP1	6249	broad.mit.edu	37	12	122825944	122825944	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr12:122825944C>T	ENST00000540338.1	-	10	1848	c.1807G>A	c.(1807-1809)Gag>Aag	p.E603K	CLIP1_ENST00000302528.7_Missense_Mutation_p.E592K|CLIP1_ENST00000361654.4_Missense_Mutation_p.E557K|CLIP1_ENST00000545889.1_Missense_Mutation_p.E293K|CLIP1_ENST00000537178.1_Missense_Mutation_p.E557K|CLIP1_ENST00000358808.2_Missense_Mutation_p.E592K			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	603					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.E592K(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTCAATGACTCGTTCTCTTTG	0.468																																						uc001ucg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)	3						c.(1807-1809)GAG>AAG		restin isoform a							140.0	130.0	134.0					12																	122825944		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122825944C>T		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1807G>A	12.37:g.122825944C>T	ENSP00000439093:p.Glu603Lys					CLIP1_uc001uch.1_Missense_Mutation_p.E592K|CLIP1_uc001uci.1_Missense_Mutation_p.E557K|CLIP1_uc001ucj.1_Missense_Mutation_p.E293K|CLIP1_uc009zxo.1_Missense_Mutation_p.E159K	p.E603K	NM_002956	NP_002947	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	10	1913	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		603			Potential.		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.1807G>A	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444050	0.83993	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	T;T;T;T;T;T	0.63096	2.53;0.51;0.51;0.53;0.52;-0.02	5.37	4.48	0.54585	.	0.047814	0.85682	N	0.000000	T	0.75273	0.3827	M	0.61703	1.905	0.80722	D	1	P;D;D;D	0.89917	0.719;1.0;1.0;1.0	B;D;D;D	0.78314	0.068;0.991;0.991;0.991	T	0.75616	-0.3256	10	0.42905	T	0.14	-19.0954	14.3188	0.66470	0.0:0.9285:0.0:0.0715	.	293;557;592;603	F5H0N7;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	K	293;592;592;437;557;603;526	ENSP00000438743:E293K;ENSP00000303585:E592K;ENSP00000351665:E592K;ENSP00000445531:E557K;ENSP00000439093:E603K;ENSP00000437786:E526K	ENSP00000303585:E592K	E	-	1	0	CLIP1	121391897	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	5.677000	0.68142	1.400000	0.46741	0.561000	0.74099	GAG		0.468	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1		NM_002956		22	277	0	0	0	0.012319	0	22	277		
HIP1R	9026	broad.mit.edu	37	12	123342728	123342728	+	Missense_Mutation	SNP	C	C	T	rs376717149	byFrequency	TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr12:123342728C>T	ENST00000253083.4	+	19	2020	c.1895C>T	c.(1894-1896)gCg>gTg	p.A632V		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	632					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)	p.A632V(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GCCGAGGCCGCGGGCATCCTG	0.687													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16441	0.0		0.0	False		,,,				2504	0.0					uc001udj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1894-1896)GCG>GTG		huntingtin interacting protein-1-related		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	30.0	37.0	34.0		1895	2.9	0.0	12		34	0,8598		0,0,4299	no	missense	HIP1R	NM_003959.1	64	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	632/1069	123342728	1,13003	2203	4299	6502	SO:0001583	missense	9026				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	g.chr12:123342728C>T	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.1895C>T	12.37:g.123342728C>T	ENSP00000253083:p.Ala632Val					HIP1R_uc001udk.1_5'UTR	p.A632V	NM_003959	NP_003950	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	19	1954	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		632					A6NHQ6|Q6NXG8|Q9UED9	Missense_Mutation	SNP	ENST00000253083.4	37	c.1895C>T	CCDS31922.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.685381	0.29872	2.27E-4	0.0	ENSG00000130787	ENST00000253083	T	0.14022	2.54	5.24	2.9	0.33743	.	0.311919	0.38605	N	0.001625	T	0.08492	0.0211	N	0.22421	0.69	0.09310	N	0.999992	B	0.21452	0.056	B	0.21360	0.034	T	0.31696	-0.9934	10	0.31617	T	0.26	-20.6833	7.7697	0.29001	0.78:0.1463:0.0738:0.0	.	632	O75146	HIP1R_HUMAN	V	632	ENSP00000253083:A632V	ENSP00000253083:A632V	A	+	2	0	HIP1R	121908681	0.997000	0.39634	0.001000	0.08648	0.022000	0.10575	3.767000	0.55288	0.330000	0.23485	-0.397000	0.06425	GCG		0.687	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1		NM_003959		38	19	0	0	0	0.01441	0	38	19		
TPTE2	93492	broad.mit.edu	37	13	20041439	20041439	+	Silent	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr13:20041439G>T	ENST00000400230.2	-	7	482	c.438C>A	c.(436-438)gcC>gcA	p.A146A	TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000382977.4_Silent_p.A146A|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000255310.6_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	146					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A146A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCACAATAATGGCAGTATCTA	0.313																																						uc001umd.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(436-438)GCC>GCA		TPTE and PTEN homologous inositol lipid							35.0	40.0	39.0					13																	20041439		2199	4283	6482	SO:0001819	synonymous_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20041439G>T	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.438C>A	13.37:g.20041439G>T						TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Intron|TPTE2_uc001ume.2_Intron|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA	p.A146A	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	8	649	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	146			Helical; (Potential).		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Silent	SNP	ENST00000400230.2	37	c.438C>A	CCDS45014.1																																																																																				0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_199254		7	51	1	0	1.06961e-07	0.00308	1.16469e-07	7	51		
SACS	26278	broad.mit.edu	37	13	23929791	23929791	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr13:23929791G>A	ENST00000382292.3	-	7	1233	c.960C>T	c.(958-960)gtC>gtT	p.V320V	SACS_ENST00000382298.3_Silent_p.V320V|SACS_ENST00000402364.1_5'UTR|SACS_ENST00000476776.1_5'Flank			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	320					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.V173V(1)|p.V320V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAGCCTCTCGGACATATAAGG	0.443																																						uc001uon.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(958-960)GTC>GTT		sacsin							78.0	80.0	79.0					13																	23929791		2203	4300	6503	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23929791G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.960C>T	13.37:g.23929791G>A						SACS_uc001uoo.2_Silent_p.V173V|SACS_uc001uop.1_Silent_p.V107V|SACS_uc001uoq.1_Silent_p.V173V	p.V320V	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	8	1549	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	320					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.960C>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	2.719	-0.266925	0.05754	.	.	ENSG00000151835	ENST00000455470	.	.	.	5.6	2.74	0.32292	.	.	.	.	.	T	0.54695	0.1874	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47674	-0.9099	4	.	.	.	.	6.5138	0.22236	0.2079:0.2627:0.5294:0.0	.	.	.	.	S	220	.	.	P	-	1	0	SACS	22827791	0.201000	0.23410	0.996000	0.52242	0.335000	0.28730	-0.360000	0.07622	0.753000	0.32945	0.650000	0.86243	CCG		0.443	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3		NM_014363		16	55	0	0	0	0.00499	0	16	55		
BRCA2	675	broad.mit.edu	37	13	32914782	32914782	+	Missense_Mutation	SNP	C	C	T	rs80358866		TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr13:32914782C>T	ENST00000380152.3	+	11	6523	c.6290C>T	c.(6289-6291)aCg>aTg	p.T2097M	BRCA2_ENST00000544455.1_Missense_Mutation_p.T2097M			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2097					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.T2097M(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TATTCACCTACGTCTAGACAA	0.348			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NaN	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		2	Substitution - Missense(2)		urinary_tract(2)	ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(6289-6291)ACG>ATG	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset		C	MET/THR	1,4403	2.1+/-5.4	0,1,2201	55.0	57.0	56.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	6290	2.5	0.0	13	dbSNP_132	56	1,8595	1.2+/-3.3	0,1,4297	no	missense	BRCA2	NM_000059.3	81	0,2,6498	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	2097/3419	32914782	2,12998	2202	4298	6500	SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32914782C>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6290C>T	13.37:g.32914782C>T	ENSP00000369497:p.Thr2097Met	TCGA Ovarian(8;0.087)					p.T2097M	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	6517	+		Lung SC(185;0.0262)	2097					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.6290C>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	3.000	-0.206247	0.06180	2.27E-4	1.16E-4	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00745	5.75;5.75	5.49	2.47	0.30058	.	1.126950	0.06491	N	0.734654	T	0.01029	0.0034	M	0.67953	2.075	0.09310	N	1	P	0.44309	0.832	B	0.35727	0.209	T	0.48317	-0.9046	10	0.54805	T	0.06	.	1.182	0.01847	0.2537:0.3783:0.1984:0.1696	.	2097	P51587	BRCA2_HUMAN	M	2097	ENSP00000369497:T2097M;ENSP00000439902:T2097M	ENSP00000369497:T2097M	T	+	2	0	BRCA2	31812782	0.000000	0.05858	0.019000	0.16419	0.109000	0.19521	0.380000	0.20602	0.665000	0.31066	-0.216000	0.12614	ACG		0.348	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2		NM_000059		16	91	0	0	0	0.003163	0	16	91		
THSD1	55901	broad.mit.edu	37	13	52971455	52971455	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr13:52971455C>T	ENST00000258613.4	-	3	1111	c.933G>A	c.(931-933)ggG>ggA	p.G311G	RNY4P24_ENST00000362735.1_RNA|THSD1_ENST00000544466.1_Intron|THSD1_ENST00000349258.4_Silent_p.G311G	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	311					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.G311G(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ACTTATTCTTCCCCATGTCAA	0.448																																						uc001vgo.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(931-933)GGG>GGA		thrombospondin type I domain-containing 1							72.0	72.0	72.0					13																	52971455		2203	4300	6503	SO:0001819	synonymous_variant	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52971455C>T	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.933G>A	13.37:g.52971455C>T						THSD1_uc001vgp.2_Silent_p.G311G|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron	p.G311G	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	3	1478	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	311			Extracellular (Potential).		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Silent	SNP	ENST00000258613.4	37	c.933G>A	CCDS9432.1																																																																																				0.448	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3				7	129	0	0	0	0.00308	0	7	129		
OLFM4	10562	broad.mit.edu	37	13	53624617	53624617	+	Missense_Mutation	SNP	T	T	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr13:53624617T>G	ENST00000219022.2	+	5	1322	c.1244T>G	c.(1243-1245)cTt>cGt	p.L415R		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	415	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)	p.L415R(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GACACCACACTTCAGGTGCTA	0.428																																						uc001vhl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(1243-1245)CTT>CGT		olfactomedin 4 precursor							160.0	141.0	148.0					13																	53624617		2203	4300	6503	SO:0001583	missense	10562				cell adhesion	extracellular space		g.chr13:53624617T>G	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1244T>G	13.37:g.53624617T>G	ENSP00000219022:p.Leu415Arg					OLFM4_uc001vhk.1_3'UTR	p.L415R	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	5	1244	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	415			Olfactomedin-like.		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	c.1244T>G	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.689551	0.88735	.	.	ENSG00000102837	ENST00000219022	D	0.95035	-3.59	5.92	5.92	0.95590	Olfactomedin-like (3);	0.118187	0.64402	D	0.000010	D	0.97999	0.9341	M	0.94063	3.49	0.58432	D	0.999993	D	0.89917	1.0	D	0.85130	0.997	D	0.99084	1.0838	10	0.87932	D	0	.	16.3604	0.83263	0.0:0.0:0.0:1.0	.	415	Q6UX06	OLFM4_HUMAN	R	415	ENSP00000219022:L415R	ENSP00000219022:L415R	L	+	2	0	OLFM4	52522618	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	8.040000	0.89188	2.260000	0.74910	0.528000	0.53228	CTT		0.428	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2		NM_006418		32	140	0	0	0	0.013726	0	32	140		
RNF113B	140432	broad.mit.edu	37	13	98828998	98828998	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr13:98828998C>T	ENST00000267291.6	-	1	521	c.493G>A	c.(493-495)Ggc>Agc	p.G165S	FARP1_ENST00000376581.5_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	165							zinc ion binding (GO:0008270)	p.G165S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GAGGAGTTGCCCATGGACGTG	0.647																																						uc001vnk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(493-495)GGC>AGC		ring finger protein 113B							83.0	70.0	75.0					13																	98828998		2203	4300	6503	SO:0001583	missense	140432						nucleic acid binding|zinc ion binding	g.chr13:98828998C>T	AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"""RING-type (C3HC4) zinc fingers"""	17267	protein-coding gene	gene with protein product			"""zinc finger protein 183-like 1"""	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.493G>A	13.37:g.98828998C>T	ENSP00000267291:p.Gly165Ser					FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	p.G165S	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)		1	524	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		165					Q8WWF9|Q96QY9	Missense_Mutation	SNP	ENST00000267291.6	37	c.493G>A	CCDS9486.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374042	0.42105	.	.	ENSG00000139797	ENST00000267291	T	0.30981	1.51	1.16	1.16	0.20824	.	0.000000	0.85682	U	0.000000	T	0.46502	0.1396	M	0.78637	2.42	0.54753	D	0.999987	D	0.67145	0.996	P	0.61722	0.893	T	0.45308	-0.9270	10	0.48119	T	0.1	.	8.184	0.31328	0.0:1.0:0.0:0.0	.	165	Q8IZP6	R113B_HUMAN	S	165	ENSP00000267291:G165S	ENSP00000267291:G165S	G	-	1	0	RNF113B	97626999	1.000000	0.71417	0.974000	0.42286	0.118000	0.20060	5.091000	0.64505	0.936000	0.37367	0.484000	0.47621	GGC		0.647	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3		NM_178861		5	142	0	0	0	0.001168	0	5	142		
OR4L1	122742	broad.mit.edu	37	14	20528885	20528885	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr14:20528885A>C	ENST00000315683.1	+	1	682	c.682A>C	c.(682-684)Aaa>Caa	p.K228Q		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K228Q(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGTACCAAAAAAATCATCACA	0.448																																						uc001vwn.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(682-684)AAA>CAA		olfactory receptor, family 4, subfamily L,							191.0	177.0	182.0					14																	20528885		2203	4300	6503	SO:0001583	missense	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528885A>C		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.682A>C	14.37:g.20528885A>C	ENSP00000319217:p.Lys228Gln						p.K228Q	NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	682	+	all_cancers(95;0.00108)		228			Cytoplasmic (Potential).		Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	c.682A>C	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	1.569	-0.534687	0.04082	.	.	ENSG00000176246	ENST00000315683	T	0.00115	8.71	4.13	0.378	0.16204	GPCR, rhodopsin-like superfamily (1);	1.484720	0.04115	N	0.315297	T	0.00073	0.0002	N	0.02876	-0.465	0.09310	N	1	B	0.13594	0.008	B	0.22880	0.042	T	0.05146	-1.0903	10	0.32370	T	0.25	.	5.5962	0.17329	0.5727:0.3318:0.0955:0.0	.	228	Q8NH43	OR4L1_HUMAN	Q	228	ENSP00000319217:K228Q	ENSP00000319217:K228Q	K	+	1	0	OR4L1	19598725	0.000000	0.05858	0.004000	0.12327	0.065000	0.16274	0.397000	0.20883	0.217000	0.20800	0.528000	0.53228	AAA		0.448	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1				5	143	0	0	0	0.014758	0	5	143		
SYNE2	23224	broad.mit.edu	37	14	64514796	64514796	+	Missense_Mutation	SNP	C	C	T	rs570233690		TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr14:64514796C>T	ENST00000344113.4	+	46	7512	c.7300C>T	c.(7300-7302)Cgg>Tgg	p.R2434W	SYNE2_ENST00000554584.1_Missense_Mutation_p.R2467W|SYNE2_ENST00000358025.3_Missense_Mutation_p.R2434W|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2434					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.R2434W(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGAAGATGAGCGGAAAGTCAA	0.323													C|||	1	0.000199681	0.0	0.0	5008	,	,		19014	0.0		0.001	False		,,,				2504	0.0					uc001xgm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(7300-7302)CGG>TGG		spectrin repeat containing, nuclear envelope 2							79.0	77.0	78.0					14																	64514796		1859	4094	5953	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64514796C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.7300C>T	14.37:g.64514796C>T	ENSP00000341781:p.Arg2434Trp					SYNE2_uc001xgl.2_Missense_Mutation_p.R2434W	p.R2434W	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	46	7530	+			2434			Potential.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.7300C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412935	0.62511	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.59906	0.7;0.7;0.23	5.7	5.7	0.88788	.	0.464956	0.20129	N	0.098636	T	0.49795	0.1578	N	0.14661	0.345	0.80722	D	1	D;D	0.60160	0.978;0.987	B;P	0.46825	0.328;0.528	T	0.57631	-0.7778	10	0.72032	D	0.01	.	18.0187	0.89249	0.0:1.0:0.0:0.0	.	2434;2434	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	W	2434;2434;2467;2467	ENSP00000350719:R2434W;ENSP00000341781:R2434W;ENSP00000452570:R2467W	ENSP00000261678:R2467W	R	+	1	2	SYNE2	63584549	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	2.494000	0.45329	2.695000	0.91970	0.460000	0.39030	CGG		0.323	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914		10	48	0	0	0	0.008291	0	10	48		
SYNE2	23224	broad.mit.edu	37	14	64519446	64519446	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr14:64519446G>C	ENST00000344113.4	+	48	9027	c.8815G>C	c.(8815-8817)Gaa>Caa	p.E2939Q	SYNE2_ENST00000554584.1_Missense_Mutation_p.E2972Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E2939Q|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2939					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.E2939Q(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAATGAAGTGGAACACAAGAT	0.343																																						uc001xgm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(8815-8817)GAA>CAA		spectrin repeat containing, nuclear envelope 2							33.0	32.0	32.0					14																	64519446		1858	4091	5949	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64519446G>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.8815G>C	14.37:g.64519446G>C	ENSP00000341781:p.Glu2939Gln					SYNE2_uc001xgl.2_Missense_Mutation_p.E2939Q	p.E2939Q	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	9045	+			2939			Potential.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.8815G>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	4.521	0.096670	0.08681	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.53423	1.0;0.99;0.62	5.24	3.11	0.35812	.	0.536654	0.16932	N	0.193610	T	0.30386	0.0763	L	0.27053	0.805	0.09310	N	0.999997	B;B	0.24368	0.062;0.102	B;B	0.21917	0.016;0.037	T	0.12837	-1.0532	10	0.34782	T	0.22	.	5.9555	0.19271	0.2162:0.1593:0.6245:0.0	.	2939;2939	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	Q	2939;2939;2972;2972	ENSP00000350719:E2939Q;ENSP00000341781:E2939Q;ENSP00000452570:E2972Q	ENSP00000261678:E2972Q	E	+	1	0	SYNE2	63589199	0.001000	0.12720	0.945000	0.38365	0.204000	0.24138	0.574000	0.23714	1.180000	0.42898	0.313000	0.20887	GAA		0.343	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914		13	39	0	0	0	0.013537	0	13	39		
SPTB	6710	broad.mit.edu	37	14	65253698	65253698	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr14:65253698C>T	ENST00000389721.5	-	15	3017	c.2985G>A	c.(2983-2985)agG>agA	p.R995R	SPTB_ENST00000389720.3_Silent_p.R995R|SPTB_ENST00000542895.1_Silent_p.R995R|SPTB_ENST00000389722.3_Silent_p.R995R|SPTB_ENST00000556626.1_Silent_p.R995R	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	995					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.R995R(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTGACAACTTCCTCTGGATGG	0.607																																						uc001xht.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(2983-2985)AGG>AGA		spectrin beta isoform b							89.0	80.0	83.0					14																	65253698		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65253698C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2985G>A	14.37:g.65253698C>T						SPTB_uc001xhr.2_Silent_p.R995R|SPTB_uc001xhs.2_Silent_p.R995R|SPTB_uc001xhu.2_Silent_p.R995R	p.R995R	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	15	3039	-		all_lung(585;4.15e-09)	995			Spectrin 7.		Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.2985G>A	CCDS32100.1																																																																																				0.607	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1				29	82	0	0	0	0.008361	0	29	82		
SMOC1	64093	broad.mit.edu	37	14	70490103	70490103	+	Silent	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr14:70490103G>T	ENST00000381280.4	+	11	1483	c.1230G>T	c.(1228-1230)ctG>ctT	p.L410L	SMOC1_ENST00000361956.3_Silent_p.L410L	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	410	EF-hand 2.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)	p.L410L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		ACTGTGACCTGAACAAAGACA	0.517																																						uc001xls.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(1228-1230)CTG>CTT		secreted modular calcium-binding protein 1							214.0	196.0	202.0					14																	70490103		2203	4300	6503	SO:0001819	synonymous_variant	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70490103G>T	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.1230G>T	14.37:g.70490103G>T						SMOC1_uc001xlt.1_Silent_p.L410L	p.L410L	NM_022137	NP_071420	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	11	1483	+			410			2 (Potential).|EF-hand 2.		A8K1S3|B2R7P5|Q96F78	Silent	SNP	ENST00000381280.4	37	c.1230G>T	CCDS9798.1																																																																																				0.517	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1				113	127	1	0	5.96743e-59	0.01441	6.9208e-59	113	127		
ELMSAN1	91748	broad.mit.edu	37	14	74194193	74194193	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr14:74194193C>T	ENST00000286523.5	-	5	2912	c.2130G>A	c.(2128-2130)gtG>gtA	p.V710V	ELMSAN1_ENST00000394071.2_Silent_p.V710V	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	710					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.V710V(1)									CCTCCCCCATCACAGAGAGGA	0.607																																						uc001xot.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|central_nervous_system(1)	5						c.(2128-2130)GTG>GTA		hypothetical protein LOC91748							65.0	59.0	61.0					14																	74194193		2203	4300	6503	SO:0001819	synonymous_variant	91748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:74194193C>T	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.2130G>A	14.37:g.74194193C>T						C14orf43_uc001xos.2_5'UTR|C14orf43_uc001xou.2_Silent_p.V710V|C14orf43_uc010tud.1_Silent_p.V710V|C14orf43_uc010arw.2_RNA	p.V710V	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)	5	2913	-			710					Q6PK13|Q6PK59|Q6ZS23	Silent	SNP	ENST00000286523.5	37	c.2130G>A	CCDS9819.1																																																																																				0.607	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1		NM_194278		10	40	0	0	0	0.010729	0	10	40		
OTUD7A	161725	broad.mit.edu	37	15	31795993	31795993	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr15:31795993C>T	ENST00000307050.4	-	7	993	c.901G>A	c.(901-903)Gag>Aag	p.E301K	OTUD7A_ENST00000382902.1_Missense_Mutation_p.E308K	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	301	Catalytic. {ECO:0000250}.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.E301K(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TCCAGGCTCTCGTACACGGGG	0.493																																						uc001zfq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)|skin(1)	2						c.(901-903)GAG>AAG		OTU domain containing 7A							116.0	108.0	111.0					15																	31795993		2202	4300	6502	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31795993C>T	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.901G>A	15.37:g.31795993C>T	ENSP00000305926:p.Glu301Lys					OTUD7A_uc001zfr.2_Missense_Mutation_p.E308K	p.E301K	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	7	994	-		all_lung(180;1.6e-09)	301			OTU.|Catalytic (By similarity).|TRAF-binding (By similarity).		Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.901G>A	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	C	32	5.177309	0.94846	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.36520	1.29;1.25	4.67	4.67	0.58626	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.59797	0.2220	M	0.65975	2.015	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.65055	-0.6261	10	0.87932	D	0	-35.6651	17.9624	0.89090	0.0:1.0:0.0:0.0	.	308;301	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	K	301;308	ENSP00000305926:E301K;ENSP00000372358:E308K	ENSP00000305926:E301K	E	-	1	0	OTUD7A	29583285	1.000000	0.71417	0.989000	0.46669	0.939000	0.58152	7.052000	0.76634	2.284000	0.76573	0.655000	0.94253	GAG		0.493	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2		NM_130901		52	69	0	0	0	0.01441	0	52	69		
RYR3	6263	broad.mit.edu	37	15	34105682	34105682	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr15:34105682G>A	ENST00000389232.4	+	74	10474	c.10404G>A	c.(10402-10404)ttG>ttA	p.L3468L	RYR3_ENST00000415757.3_Silent_p.L3463L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3468					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.L3468L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AACAGCCTTTGAGGTCCAAGA	0.532																																						uc001zhi.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(10402-10404)TTG>TTA		ryanodine receptor 3							116.0	114.0	114.0					15																	34105682		1946	4134	6080	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34105682G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10404G>A	15.37:g.34105682G>A						RYR3_uc010bar.2_Silent_p.L3463L	p.L3468L	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	74	10474	+		all_lung(180;7.18e-09)	3468					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.10404G>A	CCDS45210.1																																																																																				0.532	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1				26	97	0	0	0	0.005443	0	26	97		
UNC13C	440279	broad.mit.edu	37	15	54306223	54306223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr15:54306223C>T	ENST00000260323.11	+	1	1123	c.1123C>T	c.(1123-1125)Cga>Tga	p.R375*	UNC13C_ENST00000545554.1_Nonsense_Mutation_p.R375*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.R375*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	375					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.R375*(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGCAAAGCCTCGACCCATACT	0.378																																						uc002ack.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(5)|pancreas(2)	7						c.(1123-1125)CGA>TGA		unc-13 homolog C							76.0	73.0	74.0					15																	54306223		1849	4092	5941	SO:0001587	stop_gained	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54306223C>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1123C>T	15.37:g.54306223C>T	ENSP00000260323:p.Arg375*						p.R375*	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	1123	+			375					Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	ENST00000260323.11	37	c.1123C>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	37	6.620188	0.97709	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.38	3.41	0.39046	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8083	0.34952	0.4567:0.4185:0.1249:0.0	.	.	.	.	X	375	.	ENSP00000260323:R375X	R	+	1	2	UNC13C	52093515	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	1.979000	0.40608	0.560000	0.29169	0.655000	0.94253	CGA		0.378	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3		NM_173166		29	26	0	0	0	0.008361	0	29	26		
SNX22	79856	broad.mit.edu	37	15	64446670	64446670	+	Missense_Mutation	SNP	C	C	G	rs199721409		TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr15:64446670C>G	ENST00000325881.4	+	7	604	c.545C>G	c.(544-546)gCg>gGg	p.A182G	PPIB_ENST00000558492.1_5'Flank	NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN	sorting nexin 22	182					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.A182G(1)		large_intestine(3)|lung(1)|urinary_tract(2)	6						CAGCCAAAGGCGGCCTGTCAC	0.562																																						uc002anc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(544-546)GCG>GGG		sorting nexin 22							130.0	126.0	127.0					15																	64446670		2203	4300	6503	SO:0001583	missense	79856				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr15:64446670C>G	AK024014	CCDS10190.1	15q22.1	2010-01-15			ENSG00000157734	ENSG00000157734		"""Sorting nexins"""	16315	protein-coding gene	gene with protein product						12461558, 17400918	Standard	NR_073534		Approved	FLJ13952	uc002anc.1	Q96L94	OTTHUMG00000132965	ENST00000325881.4:c.545C>G	15.37:g.64446670C>G	ENSP00000323435:p.Ala182Gly					SNX22_uc002amz.1_3'UTR|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_RNA	p.A182G	NM_024798	NP_079074	Q96L94	SNX22_HUMAN			7	604	+			182					Q8WUS9|Q9H844	Missense_Mutation	SNP	ENST00000325881.4	37	c.545C>G	CCDS10190.1	.	.	.	.	.	.	.	.	.	.	C	9.894	1.205134	0.22205	.	.	ENSG00000157734	ENST00000325881	T	0.77877	-1.13	5.43	-1.77	0.07982	.	0.327246	0.23949	N	0.042977	T	0.53206	0.1782	N	0.25647	0.755	0.09310	N	1	B	0.31318	0.319	B	0.28553	0.091	T	0.40308	-0.9570	10	0.14656	T	0.56	-29.7546	3.7998	0.08754	0.4442:0.3052:0.0:0.2506	.	182	Q96L94	SNX22_HUMAN	G	182	ENSP00000323435:A182G	ENSP00000323435:A182G	A	+	2	0	SNX22	62233723	0.000000	0.05858	0.001000	0.08648	0.285000	0.27093	-0.811000	0.04500	0.019000	0.15079	-0.448000	0.05591	GCG		0.562	SNX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256524.2		NM_024798		34	199	0	0	0	0.005524	0	34	199		
SKOR1	390598	broad.mit.edu	37	15	68121571	68121571	+	Missense_Mutation	SNP	C	C	T	rs567244763	byFrequency	TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr15:68121571C>T	ENST00000380035.2	+	3	2429	c.2371C>T	c.(2371-2373)Ccc>Tcc	p.P791S	SKOR1_ENST00000554054.1_Missense_Mutation_p.P763S|SKOR1_ENST00000389002.1_Missense_Mutation_p.P747S|SKOR1_ENST00000341418.5_Missense_Mutation_p.P694S|SKOR1_ENST00000554240.1_Missense_Mutation_p.P752S			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	791					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.P791S(1)|p.P747S(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GGCGCTGGGGCCCGCGGCCTC	0.706																																						uc002aqy.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(2239-2241)CCC>TCC		transcriptional corepressor Corl1																																				SO:0001583	missense	390598				negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	g.chr15:68121571C>T		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.2371C>T	15.37:g.68121571C>T	ENSP00000369374:p.Pro791Ser						p.P747S	NM_001031807	NP_001026977	P84550	SKOR1_HUMAN			4	2239	+			791					A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	ENST00000380035.2	37	c.2239C>T		.	.	.	.	.	.	.	.	.	.	C	15.49	2.849057	0.51270	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	4.77	2.75	0.32379	.	0.823056	0.10966	N	0.614453	T	0.23133	0.0559	N	0.24115	0.695	0.30227	N	0.796263	B	0.13594	0.008	B	0.12156	0.007	T	0.16958	-1.0385	10	0.39692	T	0.17	-13.7578	6.3309	0.21269	0.1813:0.7177:0.0:0.1011	.	747	P84550-3	.	S	694;752;763;791;747	ENSP00000343200:P694S;ENSP00000451193:P752S;ENSP00000452361:P763S;ENSP00000369374:P791S;ENSP00000373654:P747S	ENSP00000343200:P694S	P	+	1	0	SKOR1	65908625	0.989000	0.36119	1.000000	0.80357	0.992000	0.81027	0.888000	0.28268	1.137000	0.42214	0.561000	0.74099	CCC		0.706	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1		NM_001031807		2	3	0	0	0	0.004672	0	2	3		
MYO9A	4649	broad.mit.edu	37	15	72338071	72338071	+	Silent	SNP	T	T	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr15:72338071T>C	ENST00000356056.5	-	2	1306	c.834A>G	c.(832-834)gtA>gtG	p.V278V	RNU2-65P_ENST00000410162.1_RNA|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000444904.1_Silent_p.V278V|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Silent_p.V278V|MYO9A_ENST00000564571.1_Silent_p.V278V	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	278	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.V278V(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTACCTCAAGTACTGGTCCAG	0.388																																						uc002atl.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(832-834)GTA>GTG		myosin IXA							53.0	54.0	54.0					15																	72338071		2198	4297	6495	SO:0001819	synonymous_variant	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72338071T>C	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.834A>G	15.37:g.72338071T>C						MYO9A_uc010biq.2_Intron|MYO9A_uc002ato.2_Silent_p.V278V|MYO9A_uc002atn.1_Silent_p.V278V	p.V278V	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			2	1307	-			278			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	c.834A>G	CCDS10239.1																																																																																				0.388	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1		NM_006901		35	43	0	0	0	0.019004	0	35	43		
MAN2A2	4122	broad.mit.edu	37	15	91448546	91448546	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr15:91448546G>C	ENST00000559717.1	+	3	657	c.198G>C	c.(196-198)gaG>gaC	p.E66D	MAN2A2_ENST00000431652.2_5'Flank|MAN2A2_ENST00000360468.3_Missense_Mutation_p.E66D			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	66					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.E66D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			AGAACCATGAGATTATCAGCC	0.552																																						uc010bnz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(2)|ovary(1)	3						c.(196-198)GAG>GAC		mannosidase, alpha, class 2A, member 2							67.0	69.0	69.0					15																	91448546		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91448546G>C	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.198G>C	15.37:g.91448546G>C	ENSP00000452948:p.Glu66Asp					MAN2A2_uc010boa.2_Missense_Mutation_p.E108D|MAN2A2_uc002bqc.2_Missense_Mutation_p.E66D|MAN2A2_uc010uql.1_5'Flank|MAN2A2_uc010uqm.1_5'Flank	p.E66D	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Lung(145;0.229)		3	313	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		66			Lumenal (Potential).		A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.198G>C	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979239	0.53827	.	.	ENSG00000196547	ENST00000360468	T	0.78481	-1.18	5.9	-2.02	0.07388	.	0.154467	0.64402	N	0.000018	T	0.69557	0.3124	L	0.60455	1.87	0.80722	D	1	B;B	0.17465	0.022;0.005	B;B	0.29716	0.106;0.03	T	0.54077	-0.8347	10	0.52906	T	0.07	-28.5337	6.2582	0.20885	0.3549:0.2058:0.4393:0.0	.	66;66	P49641-1;P49641	.;MA2A2_HUMAN	D	66	ENSP00000353655:E66D	ENSP00000353655:E66D	E	+	3	2	MAN2A2	89249550	1.000000	0.71417	0.928000	0.36995	0.989000	0.77384	1.770000	0.38532	-0.659000	0.05359	0.555000	0.69702	GAG		0.552	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5		NM_006122		69	65	0	0	0	0.01441	0	69	65		
TARSL2	123283	broad.mit.edu	37	15	102211921	102211921	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr15:102211921C>T	ENST00000335968.3	-	14	2035	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	607					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.E607K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCACGGTTCTCCAAAGTCC	0.348																																						uc002bxm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1819-1821)GAA>AAA		threonyl-tRNA synthetase-like 2							70.0	68.0	69.0					15																	102211921		2203	4300	6503	SO:0001583	missense	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102211921C>T	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1819G>A	15.37:g.102211921C>T	ENSP00000338093:p.Glu607Lys					TARSL2_uc002bxl.2_Missense_Mutation_p.E152K|TARSL2_uc010usi.1_RNA	p.E607K	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		14	1874	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		607					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	c.1819G>A	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	C	8.122	0.781140	0.16120	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	5.11	0.151	0.14888	Aminoacyl-tRNA synthetase, class II (1);	0.287432	0.38058	N	0.001831	T	0.17831	0.0428	N	0.05078	-0.115	0.31845	N	0.622959	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.14587	-1.0467	9	0.24483	T	0.36	-12.1777	8.3439	0.32261	0.0:0.5226:0.0:0.4774	.	607;512	A2RTX5;A2RTX5-2	SYTC2_HUMAN;.	K	607;512;607	.	ENSP00000329291:E512K	E	-	1	0	TARSL2	100029444	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.977000	0.49297	0.274000	0.22072	0.585000	0.79938	GAA		0.348	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3		NM_152334		4	83	0	0	0	0.014758	0	4	83		
PTX4	390667	broad.mit.edu	37	16	1535988	1535988	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr16:1535988G>A	ENST00000447419.2	-	3	1414	c.1389C>T	c.(1387-1389)ggC>ggT	p.G463G	PTX4_ENST00000440447.2_3'UTR|PTX4_ENST00000293922.1_Silent_p.G458G			Q96A99	PTX4_HUMAN	pentraxin 4, long	463	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)	p.G458G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GCACAAATCCGCCTGCTAGTG	0.657																																						uc010uvf.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1372-1374)GGC>GGT		neuronal pentraxin II-like							39.0	40.0	40.0					16																	1535988		2199	4300	6499	SO:0001819	synonymous_variant	390667					extracellular region	metal ion binding	g.chr16:1535988G>A		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.1389C>T	16.37:g.1535988G>A							p.G458G	NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN			3	1374	-			463			Pentaxin.			Silent	SNP	ENST00000447419.2	37	c.1374C>T																																																																																					0.657	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1		NM_001013658		3	33	0	0	0	0.004672	0	3	33		
CDR2	1039	broad.mit.edu	37	16	22385609	22385609	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr16:22385609C>G	ENST00000268383.2	-	1	329	c.22G>C	c.(22-24)Gag>Cag	p.E8Q	RP11-21M24.2_ENST00000568827.1_RNA|RP11-21M24.2_ENST00000567158.1_RNA|CDR2_ENST00000569045.1_Intron	NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	8						cytoplasm (GO:0005737)		p.E8Q(1)		endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TCAAACTCCTCTACCAGGTTT	0.736																																						uc002dkn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(22-24)GAG>CAG		cerebellar degeneration-related protein 2							53.0	55.0	54.0					16																	22385609		2197	4300	6497	SO:0001583	missense	1039					nucleus	protein binding	g.chr16:22385609C>G	M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"""Yo paraneoplastic antigen"""	117340	"""cerebellar degeneration-related protein (62kD)"""			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.22G>C	16.37:g.22385609C>G	ENSP00000268383:p.Glu8Gln						p.E8Q	NM_001802	NP_001793	Q01850	CDR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0188)	1	330	-			8					A8K8A8|Q13977	Missense_Mutation	SNP	ENST00000268383.2	37	c.22G>C	CCDS32404.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503198	0.44558	.	.	ENSG00000140743	ENST00000268383	T	0.55930	0.49	4.23	3.28	0.37604	.	0.113520	0.56097	U	0.000021	T	0.54398	0.1856	M	0.73962	2.25	0.46954	D	0.999261	B	0.20887	0.049	B	0.28011	0.085	T	0.56950	-0.7894	10	0.72032	D	0.01	-16.8646	11.8192	0.52228	0.0:0.9135:0.0:0.0865	.	8	Q01850	CDR2_HUMAN	Q	8	ENSP00000268383:E8Q	ENSP00000268383:E8Q	E	-	1	0	CDR2	22293110	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.767000	0.62286	0.767000	0.33267	0.462000	0.41574	GAG		0.736	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430081.1				22	22	0	0	0	0.01892	0	22	22		
LAT	27040	broad.mit.edu	37	16	28997204	28997204	+	Missense_Mutation	SNP	G	G	A	rs150635404		TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr16:28997204G>A	ENST00000360872.5	+	3	236	c.158G>A	c.(157-159)cGg>cAg	p.R53Q	LAT_ENST00000354453.4_Missense_Mutation_p.R53Q|LAT_ENST00000395456.2_Missense_Mutation_p.R53Q|LAT_ENST00000395461.3_Missense_Mutation_p.R89Q|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000454369.2_Missense_Mutation_p.R53Q|LAT_ENST00000566177.1_Missense_Mutation_p.R53Q|LAT_ENST00000563964.1_3'UTR|LAT_ENST00000564277.1_Missense_Mutation_p.R53Q			O43561	LAT_HUMAN	linker for activation of T cells	53					blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|gene expression (GO:0010467)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lymphocyte homeostasis (GO:0002260)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|regulation of T cell activation (GO:0050863)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH3/SH2 adaptor activity (GO:0005070)	p.R53Q(1)		large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				CAGTTCAAACGGCCTCGTGAG	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17615	0.0		0.0	False		,,,				2504	0.0					uc002dsd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(157-159)CGG>CAG		linker for activation of T cells isoform a		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4393	2.1+/-5.4	0,1,2196	111.0	121.0	118.0		158,158,266,158	-3.8	0.0	16	dbSNP_134	118	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense,missense,missense	LAT	NM_001014987.1,NM_001014988.1,NM_001014989.1,NM_014387.3	43,43,43,43	0,7,6490	AA,AG,GG		0.0698,0.0228,0.0539	,,,	53/234,53/233,89/270,53/263	28997204	7,12987	2197	4300	6497	SO:0001583	missense	27040				calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity	g.chr16:28997204G>A	AF036905	CCDS10647.1, CCDS32425.1, CCDS45455.1, CCDS53999.1	16q13	2011-11-01			ENSG00000213658	ENSG00000213658			18874	protein-coding gene	gene with protein product	"""linker for activation of T cells, transmembrane adaptor"""	602354				9489702	Standard	NM_014387		Approved	LAT1	uc010vdj.2	O43561	OTTHUMG00000131761	ENST00000360872.5:c.158G>A	16.37:g.28997204G>A	ENSP00000354119:p.Arg53Gln					uc010vct.1_Intron|LAT_uc010vdj.1_Missense_Mutation_p.R89Q|LAT_uc002dsb.2_Missense_Mutation_p.R53Q|LAT_uc002dsc.2_Missense_Mutation_p.R53Q|LAT_uc010vdk.1_Missense_Mutation_p.R53Q|LAT_uc010vdl.1_Missense_Mutation_p.R53Q	p.R53Q	NM_014387	NP_055202	O43561	LAT_HUMAN			3	510	+		Hepatocellular(780;0.244)	53			Cytoplasmic (Potential).		B7WPI0|C7C5T6|G5E9K3|O43919	Missense_Mutation	SNP	ENST00000360872.5	37	c.158G>A	CCDS10647.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.82	2.351279	0.41700	2.28E-4	6.98E-4	ENSG00000213658	ENST00000395461;ENST00000395456;ENST00000454369;ENST00000360872;ENST00000354453	.	.	.	4.11	-3.84	0.04256	.	.	.	.	.	T	0.27384	0.0672	L	0.27053	0.805	0.09310	N	1	D;B;B;D;B	0.69078	0.997;0.04;0.04;0.997;0.04	P;B;B;P;B	0.51895	0.683;0.003;0.003;0.683;0.003	T	0.20472	-1.0274	8	0.28530	T	0.3	-2.2742	5.5955	0.17325	0.0952:0.6426:0.1642:0.0979	.	53;53;89;53;53	C7C5T6;O43561-2;B7WPI0;O43561;G5E9K3	.;.;.;LAT_HUMAN;.	Q	89;53;53;53;53	.	ENSP00000346441:R53Q	R	+	2	0	LAT	28904705	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-0.049000	0.11924	-0.650000	0.05423	-0.379000	0.06801	CGG		0.607	LAT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254688.2				107	174	0	0	0	0.01441	0	107	174		
ZFHX3	463	broad.mit.edu	37	16	72984605	72984605	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr16:72984605G>A	ENST00000268489.5	-	3	3651	c.2979C>T	c.(2977-2979)acC>acT	p.T993T	ZFHX3_ENST00000397992.5_Silent_p.T79T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	993					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.T993T(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCTTGAGCTGGGTGTTGTAGC	0.607																																						uc002fck.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|skin(2)	4						c.(2977-2979)ACC>ACT		zinc finger homeobox 3 isoform A							164.0	135.0	145.0					16																	72984605		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72984605G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2979C>T	16.37:g.72984605G>A						ZFHX3_uc002fcl.2_Silent_p.T79T	p.T993T	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			3	3652	-		Ovarian(137;0.13)	993			C2H2-type 7; atypical.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.2979C>T	CCDS10908.1																																																																																				0.607	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1		NM_006885		43	33	0	0	0	0.011902	0	43	33		
MYH1	4619	broad.mit.edu	37	17	10411687	10411687	+	Silent	SNP	C	C	T	rs377184878		TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr17:10411687C>T	ENST00000226207.5	-	16	1984	c.1890G>A	c.(1888-1890)gcG>gcA	p.A630A	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	630	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A630A(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TACCTGCTTCCGCTCCCGTTG	0.463																																						uc002gmo.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(1888-1890)GCG>GCA		myosin, heavy chain 1, skeletal muscle, adult		C		0,4406		0,0,2203	56.0	59.0	58.0		1890	-1.8	0.9	17		58	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MYH1	NM_005963.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		630/1940	10411687	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10411687C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1890G>A	17.37:g.10411687C>T						uc002gml.1_Intron	p.A630A	NM_005963	NP_005954	P12882	MYH1_HUMAN			16	1984	-			630			Myosin head-like.		Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.1890G>A	CCDS11155.1																																																																																				0.463	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1		NM_005963		105	139	0	0	0	0.01441	0	105	139		
DNAH9	1770	broad.mit.edu	37	17	11622799	11622799	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr17:11622799G>T	ENST00000262442.4	+	27	5769	c.5701G>T	c.(5701-5703)Gat>Tat	p.D1901Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.D1901Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1901	AAA 1. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.D1901Y(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGAGCAGATGGATTACAAGGT	0.612																																						uc002gne.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(5701-5703)GAT>TAT		dynein, axonemal, heavy chain 9 isoform 2							76.0	73.0	74.0					17																	11622799		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11622799G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5701G>T	17.37:g.11622799G>T	ENSP00000262442:p.Asp1901Tyr					DNAH9_uc010coo.2_Missense_Mutation_p.D1195Y	p.D1901Y	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	27	5769	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1901			AAA 1 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.5701G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531927	0.85706	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.15718	2.4;2.4	5.09	5.09	0.68999	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.59851	0.2224	H	0.97291	3.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76721	-0.2855	10	0.87932	D	0	.	18.4897	0.90842	0.0:0.0:1.0:0.0	.	1901	Q9NYC9	DYH9_HUMAN	Y	1901;1901;483	ENSP00000262442:D1901Y;ENSP00000414874:D1901Y	ENSP00000262442:D1901Y	D	+	1	0	DNAH9	11563524	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.621000	0.98376	2.376000	0.81061	0.555000	0.69702	GAT		0.612	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2		NM_001372		14	76	1	0	6.31663e-08	0.003163	6.91653e-08	14	76		
PIGW	284098	broad.mit.edu	37	17	34893433	34893433	+	Silent	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr17:34893433C>G	ENST00000592983.1	+	2	1063	c.483C>G	c.(481-483)ctC>ctG	p.L161L	MYO19_ENST00000544606.1_5'Flank|MYO19_ENST00000268852.9_5'Flank|MYO19_ENST00000586007.1_5'Flank|MYO19_ENST00000431794.3_5'Flank|PIGW_ENST00000328396.2_Silent_p.L161L|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	161					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)	p.L161L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAACTGAGCTCTATGGGACAG	0.448																																						uc002hmy.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(481-483)CTC>CTG		phosphatidylinositol glycan, class W							210.0	216.0	214.0					17																	34893433		2203	4300	6503	SO:0001819	synonymous_variant	284098				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity	g.chr17:34893433C>G	AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"""Phosphatidylinositol glycan anchor biosynthesis"""	23213	protein-coding gene	gene with protein product		610275	"""phosphatidylinositol glycan, class W"""			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.483C>G	17.37:g.34893433C>G						MYO19_uc002hmw.2_5'Flank|MYO19_uc010cuu.2_5'Flank|MYO19_uc010wcy.1_5'Flank|MYO19_uc010wcz.1_5'Flank|MYO19_uc010wda.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Silent_p.L161L	p.L161L	NM_178517	NP_848612	Q7Z7B1	PIGW_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	526	+		Breast(25;0.00957)|Ovarian(249;0.17)	161					Q8N9G3	Silent	SNP	ENST00000592983.1	37	c.483C>G	CCDS11313.1																																																																																				0.448	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451318.1		NM_178517		38	189	0	0	0	0.00623	0	38	189		
CNTNAP1	8506	broad.mit.edu	37	17	40837383	40837383	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr17:40837383C>T	ENST00000264638.4	+	5	877	c.660C>T	c.(658-660)ggC>ggT	p.G220G	CCR10_ENST00000591765.1_5'Flank|CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	220	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.G220G(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCGCCCAGGGCGACTACGTGA	0.662																																						uc002iay.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8						c.(658-660)GGC>GGT		contactin associated protein 1 precursor							73.0	63.0	67.0					17																	40837383		2203	4300	6503	SO:0001819	synonymous_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40837383C>T	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.660C>T	17.37:g.40837383C>T						CNTNAP1_uc010wgs.1_RNA	p.G220G	NM_003632	NP_003623	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	5	876	+		Breast(137;0.000143)	220			Laminin G-like 1.|Extracellular (Potential).			Silent	SNP	ENST00000264638.4	37	c.660C>T	CCDS11436.1																																																																																				0.662	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1		NM_003632		39	39	0	0	0	0.00874	0	39	39		
NBR1	4077	broad.mit.edu	37	17	41342744	41342744	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr17:41342744C>G	ENST00000422280.1	+	9	1273	c.814C>G	c.(814-816)Cac>Gac	p.H272D	NBR1_ENST00000341165.6_Missense_Mutation_p.H272D|NBR1_ENST00000590996.1_Missense_Mutation_p.H272D|NBR1_ENST00000389312.4_Missense_Mutation_p.H272D|NBR1_ENST00000542611.1_Missense_Mutation_p.H251D|NBR1_ENST00000589872.1_Missense_Mutation_p.H272D	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	272					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.H272D(1)		NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		ACCGTTCTGTCACTCAAAGTA	0.483																																						uc010czd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(814-816)CAC>GAC		neighbor of BRCA1 gene 1							141.0	134.0	136.0					17																	41342744		1940	4138	6078	SO:0001583	missense	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41342744C>G	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.814C>G	17.37:g.41342744C>G	ENSP00000411250:p.His272Asp					NBR1_uc010diz.2_Missense_Mutation_p.H272D|NBR1_uc010whu.1_Missense_Mutation_p.H272D|NBR1_uc010whv.1_Missense_Mutation_p.H272D|NBR1_uc010whw.1_Missense_Mutation_p.H251D|NBR1_uc010whx.1_Missense_Mutation_p.H81D	p.H272D	NM_031862	NP_114068	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	9	954	+		Breast(137;0.00086)	272					Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	c.814C>G	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.481047	0.26598	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.43688	1.53;0.94;1.53;1.53	5.96	4.99	0.66335	.	0.573826	0.19261	N	0.118662	T	0.24122	0.0584	N	0.14661	0.345	0.09310	N	1	B;B;P;B	0.36315	0.411;0.411;0.547;0.411	B;B;B;B	0.32677	0.048;0.048;0.15;0.048	T	0.10200	-1.0640	10	0.36615	T	0.2	-1.2062	9.7837	0.40664	0.0:0.785:0.1398:0.0752	.	272;251;272;272	A8K1U0;B7Z5R6;Q14596-2;Q14596	.;.;.;NBR1_HUMAN	D	272;251;272;272;272	ENSP00000411250:H272D;ENSP00000437545:H251D;ENSP00000343479:H272D;ENSP00000373963:H272D	ENSP00000343479:H272D	H	+	1	0	NBR1	38596270	0.337000	0.24766	0.099000	0.21106	0.675000	0.39556	1.387000	0.34430	1.507000	0.48752	0.655000	0.94253	CAC		0.483	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1		NM_005899		38	30	0	0	0	0.006999	0	38	30		
ARSG	22901	broad.mit.edu	37	17	66366656	66366656	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr17:66366656A>G	ENST00000448504.2	+	8	1769	c.973A>G	c.(973-975)Act>Gct	p.T325A	ARSG_ENST00000452479.2_Missense_Mutation_p.T161A|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	325					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.T325A(1)		NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATTTTGGCAAACTCGTCAAGG	0.557																																						uc002jhc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(973-975)ACT>GCT		Arylsulfatase G precursor							103.0	86.0	92.0					17																	66366656		2203	4300	6503	SO:0001583	missense	22901				sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	g.chr17:66366656A>G	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.973A>G	17.37:g.66366656A>G	ENSP00000407193:p.Thr325Ala					ARSG_uc002jhb.1_Missense_Mutation_p.T161A	p.T325A	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		8	1769	+			325					Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	37	c.973A>G	CCDS11676.1	.	.	.	.	.	.	.	.	.	.	A	2.880	-0.231987	0.05983	.	.	ENSG00000141337	ENST00000452479;ENST00000448504	.	.	.	5.0	1.4	0.22301	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.422834	0.25771	N	0.028409	T	0.30198	0.0757	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.23726	-1.0180	9	0.19590	T	0.45	.	6.2533	0.20859	0.6276:0.1256:0.2468:0.0	.	325	Q96EG1	ARSG_HUMAN	A	325;224	.	ENSP00000407193:T224A	T	+	1	0	ARSG	63878251	0.001000	0.12720	0.005000	0.12908	0.012000	0.07955	0.796000	0.26986	-0.193000	0.10415	-1.447000	0.01057	ACT		0.557	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1		NM_014960		4	64	0	0	0	0.009096	0	4	64		
KIAA1468	57614	broad.mit.edu	37	18	59949606	59949606	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr18:59949606C>G	ENST00000398130.2	+	25	3414	c.3182C>G	c.(3181-3183)tCt>tGt	p.S1061C	KIAA1468_ENST00000256858.6_Missense_Mutation_p.S1095C	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	1061								p.S1061C(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GACCAACATTCTTTGCATACA	0.393																																						uc002lil.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6						c.(3181-3183)TCT>TGT		hypothetical protein LOC57614							156.0	149.0	151.0					18																	59949606		2203	4300	6503	SO:0001583	missense	57614						binding	g.chr18:59949606C>G	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.3182C>G	18.37:g.59949606C>G	ENSP00000381198:p.Ser1061Cys					KIAA1468_uc010xel.1_Missense_Mutation_p.S1061C|KIAA1468_uc002lim.2_Missense_Mutation_p.S739C	p.S1061C	NM_020854	NP_065905	Q9P260	K1468_HUMAN			25	3397	+		Colorectal(73;0.186)	1061						Missense_Mutation	SNP	ENST00000398130.2	37	c.3182C>G	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593838	0.66219	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.04194	3.68;3.68	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.12092	0.0294	N	0.21448	0.665	0.80722	D	1	B;D	0.76494	0.287;0.999	B;D	0.69654	0.112;0.965	T	0.32455	-0.9906	9	.	.	.	-11.5849	19.4621	0.94921	0.0:1.0:0.0:0.0	.	1095;1061	Q9P260-2;Q9P260	.;K1468_HUMAN	C	1061;1095	ENSP00000381198:S1061C;ENSP00000256858:S1095C	.	S	+	2	0	KIAA1468	58100586	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.848000	0.69458	2.583000	0.87209	0.655000	0.94253	TCT		0.393	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1		NM_020854		72	78	0	0	0	0.01441	0	72	78		
LDLR	3949	broad.mit.edu	37	19	11224428	11224428	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr19:11224428C>T	ENST00000558518.1	+	10	1763	c.1576C>T	c.(1576-1578)Cct>Tct	p.P526S	LDLR_ENST00000535915.1_Missense_Mutation_p.P485S|LDLR_ENST00000557933.1_Missense_Mutation_p.P526S|LDLR_ENST00000545707.1_Missense_Mutation_p.P399S|LDLR_ENST00000455727.2_Missense_Mutation_p.P358S|LDLR_ENST00000558013.1_Missense_Mutation_p.P526S	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	526			P -> S (in Cincinnati-3).		cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.P526S(1)|p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	CGTGGTGGATCCTGTTCATGG	0.582																																					GBM(18;201 575 7820 21545)	uc002mqk.3		NaN																	2	Substitution - Missense(1)|Unknown(1)		urinary_tract(1)|lung(1)	ovary(2)|skin(2)	4	GRCh37	CM920460	LDLR	M		c.(1576-1578)CCT>TCT		low density lipoprotein receptor precursor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						96.0	75.0	82.0					19																	11224428		2203	4300	6503	SO:0001583	missense	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11224428C>T	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1576C>T	19.37:g.11224428C>T	ENSP00000454071:p.Pro526Ser					LDLR_uc010xlk.1_Missense_Mutation_p.P526S|LDLR_uc010xll.1_Missense_Mutation_p.P485S|LDLR_uc010xlm.1_Missense_Mutation_p.P379S|LDLR_uc010xln.1_Missense_Mutation_p.P399S|LDLR_uc010xlo.1_Missense_Mutation_p.P358S	p.P526S	NM_000527	NP_000518	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	10	1744	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	526		P -> S (in Cincinnati-3).	Extracellular (Potential).|LDL-receptor class B 3.		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	c.1576C>T	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939460	0.73557	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.95412	-3.7;-3.7;-3.7	4.72	4.72	0.59763	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	D	0.000020	D	0.98128	0.9382	M	0.91406	3.205	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.997;1.0;1.0	D	0.99457	1.0942	10	0.87932	D	0	.	16.4495	0.83974	0.0:1.0:0.0:0.0	.	358;399;405;485;538;526	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	S	526;399;485;358	ENSP00000437639:P399S;ENSP00000440520:P485S;ENSP00000397829:P358S	ENSP00000252444:P526S	P	+	1	0	LDLR	11085428	1.000000	0.71417	0.904000	0.35570	0.389000	0.30415	7.325000	0.79124	2.186000	0.69663	0.555000	0.69702	CCT		0.582	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2				43	46	0	0	0	0.009718	0	43	46		
PLAUR	5329	broad.mit.edu	37	19	44169567	44169567	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr19:44169567C>G	ENST00000340093.3	-	3	440	c.211G>C	c.(211-213)Gag>Cag	p.E71Q	PLAUR_ENST00000221264.4_Missense_Mutation_p.E71Q|PLAUR_ENST00000339082.3_Missense_Mutation_p.E71Q|AC006953.1_ENST00000580312.1_RNA|PLAUR_ENST00000601723.1_Missense_Mutation_p.E71Q	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	71	UPAR/Ly6 1.				attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)	p.E71Q(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TTGGTCTTCTCTGAGTGGGTA	0.547																																						uc002oxf.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(211-213)GAG>CAG		plasminogen activator, urokinase receptor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)						234.0	179.0	198.0					19																	44169567		2203	4300	6503	SO:0001583	missense	5329				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity	g.chr19:44169567C>G		CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"""CD molecules"""	9053	protein-coding gene	gene with protein product	"""urokinase-type plasminogen activator (uPA) receptor"", ""urokinase plasminogen activator surface receptor"""	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.211G>C	19.37:g.44169567C>G	ENSP00000339328:p.Glu71Gln					PLAUR_uc002oxd.1_Missense_Mutation_p.E71Q|PLAUR_uc002oxe.1_Missense_Mutation_p.E66Q|PLAUR_uc002oxg.1_Missense_Mutation_p.E71Q	p.E71Q	NM_002659	NP_002650	Q03405	UPAR_HUMAN			3	441	-		Prostate(69;0.0153)	71			UPAR/Ly6 1.		A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	Missense_Mutation	SNP	ENST00000340093.3	37	c.211G>C	CCDS12628.1	.	.	.	.	.	.	.	.	.	.	c	8.928	0.962837	0.18583	.	.	ENSG00000011422	ENST00000339082;ENST00000340093;ENST00000221264	T;T;T	0.70749	-0.51;-0.51;-0.51	3.84	2.7	0.31948	Ly-6 antigen / uPA receptor -like (1);CD59 antigen (1);	1.599310	0.04394	N	0.362905	T	0.68742	0.3034	M	0.66939	2.045	0.09310	N	1	P;P;P;P	0.46512	0.879;0.53;0.763;0.814	B;B;B;B	0.40165	0.279;0.192;0.294;0.321	T	0.56786	-0.7921	10	0.59425	D	0.04	-0.0371	6.128	0.20189	0.0:0.8353:0.0:0.1647	.	71;71;71;71	Q03405-3;Q03405;Q9UPI5;Q03405-2	.;UPAR_HUMAN;.;.	Q	71	ENSP00000342049:E71Q;ENSP00000339328:E71Q;ENSP00000221264:E71Q	ENSP00000221264:E71Q	E	-	1	0	PLAUR	48861407	0.924000	0.31332	0.156000	0.22583	0.554000	0.35429	1.933000	0.40153	0.743000	0.32719	0.282000	0.19409	GAG		0.547	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463571.1		NM_002659		27	82	0	0	0	0.015359	0	27	82		
PLAUR	5329	broad.mit.edu	37	19	44169588	44169588	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr19:44169588C>G	ENST00000340093.3	-	3	419	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	PLAUR_ENST00000221264.4_Missense_Mutation_p.E64Q|PLAUR_ENST00000339082.3_Missense_Mutation_p.E64Q|AC006953.1_ENST00000580312.1_RNA|PLAUR_ENST00000601723.1_Missense_Mutation_p.E64Q	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	64	UPAR/Ly6 1.				attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)	p.E64Q(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CAGCTTTTCTCCACCAGCTCC	0.542																																						uc002oxf.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(190-192)GAG>CAG		plasminogen activator, urokinase receptor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)						209.0	162.0	178.0					19																	44169588		2203	4300	6503	SO:0001583	missense	5329				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity	g.chr19:44169588C>G		CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"""CD molecules"""	9053	protein-coding gene	gene with protein product	"""urokinase-type plasminogen activator (uPA) receptor"", ""urokinase plasminogen activator surface receptor"""	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.190G>C	19.37:g.44169588C>G	ENSP00000339328:p.Glu64Gln					PLAUR_uc002oxd.1_Missense_Mutation_p.E64Q|PLAUR_uc002oxe.1_Missense_Mutation_p.E59Q|PLAUR_uc002oxg.1_Missense_Mutation_p.E64Q	p.E64Q	NM_002659	NP_002650	Q03405	UPAR_HUMAN			3	420	-		Prostate(69;0.0153)	64			UPAR/Ly6 1.		A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	Missense_Mutation	SNP	ENST00000340093.3	37	c.190G>C	CCDS12628.1	.	.	.	.	.	.	.	.	.	.	c	6.023	0.372662	0.11409	.	.	ENSG00000011422	ENST00000339082;ENST00000340093;ENST00000221264	T;T;T	0.69561	-0.41;-0.41;-0.41	3.84	-1.48	0.08745	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);CD59 antigen (1);	2.338580	0.02450	N	0.085465	T	0.58722	0.2142	L	0.57536	1.79	0.09310	N	1	P;P;P;P	0.44281	0.782;0.831;0.831;0.632	B;B;B;B	0.39738	0.308;0.302;0.302;0.134	T	0.49390	-0.8945	10	0.35671	T	0.21	0.1235	2.8682	0.05608	0.3724:0.3918:0.0:0.2357	.	64;64;64;64	Q03405-3;Q03405;Q9UPI5;Q03405-2	.;UPAR_HUMAN;.;.	Q	64	ENSP00000342049:E64Q;ENSP00000339328:E64Q;ENSP00000221264:E64Q	ENSP00000221264:E64Q	E	-	1	0	PLAUR	48861428	0.124000	0.22315	0.128000	0.21923	0.435000	0.31806	0.319000	0.19522	-0.010000	0.14271	0.282000	0.19409	GAG		0.542	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463571.1		NM_002659		26	84	0	0	0	0.007291	0	26	84		
ZNF221	7638	broad.mit.edu	37	19	44471003	44471003	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr19:44471003A>G	ENST00000251269.5	+	6	1677	c.1349A>G	c.(1348-1350)tAt>tGt	p.Y450C	ZNF221_ENST00000592350.1_Missense_Mutation_p.Y450C|ZNF221_ENST00000587682.1_Missense_Mutation_p.Y450C	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	450					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y450C(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GAAAAGCCATATAACTGTGAG	0.423																																						uc002oxx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(1348-1350)TAT>TGT		zinc finger protein 221							68.0	66.0	67.0					19																	44471003		2203	4300	6503	SO:0001583	missense	7638				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44471003A>G	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.1349A>G	19.37:g.44471003A>G	ENSP00000251269:p.Tyr450Cys					ZNF221_uc010ejb.1_Missense_Mutation_p.Y450C|ZNF221_uc010xws.1_Missense_Mutation_p.Y450C	p.Y450C	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN			6	1677	+		Prostate(69;0.0352)	450			C2H2-type 11.		B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	37	c.1349A>G	CCDS12633.1	.	.	.	.	.	.	.	.	.	.	a	14.98	2.696663	0.48202	.	.	ENSG00000159905	ENST00000251269	T	0.25414	1.8	2.54	-1.65	0.08291	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45316	0.1336	M	0.80616	2.505	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.31752	-0.9932	9	0.87932	D	0	.	4.6264	0.12481	0.2573:0.0:0.1184:0.6243	.	450	Q9UK13	ZN221_HUMAN	C	450	ENSP00000251269:Y450C	ENSP00000251269:Y450C	Y	+	2	0	ZNF221	49162843	0.000000	0.05858	0.000000	0.03702	0.643000	0.38383	0.270000	0.18607	-0.685000	0.05177	0.260000	0.18958	TAT		0.423	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1				10	83	0	0	0	0.006214	0	10	83		
CACNG8	59283	broad.mit.edu	37	19	54483190	54483190	+	Missense_Mutation	SNP	T	T	G	rs202244345	byFrequency	TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr19:54483190T>G	ENST00000270458.2	+	3	540	c.437T>G	c.(436-438)gTg>gGg	p.V146G	MIR935_ENST00000401179.1_RNA	NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	146					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.V146G(2)		kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GGTGTGTGCGTGGCGGCCTCC	0.647																																						uc002qcs.1		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|kidney(1)		0						c.(433-435)GTG>GGG		voltage-dependent calcium channel gamma-8							34.0	35.0	35.0					19																	54483190		2203	4300	6503	SO:0001583	missense	59283				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54483190T>G	AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"""Calcium channel subunits"""	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.437T>G	19.37:g.54483190T>G	ENSP00000270458:p.Val146Gly					MIR935_hsa-mir-935|MI0005757_5'Flank	p.V145G	NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN		GBM - Glioblastoma multiforme(134;0.162)	3	540	+	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)		146			Helical; (Potential).		Q9BXT0|Q9BY23	Missense_Mutation	SNP	ENST00000270458.2	37	c.434T>G	CCDS33104.1	.	.	.	.	.	.	.	.	.	.	.	26.5	4.741359	0.89573	.	.	ENSG00000142408	ENST00000270458	D	0.89415	-2.51	4.53	4.53	0.55603	.	0.191865	0.32671	U	0.005796	D	0.90947	0.7154	L	0.39633	1.23	0.32725	N	0.509773	D	0.76494	0.999	D	0.73380	0.98	D	0.93456	0.6806	9	0.72032	D	0.01	4.3012	12.2158	0.54406	0.0:0.0:0.0:1.0	.	146	Q8WXS5	CCG8_HUMAN	G	146	ENSP00000270458:V146G	ENSP00000270458:V146G	V	+	2	0	CACNG8	59175002	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.508000	0.81686	1.851000	0.53745	0.434000	0.28630	GTG		0.647	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3				4	21	0	0	0	0.009096	0	4	21		
PXDN	7837	broad.mit.edu	37	2	1652125	1652125	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:1652125G>T	ENST00000252804.4	-	17	3477	c.3427C>A	c.(3427-3429)Ctg>Atg	p.L1143M		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1143					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.L1143M(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATGGAGAACAGCCGCTCCGTG	0.652																																						uc002qxa.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(6)|ovary(2)	8						c.(3427-3429)CTG>ATG		peroxidasin precursor							51.0	62.0	58.0					2																	1652125		2063	4222	6285	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652125G>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3427C>A	2.37:g.1652125G>T	ENSP00000252804:p.Leu1143Met						p.L1143M	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	3491	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1143					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.3427C>A	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982745	0.74474	.	.	ENSG00000130508	ENST00000252804	T	0.72167	-0.63	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.87026	0.6075	M	0.87547	2.89	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.88504	0.3084	10	0.72032	D	0.01	-45.9823	19.6424	0.95763	0.0:0.0:1.0:0.0	.	1143	Q92626	PXDN_HUMAN	M	1143	ENSP00000252804:L1143M	ENSP00000252804:L1143M	L	-	1	2	PXDN	1631132	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	4.855000	0.62925	2.645000	0.89757	0.650000	0.86243	CTG		0.652	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1		XM_056455		3	31	1	0	0.00909568	0.009096	0.00943256	3	31		
C2orf44	80304	broad.mit.edu	37	2	24253912	24253912	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:24253912G>C	ENST00000295148.4	-	4	2114	c.2057C>G	c.(2056-2058)tCt>tGt	p.S686C	C2orf44_ENST00000406895.3_3'UTR	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	686								p.S686C(1)	C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAGAAAAAGAGTCTCTGAA	0.473			T	ALK	NSCLC																																	uc002rep.2		NaN		Dom	yes		2	2p23.3	80304		chromosome 2 open reading frame 44			E					1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(2056-2058)TCT>TGT		hypothetical protein LOC80304 isoform 1							100.0	97.0	98.0					2																	24253912		2203	4300	6503	SO:0001583	missense	80304						protein binding	g.chr2:24253912G>C	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.2057C>G	2.37:g.24253912G>C	ENSP00000295148:p.Ser686Cys					C2orf44_uc010eya.2_3'UTR	p.S686C	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN			4	2188	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		686					D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	ENST00000295148.4	37	c.2057C>G	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840333	0.32513	.	.	ENSG00000163026	ENST00000295148	T	0.48836	0.8	4.27	3.29	0.37713	.	1.438640	0.04721	U	0.419387	T	0.44932	0.1317	N	0.08118	0	0.22199	N	0.999293	D	0.65815	0.995	P	0.55824	0.785	T	0.52094	-0.8621	10	0.49607	T	0.09	-3.0924	10.9527	0.47339	0.0:0.0:0.8132:0.1868	.	686	Q9H6R7	CB044_HUMAN	C	686	ENSP00000295148:S686C	ENSP00000295148:S686C	S	-	2	0	C2orf44	24107416	0.028000	0.19301	0.008000	0.14137	0.401000	0.30781	2.113000	0.41902	2.317000	0.78254	0.460000	0.39030	TCT		0.473	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1		NM_025203		14	64	0	0	0	0.016723	0	14	64		
USP34	9736	broad.mit.edu	37	2	61415533	61415533	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:61415533C>G	ENST00000398571.2	-	80	10421	c.10345G>C	c.(10345-10347)Gaa>Caa	p.E3449Q	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3449					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.E3449Q(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCTTTAAATTCTTTACAATCG	0.418																																						uc002sbe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(10345-10347)GAA>CAA		ubiquitin specific protease 34							90.0	84.0	86.0					2																	61415533		1887	4132	6019	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61415533C>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.10345G>C	2.37:g.61415533C>G	ENSP00000381577:p.Glu3449Gln					USP34_uc002sbd.2_Missense_Mutation_p.E251Q	p.E3449Q	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		80	10367	-			3449					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.10345G>C	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.67|14.67	2.604914|2.604914	0.46423|0.46423	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000436269|ENST00000411912	T|.	0.03889|.	3.77|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.120326|.	0.56097|.	D|.	0.000030|.	T|T	0.54806|0.54806	0.1881|0.1881	N|N	0.19112|0.19112	0.55|0.55	0.47949|0.47949	D|D	0.999552|0.999552	B|.	0.23058|.	0.079|.	B|.	0.18871|.	0.023|.	T|T	0.47761|0.47761	-0.9092|-0.9092	10|5	0.46703|.	T|.	0.11|.	.|.	19.8041|19.8041	0.96521|0.96521	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3449|.	Q70CQ2|.	UBP34_HUMAN|.	Q|T	3297;3214;3449;327|1125	ENSP00000381577:E3449Q|.	ENSP00000263989:E3297Q|.	E|R	-|-	1|2	0|0	USP34|USP34	61269037|61269037	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.715000|0.715000	0.41141|0.41141	6.553000|6.553000	0.73918|0.73918	2.748000|2.748000	0.94277|0.94277	0.591000|0.591000	0.81541|0.81541	GAA|AGA		0.418	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4				30	118	0	0	0	0.007291	0	30	118		
USP34	9736	broad.mit.edu	37	2	61607465	61607465	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:61607465G>A	ENST00000398571.2	-	7	929	c.853C>T	c.(853-855)Cga>Tga	p.R285*		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	285					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R285*(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GCACTCTGTCGTAACTCCTGA	0.368																																						uc002sbe.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(853-855)CGA>TGA		ubiquitin specific protease 34							106.0	92.0	96.0					2																	61607465		1891	4119	6010	SO:0001587	stop_gained	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61607465G>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.853C>T	2.37:g.61607465G>A	ENSP00000381577:p.Arg285*						p.R285*	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		7	875	-			285					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Nonsense_Mutation	SNP	ENST00000398571.2	37	c.853C>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999830	0.93227	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	.	.	.	5.2	-0.0234	0.13943	.	0.117422	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0792	0.42379	0.0763:0.0:0.3927:0.5309	.	.	.	.	X	133;133;285	.	ENSP00000263989:R133X	R	-	1	2	USP34	61460969	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	1.038000	0.30254	0.171000	0.19730	0.557000	0.71058	CGA		0.368	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4				8	74	0	0	0	0.006214	0	8	74		
TANC1	85461	broad.mit.edu	37	2	160033027	160033027	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:160033027C>A	ENST00000263635.6	+	13	2137	c.1900C>A	c.(1900-1902)Cag>Aag	p.Q634K	TANC1_ENST00000454300.1_Missense_Mutation_p.Q528K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	634					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.Q634K(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AGCAAATTTTCAGGTAACAAA	0.323																																						uc002uag.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(1900-1902)CAG>AAG		tetratricopeptide repeat, ankyrin repeat and							76.0	70.0	72.0					2																	160033027		1819	4076	5895	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160033027C>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.1900C>A	2.37:g.160033027C>A	ENSP00000263635:p.Gln634Lys					TANC1_uc010fol.1_Missense_Mutation_p.Q528K|TANC1_uc010zcm.1_Missense_Mutation_p.Q626K|TANC1_uc010fom.1_Missense_Mutation_p.Q440K|TANC1_uc002uai.1_RNA	p.Q634K	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			13	2174	+			634					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.1900C>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.382887	0.25031	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.68181	-0.29;-0.31	5.98	5.98	0.97165	.	0.114142	0.64402	D	0.000008	T	0.59783	0.2219	L	0.49640	1.575	0.46298	D	0.998973	P;P;P	0.46859	0.791;0.867;0.885	B;B;B	0.38616	0.138;0.269;0.277	T	0.59289	-0.7482	10	0.07644	T	0.81	.	20.4434	0.99119	0.0:1.0:0.0:0.0	.	626;528;634	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	K	528;634	ENSP00000396339:Q528K;ENSP00000263635:Q634K	ENSP00000263635:Q634K	Q	+	1	0	TANC1	159741273	0.988000	0.35896	1.000000	0.80357	0.996000	0.88848	2.296000	0.43584	2.838000	0.97847	0.655000	0.94253	CAG		0.323	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1				16	55	1	0	1.67942e-08	0.006122	1.84924e-08	16	55		
TTN	7273	broad.mit.edu	37	2	179616159	179616159	+	Intron	SNP	A	A	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:179616159A>C	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Silent_p.T3656T|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAAATGTATAGTTCTCATCA	0.348																																						uc002unb.2		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(10966-10968)ACT>ACG		titin isoform novex-3							134.0	122.0	126.0					2																	179616159		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179616159A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1691T>G	2.37:g.179616159A>C						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.T3656T	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11192	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.10968T>G																																																																																					0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		6	121	0	0	0	0.001168	0	6	121		
ITGA4	3676	broad.mit.edu	37	2	182359492	182359492	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:182359492G>A	ENST00000397033.2	+	12	1722	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	431					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)	p.G431V(1)|p.G431E(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	AGTATGTTTGGACAGTCTATA	0.308																																						uc002unu.2		NaN																	2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|urinary_tract(1)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(1291-1293)GGA>GAA		integrin alpha 4 precursor	Natalizumab(DB00108)						161.0	152.0	155.0					2																	182359492		1828	4088	5916	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182359492G>A		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1292G>A	2.37:g.182359492G>A	ENSP00000380227:p.Gly431Glu						p.G431E	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		12	2055	+			431			FG-GAP 7.|Extracellular (Potential).		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.1292G>A	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642936	0.87859	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.65178	-0.14;-0.14	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.86855	0.6033	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90215	0.4267	10	0.87932	D	0	.	20.126	0.97982	0.0:0.0:1.0:0.0	.	431	P13612	ITA4_HUMAN	E	431	ENSP00000380227:G431E;ENSP00000233573:G431E	ENSP00000233573:G431E	G	+	2	0	ITGA4	182067737	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.159000	0.77483	2.749000	0.94314	0.655000	0.94253	GGA		0.308	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1				5	148	0	0	0	0.00308	0	5	148		
PMS1	5378	broad.mit.edu	37	2	190719590	190719590	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:190719590A>G	ENST00000441310.2	+	9	1825	c.1592A>G	c.(1591-1593)aAt>aGt	p.N531S	PMS1_ENST00000432292.3_Missense_Mutation_p.N355S|PMS1_ENST00000418224.3_Missense_Mutation_p.N355S|PMS1_ENST00000447232.2_Missense_Mutation_p.N531S|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000409823.3_Missense_Mutation_p.N492S	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	531					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)	p.N531S(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GTAAGTAATAATAATTATCCA	0.284			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														uc002urh.3		NaN	yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	Mis|N	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		colorectal|endometrial|ovarian			1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(1591-1593)AAT>AGT	Direct_reversal_of_damage|MMR	postmeiotic segregation 1 isoform a							35.0	40.0	38.0					2																	190719590		2187	4291	6478	SO:0001583	missense	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190719590A>G		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.1592A>G	2.37:g.190719590A>G	ENSP00000406490:p.Asn531Ser					PMS1_uc010zga.1_Missense_Mutation_p.N492S|PMS1_uc010zgb.1_Missense_Mutation_p.N470S|PMS1_uc002urk.3_Missense_Mutation_p.N492S|PMS1_uc002uri.3_Missense_Mutation_p.N531S|PMS1_uc010zgc.1_Missense_Mutation_p.N355S|PMS1_uc010zgd.1_Missense_Mutation_p.N355S|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.N492S|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Missense_Mutation_p.N316S|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Missense_Mutation_p.N199S	p.N531S	NM_000534	NP_000525	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		9	2121	+			531					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.1592A>G	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.215987	0.00289	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000424307;ENST00000409593	D;D;D;D;D;D;D	0.96334	-2.27;-1.96;-2.43;-2.8;-1.96;-2.1;-3.98	4.37	-0.643	0.11482	.	1.309040	0.04221	N	0.333544	D	0.91331	0.7266	L	0.31294	0.92	0.09310	N	1	B;B;B;B;B;B;B	0.13145	0.004;0.003;0.001;0.007;0.007;0.001;0.004	B;B;B;B;B;B;B	0.09377	0.002;0.001;0.001;0.003;0.004;0.001;0.004	T	0.81435	-0.0934	10	0.11485	T	0.65	-1.8163	6.8199	0.23851	0.4787:0.1293:0.392:0.0	.	531;492;492;316;492;531;531	Q4VAL4;B4DMF4;Q5FBZ9;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;.;.;PMS1_HUMAN	S	355;531;355;492;531;355;470;316	ENSP00000406490:N531S;ENSP00000404492:N355S;ENSP00000387125:N492S;ENSP00000401064:N531S;ENSP00000398378:N355S;ENSP00000389938:N470S;ENSP00000387169:N316S	ENSP00000376149:N355S	N	+	2	0	PMS1	190427835	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-0.183000	0.09712	-0.019000	0.14055	-0.361000	0.07541	AAT		0.284	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2				33	33	0	0	0	0.013726	0	33	33		
SF3B1	23451	broad.mit.edu	37	2	198265453	198265453	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:198265453C>T	ENST00000335508.6	-	18	2795	c.2704G>A	c.(2704-2706)Gaa>Aaa	p.E902K	SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	902					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.E902K(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTAGTCTGTTCTTGGAAAGCA	0.318			Mis		myelodysplastic syndrome																																	uc002uue.2		NaN		Dom	yes		2	2q33.1	23451		"""splicing factor 3b, subunit 1, 155kDa"""			L					1	Substitution - Missense(1)		urinary_tract(1)	pancreas(3)|ovary(1)|breast(1)|skin(1)	6						c.(2704-2706)GAA>AAA		splicing factor 3b, subunit 1 isoform 1							123.0	120.0	121.0					2																	198265453		2202	4300	6502	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198265453C>T	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2704G>A	2.37:g.198265453C>T	ENSP00000335321:p.Glu902Lys						p.E902K	NM_012433	NP_036565	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		18	2752	-			902					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2704G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052147	0.93793	.	.	ENSG00000115524	ENST00000335508	.	.	.	5.61	5.61	0.85477	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86514	0.5951	M	0.93763	3.455	0.80722	D	1	D	0.69078	0.997	D	0.65987	0.94	D	0.88881	0.3339	9	0.62326	D	0.03	.	20.0015	0.97412	0.0:1.0:0.0:0.0	.	902	O75533	SF3B1_HUMAN	K	902	.	ENSP00000335321:E902K	E	-	1	0	SF3B1	197973698	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.976000	0.70484	2.803000	0.96430	0.655000	0.94253	GAA		0.318	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2				87	37	0	0	0	0.01441	0	87	37		
SATB2	23314	broad.mit.edu	37	2	200137185	200137185	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:200137185G>A	ENST00000417098.1	-	11	2767	c.1951C>T	c.(1951-1953)Cag>Tag	p.Q651*	SATB2_ENST00000443023.1_Nonsense_Mutation_p.Q592*|SATB2_ENST00000457245.1_Nonsense_Mutation_p.Q651*|SATB2_ENST00000428695.1_Nonsense_Mutation_p.Q533*|SATB2_ENST00000260926.5_Nonsense_Mutation_p.Q651*	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	651					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.Q651*(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGATCCAGCTGAGCCGAAAGA	0.542																																					Colon(30;262 767 11040 24421 36230)	uc002uuy.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)	1						c.(1951-1953)CAG>TAG		SATB homeobox 2							139.0	123.0	128.0					2																	200137185		2203	4300	6503	SO:0001587	stop_gained	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200137185G>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1951C>T	2.37:g.200137185G>A	ENSP00000401112:p.Gln651*					SATB2_uc010fsq.1_Nonsense_Mutation_p.Q533*|SATB2_uc002uuz.1_Nonsense_Mutation_p.Q651*|SATB2_uc002uva.1_Nonsense_Mutation_p.Q651*	p.Q651*	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			11	2768	-			651			Homeobox.		A8K5Z8|Q3ZB87|Q4V763	Nonsense_Mutation	SNP	ENST00000417098.1	37	c.1951C>T	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	G	40	8.159213	0.98683	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-19.6754	19.762	0.96323	0.0:0.0:1.0:0.0	.	.	.	.	X	651;592;651;533;651	.	ENSP00000260926:Q651X	Q	-	1	0	SATB2	199845430	1.000000	0.71417	0.971000	0.41717	0.957000	0.61999	9.813000	0.99286	2.741000	0.93983	0.650000	0.86243	CAG		0.542	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1		NM_015265		20	108	0	0	0	0.007413	0	20	108		
VIL1	7429	broad.mit.edu	37	2	219290520	219290520	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:219290520C>T	ENST00000248444.5	+	4	421	c.333C>T	c.(331-333)ttC>ttT	p.F111F	VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Silent_p.F111F	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	111	Core.|Necessary for homodimerization.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)	p.F111F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGCTACTTCAAGCAAGGCC	0.612																																						uc002via.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(331-333)TTC>TTT		villin 1							60.0	54.0	56.0					2																	219290520		2203	4300	6503	SO:0001819	synonymous_variant	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219290520C>T	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.333C>T	2.37:g.219290520C>T						VIL1_uc010zke.1_Intron|VIL1_uc002vib.2_Silent_p.F111F|VIL1_uc002vic.1_Silent_p.F111F	p.F111F	NM_007127	NP_009058	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	398	+		Renal(207;0.0474)	111			Core.|Necessary for homodimerization.		B2R9A7|Q53S11|Q96AC8	Silent	SNP	ENST00000248444.5	37	c.333C>T	CCDS2417.1																																																																																				0.612	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3		NM_007127		39	30	0	0	0	0.006999	0	39	30		
SLC23A3	151295	broad.mit.edu	37	2	220034109	220034109	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:220034109G>C	ENST00000409878.3	-	3	372	c.340C>G	c.(340-342)Cca>Gca	p.P114A	SLC23A3_ENST00000396775.3_Missense_Mutation_p.P56A|SLC23A3_ENST00000455516.2_Missense_Mutation_p.P114A|SLC23A3_ENST00000295738.7_Missense_Mutation_p.P114A	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	114					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.P114A(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTAAGGATGGAGCCTGGACA	0.597																																						uc010zks.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(340-342)CCA>GCA		solute carrier family 23 (nucleobase							88.0	92.0	91.0					2																	220034109		1975	4173	6148	SO:0001583	missense	151295				transmembrane transport	integral to membrane	protein binding|transporter activity	g.chr2:220034109G>C	BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"""Solute carriers"""	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.340C>G	2.37:g.220034109G>C	ENSP00000386473:p.Pro114Ala					NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Missense_Mutation_p.P114A|SLC23A3_uc010fwb.2_Missense_Mutation_p.P114A|SLC23A3_uc002vjs.1_5'Flank|SLC23A3_uc002vjt.1_5'UTR	p.P114A	NM_001144889	NP_001138361	Q6PIS1	S23A3_HUMAN		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	451	-		Renal(207;0.0474)	114			Cytoplasmic (Potential).		B7Z512|Q2PYN6|Q96NA6	Missense_Mutation	SNP	ENST00000409878.3	37	c.340C>G	CCDS46518.1	.	.	.	.	.	.	.	.	.	.	G	9.507	1.104650	0.20632	.	.	ENSG00000213901	ENST00000396775;ENST00000295738;ENST00000409878;ENST00000455516;ENST00000409370	T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000002	T	0.33644	0.0870	L	0.41710	1.295	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	T	0.01725	-1.1287	9	.	.	.	.	17.6336	0.88116	0.0:0.0:1.0:0.0	.	114;114;114	Q6PIS1;B7Z512;Q6PIS1-2	S23A3_HUMAN;.;.	A	56;114;114;114;114	ENSP00000379996:P56A;ENSP00000295738:P114A;ENSP00000386473:P114A;ENSP00000406546:P114A;ENSP00000386989:P114A	.	P	-	1	0	SLC23A3	219742353	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.140000	0.71738	2.495000	0.84180	0.655000	0.94253	CCA		0.597	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2		NM_144712		93	60	0	0	0	0.01441	0	93	60		
OBSL1	23363	broad.mit.edu	37	2	220422740	220422740	+	Missense_Mutation	SNP	G	G	A	rs143517287	byFrequency	TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:220422740G>A	ENST00000404537.1	-	11	3651	c.3595C>T	c.(3595-3597)Cgg>Tgg	p.R1199W	OBSL1_ENST00000265317.5_Missense_Mutation_p.R190W|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000265318.4_Missense_Mutation_p.R1107W|OBSL1_ENST00000373876.1_Missense_Mutation_p.R1199W|OBSL1_ENST00000603926.1_Missense_Mutation_p.R1199W	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1199	Ig-like 10.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)	p.R1199W(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCGCCAGCCCGGGACAGTTCA	0.667													G|||	9	0.00179712	0.0068	0.0	5008	,	,		15645	0.0		0.0	False		,,,				2504	0.0					uc010fwk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(3595-3597)CGG>TGG		obscurin-like 1		G	TRP/ARG,TRP/ARG	32,3870		0,32,1919	17.0	20.0	19.0		3595,3595	2.2	1.0	2	dbSNP_134	19	4,8262		0,4,4129	yes	missense,missense	OBSL1	NM_001173431.1,NM_015311.2	101,101	0,36,6048	AA,AG,GG		0.0484,0.8201,0.2959	probably-damaging,probably-damaging	1199/1544,1199/1897	220422740	36,12132	1951	4133	6084	SO:0001583	missense	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220422740G>A	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.3595C>T	2.37:g.220422740G>A	ENSP00000385636:p.Arg1199Trp					OBSL1_uc002vmh.1_Missense_Mutation_p.R190W|OBSL1_uc010zli.1_Missense_Mutation_p.R98W|OBSL1_uc010fwl.1_Missense_Mutation_p.R674W	p.R1199W	NM_015311	NP_056126	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	11	3652	-		Renal(207;0.0376)	1199			Ig-like 10.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.3595C>T	CCDS46520.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	G	15.48	2.846163	0.51164	0.008201	4.84E-4	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000265317	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	4.16	2.16	0.27623	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77239	0.4101	M	0.87827	2.91	0.36865	D	0.888592	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.994;0.99;0.997;0.993	D	0.84714	0.0736	9	0.66056	D	0.02	.	12.1845	0.54229	0.0:0.0:0.6956:0.3044	.	98;1200;1199;190	B7Z5P5;A4KVA4;O75147;E7ER99	.;.;OBSL1_HUMAN;.	W	1107;1199;1199;190	ENSP00000265318:R1107W;ENSP00000385636:R1199W;ENSP00000362983:R1199W;ENSP00000265317:R190W	ENSP00000265317:R190W	R	-	1	2	OBSL1	220130984	0.139000	0.22563	0.993000	0.49108	0.476000	0.33039	0.229000	0.17833	0.873000	0.35799	0.313000	0.20887	CGG		0.667	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1				11	15	0	0	0	0.010729	0	11	15		
CAPN10	11132	broad.mit.edu	37	2	241536312	241536312	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:241536312C>T	ENST00000391984.2	+	9	1892	c.1696C>T	c.(1696-1698)Cgg>Tgg	p.R566W	CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000354082.4_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.R566W|CAPN10_ENST00000270364.7_Intron	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	566	Domain III 2.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)	p.R566W(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TCAGCACTGCCGGCCCAGTGA	0.647																																						uc002vzk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|large_intestine(2)|lung(1)	6						c.(1696-1698)CGG>TGG		calpain 10 isoform a							34.0	40.0	38.0					2																	241536312		2054	4189	6243	SO:0001583	missense	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241536312C>T	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.1696C>T	2.37:g.241536312C>T	ENSP00000375844:p.Arg566Trp					CAPN10_uc002vzl.1_Intron|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Missense_Mutation_p.R438W|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_Intron|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron	p.R566W	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	9	1880	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	566			Domain III 2.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Missense_Mutation	SNP	ENST00000391984.2	37	c.1696C>T	CCDS42838.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371684	0.61624	.	.	ENSG00000142330	ENST00000391984;ENST00000404753	D;D	0.88818	-2.43;-2.43	4.92	4.01	0.46588	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.634983	0.15829	U	0.242595	D	0.89615	0.6766	M	0.76170	2.325	0.80722	D	1	D;P	0.59767	0.986;0.953	P;P	0.46585	0.521;0.521	D	0.89039	0.3447	10	0.87932	D	0	.	11.5057	0.50466	0.0:0.6489:0.3511:0.0	.	566;566	B7WPF5;Q9HC96	.;CAN10_HUMAN	W	566	ENSP00000375844:R566W;ENSP00000384422:R566W	ENSP00000375844:R566W	R	+	1	2	CAPN10	241184985	1.000000	0.71417	0.781000	0.31783	0.386000	0.30323	4.223000	0.58587	1.006000	0.39211	0.655000	0.94253	CGG		0.647	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3		NM_023083		27	25	0	0	0	0.00632	0	27	25		
GZF1	64412	broad.mit.edu	37	20	23351021	23351021	+	Silent	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr20:23351021G>C	ENST00000338121.5	+	6	2156	c.2079G>C	c.(2077-2079)ctG>ctC	p.L693L	GZF1_ENST00000544236.1_Silent_p.L217L|GZF1_ENST00000377051.2_Silent_p.L693L|GZF1_ENST00000542987.1_Silent_p.L202L			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	693					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)	p.L693L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TTAGCGAGCTGACCCCACAGA	0.547																																						uc010gdb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	kidney(1)	1						c.(2077-2079)CTG>CTC		GDNF-inducible zinc finger protein 1							73.0	72.0	73.0					20																	23351021		2203	4300	6503	SO:0001819	synonymous_variant	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23351021G>C	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.2079G>C	20.37:g.23351021G>C						GZF1_uc002wsy.2_Silent_p.L693L|GZF1_uc010zsq.1_Silent_p.L217L|GZF1_uc010zsr.1_Silent_p.L202L|GZF1_uc002wsz.2_Silent_p.L693L	p.L693L	NM_022482	NP_071927	Q9H116	GZF1_HUMAN			7	2253	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		693					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Silent	SNP	ENST00000338121.5	37	c.2079G>C	CCDS13151.1																																																																																				0.547	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1		NM_022482		40	95	0	0	0	0.006999	0	40	95		
MYH7B	57644	broad.mit.edu	37	20	33577935	33577935	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr20:33577935C>T	ENST00000262873.7	+	19	2104	c.2012C>T	c.(2011-2013)gCg>gTg	p.A671V	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	629	Actin-binding. {ECO:0000250}.|Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A671V(2)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAGAATTATGCGGGCTCCTGC	0.547																																						uc002xbi.1		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	ovary(1)|breast(1)	2						c.(2011-2013)GCG>GTG		myosin, heavy polypeptide 7B, cardiac muscle,							85.0	93.0	90.0					20																	33577935		2093	4225	6318	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33577935C>T	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2012C>T	20.37:g.33577935C>T	ENSP00000262873:p.Ala671Val					MIR499_hsa-mir-499|MI0003183_5'Flank	p.A671V	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		19	2104	+			629			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.2012C>T	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	8.249	0.808473	0.16467	.	.	ENSG00000078814	ENST00000262873	D	0.87966	-2.32	4.59	4.59	0.56863	Myosin head, motor domain (2);	0.203453	0.24633	N	0.036873	T	0.73737	0.3625	N	0.19112	0.55	0.25778	N	0.984766	B	0.11235	0.004	B	0.04013	0.001	T	0.56189	-0.8020	10	0.22706	T	0.39	.	5.4356	0.16480	0.0:0.7552:0.0:0.2448	.	629	A7E2Y1	MYH7B_HUMAN	V	671	ENSP00000262873:A671V	ENSP00000262873:A671V	A	+	2	0	MYH7B	33041596	0.135000	0.22499	0.969000	0.41365	0.450000	0.32258	2.110000	0.41873	2.387000	0.81309	0.511000	0.50034	GCG		0.547	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2		NM_020884		6	224	0	0	0	0.001168	0	6	224		
SRC	6714	broad.mit.edu	37	20	36012573	36012573	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr20:36012573G>A	ENST00000373578.2	+	4	366	c.17G>A	c.(16-18)aGc>aAc	p.S6N	SRC_ENST00000445403.1_Missense_Mutation_p.S6N|SRC_ENST00000373567.2_Missense_Mutation_p.S6N|SRC_ENST00000360723.4_Missense_Mutation_p.S6N|SRC_ENST00000373558.2_Missense_Mutation_p.S6N|SRC_ENST00000358208.4_Missense_Mutation_p.S6N	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	6					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)	p.S6N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	AGCAACAAGAGCAAGCCCAAG	0.701																																						uc002xgx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1)	13						c.(16-18)AGC>AAC		proto-oncogene tyrosine-protein kinase SRC	Dasatinib(DB01254)						15.0	21.0	19.0					20																	36012573		2116	4217	6333	SO:0001583	missense	6714				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity	g.chr20:36012573G>A	AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.17G>A	20.37:g.36012573G>A	ENSP00000362680:p.Ser6Asn					SRC_uc002xgy.2_Missense_Mutation_p.S6N	p.S6N	NM_005417	NP_005408	P12931	SRC_HUMAN			4	466	+		Myeloproliferative disorder(115;0.00878)	6					E1P5V4|Q76P87|Q86VB9|Q9H5A8	Missense_Mutation	SNP	ENST00000373578.2	37	c.17G>A	CCDS13294.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727172	0.89390	.	.	ENSG00000197122	ENST00000445403;ENST00000373578;ENST00000360723;ENST00000358208;ENST00000373567;ENST00000373558	T;T;T;T;T;T	0.75704	-0.88;-0.88;-0.96;-0.88;-0.88;-0.96	4.14	4.14	0.48551	.	0.043216	0.85682	D	0.000000	T	0.80549	0.4644	L	0.50333	1.59	0.58432	D	0.999999	D	0.60160	0.987	D	0.63381	0.914	T	0.82390	-0.0481	10	0.62326	D	0.03	.	13.9441	0.64073	0.0:0.0:1.0:0.0	.	6	P12931	SRC_HUMAN	N	6	ENSP00000408503:S6N;ENSP00000362680:S6N;ENSP00000353950:S6N;ENSP00000350941:S6N;ENSP00000362668:S6N;ENSP00000362659:S6N	ENSP00000350941:S6N	S	+	2	0	SRC	35445987	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	8.692000	0.91284	2.139000	0.66308	0.561000	0.74099	AGC		0.701	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1		NM_005417		10	10	0	0	0	0.016723	0	10	10		
LPIN3	64900	broad.mit.edu	37	20	39986944	39986944	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr20:39986944C>T	ENST00000373257.3	+	18	2351	c.2260C>T	c.(2260-2262)Ctg>Ttg	p.L754L	LPIN3_ENST00000491528.1_3'UTR	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	754	C-LIP.				fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.L754L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GCAGCTGTTTCTGCCCCACGG	0.602																																						uc002xjx.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|central_nervous_system(1)	4						c.(2260-2262)CTG>TTG		lipin 3							106.0	93.0	98.0					20																	39986944		2203	4300	6503	SO:0001819	synonymous_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39986944C>T	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.2260C>T	20.37:g.39986944C>T						LPIN3_uc010ggh.2_Silent_p.L755L|LPIN3_uc010zwf.1_RNA	p.L754L	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN			18	2351	+		Myeloproliferative disorder(115;0.000739)	754			C-LIP.		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Silent	SNP	ENST00000373257.3	37	c.2260C>T	CCDS33469.1																																																																																				0.602	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1		NM_022896		37	49	0	0	0	0.007835	0	37	49		
ZNF335	63925	broad.mit.edu	37	20	44579219	44579219	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr20:44579219G>C	ENST00000322927.2	-	21	3305	c.3205C>G	c.(3205-3207)Cac>Gac	p.H1069D	ZNF335_ENST00000426788.1_Missense_Mutation_p.H914D	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1069					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)	p.H1069D(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				AGGCTTGAGTGCTGTGCCATG	0.597																																						uc002xqw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|ovary(1)	4						c.(3205-3207)CAC>GAC		zinc finger protein 335							125.0	135.0	132.0					20																	44579219		2203	4300	6503	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44579219G>C	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.3205C>G	20.37:g.44579219G>C	ENSP00000325326:p.His1069Asp					ZNF335_uc002xqv.2_Missense_Mutation_p.H181D|ZNF335_uc010zxk.1_Missense_Mutation_p.H914D	p.H1069D	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN			21	3328	-		Myeloproliferative disorder(115;0.0122)	1069			C2H2-type 11.		B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.3205C>G	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817018	0.70912	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	D;D	0.88975	-2.45;-2.45	4.82	4.82	0.62117	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96769	0.8945	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.98096	1.0412	10	0.87932	D	0	-30.0634	17.4376	0.87557	0.0:0.0:1.0:0.0	.	914;1069	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	D	1069;846;914	ENSP00000325326:H1069D;ENSP00000397098:H914D	ENSP00000243961:H846D	H	-	1	0	ZNF335	44012626	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	9.156000	0.94705	2.681000	0.91329	0.563000	0.77884	CAC		0.597	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1		NM_022095		30	219	0	0	0	0.00632	0	30	219		
TCFL5	10732	broad.mit.edu	37	20	61490866	61490866	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr20:61490866A>C	ENST00000335351.3	-	3	936	c.844T>G	c.(844-846)Tca>Gca	p.S282A	TCFL5_ENST00000217162.5_Missense_Mutation_p.S234A	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	282					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S282A(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					ACAGAACATGAGTTACTAGAA	0.368																																						uc002ydp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)	1						c.(844-846)TCA>GCA		transcription factor-like 5 protein							64.0	65.0	65.0					20																	61490866		2203	4300	6503	SO:0001583	missense	10732				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:61490866A>C	AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"""Basic helix-loop-helix proteins"""	11646	protein-coding gene	gene with protein product	"""HPV-16 E2 binding protein 1"""	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.844T>G	20.37:g.61490866A>C	ENSP00000334294:p.Ser282Ala					TCFL5_uc002ydo.2_Missense_Mutation_p.S55A|TCFL5_uc002ydq.2_Missense_Mutation_p.S282A	p.S282A	NM_006602	NP_006593	Q9UL49	TCFL5_HUMAN			3	937	-	Breast(26;5.68e-08)		282					O94771|Q9BYW0	Missense_Mutation	SNP	ENST00000335351.3	37	c.844T>G	CCDS13506.1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.959014	0.34565	.	.	ENSG00000101190	ENST00000335351;ENST00000217162	T;T	0.36340	1.29;1.26	4.93	2.6	0.31112	.	0.146314	0.31760	N	0.007108	T	0.23492	0.0568	L	0.34521	1.04	0.32016	N	0.601431	B;B	0.31318	0.319;0.214	B;B	0.26416	0.069;0.031	T	0.18587	-1.0332	10	0.51188	T	0.08	-14.1625	7.6079	0.28113	0.784:0.1417:0.0743:0.0	.	234;282	F8W9A4;Q9UL49	.;TCFL5_HUMAN	A	282;234	ENSP00000334294:S282A;ENSP00000217162:S234A	ENSP00000217162:S234A	S	-	1	0	TCFL5	60961311	1.000000	0.71417	0.413000	0.26509	0.758000	0.43043	2.760000	0.47581	0.296000	0.22592	0.533000	0.62120	TCA		0.368	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080079.2		NM_006602		17	99	0	0	0	0.004007	0	17	99		
OPRL1	4987	broad.mit.edu	37	20	62724217	62724217	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr20:62724217C>T	ENST00000349451.3	+	4	556	c.144C>T	c.(142-144)ctC>ctT	p.L48L	OPRL1_ENST00000336866.2_Silent_p.L48L|OPRL1_ENST00000355631.4_Silent_p.L48L	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	48					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)	p.L48L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TCCTGCCCCTCGGGCTCAAGG	0.652																																						uc002yic.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(142-144)CTC>CTT		opiate receptor-like 1							74.0	71.0	72.0					20																	62724217		2201	4292	6493	SO:0001819	synonymous_variant	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62724217C>T		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.144C>T	20.37:g.62724217C>T						OPRL1_uc002yid.2_Silent_p.L48L|OPRL1_uc002yif.3_Silent_p.L48L	p.L48L	NM_182647	NP_872588	P41146	OPRX_HUMAN			3	546	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		48			Extracellular (Potential).		Q8TD34|Q8WYH9|Q9H4K4	Silent	SNP	ENST00000349451.3	37	c.144C>T	CCDS13556.1																																																																																				0.652	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1		NM_182647		61	95	0	0	0	0.01441	0	61	95		
KRTAP21-1	337977	broad.mit.edu	37	21	32127524	32127524	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr21:32127524T>C	ENST00000335093.3	-	1	222	c.173A>G	c.(172-174)tAt>tGt	p.Y58C		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	58						intermediate filament (GO:0005882)		p.Y58C(2)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						GCCAGagccatatccacagcc	0.507																																						uc011adi.1		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	breast(1)	1						c.(172-174)TAT>TGT		keratin associated protein 21-1							133.0	122.0	125.0					21																	32127524		2202	4300	6502	SO:0001583	missense	337977					intermediate filament		g.chr21:32127524T>C	AP001709	CCDS13606.1	21q22.1	2006-03-13			ENSG00000187005	ENSG00000187005		"""Keratin associated proteins"""	18945	protein-coding gene	gene with protein product						12359730	Standard	NM_181619		Approved	KAP21.1	uc011adi.2	Q3LI58	OTTHUMG00000057777	ENST00000335093.3:c.173A>G	21.37:g.32127524T>C	ENSP00000335566:p.Tyr58Cys						p.Y58C	NM_181619	NP_853650	Q3LI58	KR211_HUMAN			1	173	-			58						Missense_Mutation	SNP	ENST00000335093.3	37	c.173A>G	CCDS13606.1	.	.	.	.	.	.	.	.	.	.	T	0.093	-1.164803	0.01673	.	.	ENSG00000187005	ENST00000335093	.	.	.	4.16	-1.52	0.08637	.	.	.	.	.	T	0.46073	0.1374	.	.	.	0.09310	N	1	D	0.59357	0.985	P	0.55999	0.789	T	0.37596	-0.9699	7	0.46703	T	0.11	.	6.5153	0.22244	0.1608:0.0:0.4958:0.3435	.	58	Q3LI58	KR211_HUMAN	C	58	.	ENSP00000335566:Y58C	Y	-	2	0	KRTAP21-1	31049395	0.000000	0.05858	0.003000	0.11579	0.018000	0.09664	-0.444000	0.06854	-0.238000	0.09724	-0.350000	0.07774	TAT		0.507	KRTAP21-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128229.2				5	147	0	0	0	0.014758	0	5	147		
KRTAP12-3	386683	broad.mit.edu	37	21	46078007	46078007	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr21:46078007C>T	ENST00000397907.1	+	1	159	c.111C>T	c.(109-111)ccC>ccT	p.P37P	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	37	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)		p.P37P(2)		central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGTGCATGCCCGTGAGCTGCA	0.652																																						uc002zft.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|prostate(1)	central_nervous_system(1)	1						c.(109-111)CCC>CCT		keratin associated protein 12-3							99.0	113.0	108.0					21																	46078007		2187	4273	6460	SO:0001819	synonymous_variant	386683					intermediate filament		g.chr21:46078007C>T	AB076361	CCDS42964.1	21q22.3	2006-03-13			ENSG00000205439	ENSG00000205439		"""Keratin associated proteins"""	20531	protein-coding gene	gene with protein product							Standard	NM_198697		Approved	KRTAP12.3	uc002zft.3	P60328	OTTHUMG00000057630	ENST00000397907.1:c.111C>T	21.37:g.46078007C>T						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.P37P	NM_198697	NP_941970	P60328	KR123_HUMAN			1	159	+			37			5.|14 X 5 AA approximate repeats.			Silent	SNP	ENST00000397907.1	37	c.111C>T	CCDS42964.1																																																																																				0.652	KRTAP12-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128033.1				16	220	0	0	0	0.00499	0	16	220		
FBXO7	25793	broad.mit.edu	37	22	32889255	32889255	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr22:32889255G>A	ENST00000266087.7	+	7	1458	c.1131G>A	c.(1129-1131)ctG>ctA	p.L377L	FBXO7_ENST00000382058.3_Silent_p.L298L|FBXO7_ENST00000397426.1_Silent_p.L263L	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	377					cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.L377L(2)|p.L298L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTTTATATCTGCGTGATTTTC	0.413																																						uc003amq.2		NaN																	3	Substitution - coding silent(3)		urinary_tract(3)	ovary(1)	1						c.(1129-1131)CTG>CTA		F-box only protein 7 isoform 1							144.0	128.0	134.0					22																	32889255		2203	4300	6503	SO:0001819	synonymous_variant	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32889255G>A	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.1131G>A	22.37:g.32889255G>A						FBXO7_uc003amr.2_Silent_p.L263L|FBXO7_uc003ams.2_Silent_p.L221L|FBXO7_uc003amt.2_Silent_p.L298L|FBXO7_uc003amu.2_Silent_p.L263L|FBXO7_uc003amv.2_Silent_p.L76L	p.L377L	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN			7	1414	+			377					B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Silent	SNP	ENST00000266087.7	37	c.1131G>A	CCDS13907.1																																																																																				0.413	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1				10	200	0	0	0	0.008291	0	10	200		
CNTN6	27255	broad.mit.edu	37	3	1363500	1363500	+	Missense_Mutation	SNP	G	G	T	rs149799168	byFrequency	TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:1363500G>T	ENST00000446702.2	+	8	1555	c.928G>T	c.(928-930)Ggt>Tgt	p.G310C	CNTN6_ENST00000350110.2_Missense_Mutation_p.G310C|CNTN6_ENST00000539053.1_Missense_Mutation_p.G238C			Q9UQ52	CNTN6_HUMAN	contactin 6	310					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.G310C(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CCTTGCAAAGGGTCAACTCAT	0.358																																						uc003boz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(928-930)GGT>TGT		contactin 6 precursor							85.0	91.0	89.0					3																	1363500		2203	4298	6501	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1363500G>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.928G>T	3.37:g.1363500G>T	ENSP00000407822:p.Gly310Cys					CNTN6_uc011asj.1_Missense_Mutation_p.G238C|CNTN6_uc003bpa.2_Missense_Mutation_p.G310C	p.G310C	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	8	1195	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	310					Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.928G>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503912	0.85176	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.78481	-1.18;-1.18;-1.18	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000007	D	0.83982	0.5372	L	0.41236	1.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81618	-0.0851	10	0.35671	T	0.21	.	18.4595	0.90734	0.0:0.0:1.0:0.0	.	310	Q9UQ52	CNTN6_HUMAN	C	310;238;310	ENSP00000407822:G310C;ENSP00000442791:G238C;ENSP00000341882:G310C	ENSP00000341882:G310C	G	+	1	0	CNTN6	1338500	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.978000	0.93450	2.788000	0.95919	0.650000	0.86243	GGT		0.358	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2		NM_014461		21	98	1	0	1.22574e-08	0.014323	1.35731e-08	21	98		
EFHB	151651	broad.mit.edu	37	3	19938244	19938244	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:19938244G>A	ENST00000295824.9	-	9	1821	c.1660C>T	c.(1660-1662)Cac>Tac	p.H554Y	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Missense_Mutation_p.H424Y	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	554							calcium ion binding (GO:0005509)	p.H552Y(1)|p.H554Y(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TTCTTCAGGTGATGCCGAACT	0.458																																						uc003cbl.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(1660-1662)CAC>TAC		EF hand domain family, member B							96.0	85.0	89.0					3																	19938244		2203	4300	6503	SO:0001583	missense	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19938244G>A	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.1660C>T	3.37:g.19938244G>A	ENSP00000295824:p.His554Tyr					EFHB_uc003cbm.2_Missense_Mutation_p.H424Y	p.H554Y	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN			9	1856	-			554					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	c.1660C>T	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	G	11.08	1.533016	0.27387	.	.	ENSG00000163576	ENST00000295824;ENST00000344838;ENST00000389256	T;T;T	0.26067	3.19;1.76;2.08	5.38	4.51	0.55191	SPARC/Testican, calcium-binding domain (1);	0.692720	0.14353	N	0.324940	T	0.41949	0.1181	M	0.67953	2.075	0.19300	N	0.999975	D;D	0.60575	0.969;0.988	P;P	0.58331	0.656;0.837	T	0.21759	-1.0236	9	.	.	.	-8.8293	9.1784	0.37127	0.0783:0.0:0.742:0.1797	.	424;554	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	Y	554;424;554	ENSP00000295824:H554Y;ENSP00000342263:H424Y;ENSP00000373908:H554Y	.	H	-	1	0	EFHB	19913248	0.970000	0.33590	0.027000	0.17364	0.001000	0.01503	1.607000	0.36836	1.403000	0.46800	0.655000	0.94253	CAC		0.458	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2		NM_144715		36	72	0	0	0	0.013726	0	36	72		
RAB5A	5868	broad.mit.edu	37	3	20019815	20019815	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:20019815A>C	ENST00000273047.4	+	5	988	c.452A>C	c.(451-453)tAt>tCt	p.Y151S	RAB5A_ENST00000422242.1_Missense_Mutation_p.Y137S	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	151					blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|nervous system development (GO:0007399)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)|regulation of endosome size (GO:0051036)|regulation of filopodium assembly (GO:0051489)|regulation of synaptic vesicle exocytosis (GO:2000300)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoplasmic side of early endosome membrane (GO:0098559)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|somatodendritic compartment (GO:0036477)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Y151S(1)		lung(1)|urinary_tract(1)	2						GCACAGTCCTATGCAGATGAC	0.308																																						uc003cbn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(451-453)TAT>TCT		RAB5A, member RAS oncogene family							117.0	125.0	122.0					3																	20019815		2203	4293	6496	SO:0001583	missense	5868				blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr3:20019815A>C		CCDS2633.1	3p24-p22	2008-07-18			ENSG00000144566	ENSG00000144566		"""RAB, member RAS oncogene"""	9783	protein-coding gene	gene with protein product	"""RAS-associated protein RAB5A"""	179512		RAB5		1999336	Standard	NM_004162		Approved		uc003cbn.3	P20339	OTTHUMG00000129889	ENST00000273047.4:c.452A>C	3.37:g.20019815A>C	ENSP00000273047:p.Tyr151Ser					RAB5A_uc010hey.2_RNA|RAB5A_uc011awg.1_Missense_Mutation_p.Y137S	p.Y151S	NM_004162	NP_004153	P20339	RAB5A_HUMAN			5	987	+			151					B4DJA5|Q6FI44	Missense_Mutation	SNP	ENST00000273047.4	37	c.452A>C	CCDS2633.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.490023	0.84962	.	.	ENSG00000144566	ENST00000273047;ENST00000422242	T;T	0.76709	-1.04;-1.04	5.32	5.32	0.75619	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88078	0.6340	M	0.81802	2.56	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.76071	0.987;0.971	D	0.88870	0.3332	9	.	.	.	-6.6053	15.5931	0.76554	1.0:0.0:0.0:0.0	.	137;151	B4DJA5;P20339	.;RAB5A_HUMAN	S	151;137	ENSP00000273047:Y151S;ENSP00000411941:Y137S	.	Y	+	2	0	RAB5A	19994819	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.183000	0.94887	2.150000	0.67090	0.533000	0.62120	TAT		0.308	RAB5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252137.2		NM_004162		58	102	0	0	0	0.01441	0	58	102		
QARS	5859	broad.mit.edu	37	3	49135633	49135633	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:49135633G>A	ENST00000306125.6	-	22	2480	c.2143C>T	c.(2143-2145)Ctg>Ttg	p.L715L	QARS_ENST00000470225.1_5'Flank|QARS_ENST00000414533.1_Silent_p.L704L			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	715					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)	p.L715L(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	ACCAGGTTCAGGTCACTTAAA	0.552																																						uc003cvx.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(2143-2145)CTG>TTG		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						78.0	80.0	79.0					3																	49135633		2203	4300	6503	SO:0001819	synonymous_variant	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49135633G>A	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.2143C>T	3.37:g.49135633G>A						QARS_uc011bcc.1_Silent_p.L168L|QARS_uc011bcd.1_Silent_p.L570L|QARS_uc003cvy.2_Silent_p.L570L|QARS_uc011bce.1_Silent_p.L704L	p.L715L	NM_005051	NP_005042	P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	22	2148	-			715					B4DWJ2	Silent	SNP	ENST00000306125.6	37	c.2143C>T	CCDS2788.1																																																																																				0.552	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2		NM_005051		15	130	0	0	0	0.004007	0	15	130		
APEH	327	broad.mit.edu	37	3	49721756	49721756	+	IGR	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:49721756C>T	ENST00000296456.5	+	0	3220				AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000449682.2_Silent_p.G669G	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.G655G(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCTCACAGGCCCCCACAGGGG	0.567																																						uc003cxg.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(1)	1						c.(2005-2007)GGG>GGA		macrophage stimulating 1 (hepatocyte growth							26.0	31.0	29.0					3																	49721756		2200	4294	6494	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49721756C>T	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49721756C>T							p.G669G	NM_020998	NP_066278	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	17	2079	-			655			Peptidase S1.		Q9BQ33|Q9P0Y2	Silent	SNP	ENST00000296456.5	37	c.2007G>A	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	C	8.137	0.784449	0.16189	.	.	ENSG00000173531	ENST00000448220	D	0.93019	-3.15	5.59	0.127	0.14727	.	0.000000	0.43110	D	0.000607	D	0.91560	0.7334	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.85517	0.1201	7	0.72032	D	0.01	.	2.0933	0.03662	0.2823:0.425:0.099:0.1937	.	.	.	.	S	139	ENSP00000394756:G139S	ENSP00000394756:G139S	G	-	1	0	MST1	49696760	0.008000	0.16893	0.947000	0.38551	0.977000	0.68977	-1.112000	0.03299	-0.349000	0.08274	0.655000	0.94253	GGC		0.567	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2				56	62	0	0	0	0.01441	0	56	62		
RNF123	63891	broad.mit.edu	37	3	49736242	49736242	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:49736242C>G	ENST00000327697.6	+	9	769	c.625C>G	c.(625-627)Ctg>Gtg	p.L209V	RNF123_ENST00000432042.1_Missense_Mutation_p.L63V	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	209	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.L209V(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TGATGGCACTCTGTCCTTCTG	0.632																																						uc003cxh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7						c.(625-627)CTG>GTG		ring finger protein 123							89.0	74.0	79.0					3																	49736242		2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49736242C>G	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.625C>G	3.37:g.49736242C>G	ENSP00000328287:p.Leu209Val					RNF123_uc010hky.1_5'Flank|RNF123_uc003cxi.2_5'Flank	p.L209V	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	9	711	+			209			B30.2/SPRY.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.625C>G	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.513721	0.44763	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.70164	-0.46;-0.46	5.04	4.03	0.46877	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.326113	0.26723	N	0.022831	T	0.38506	0.1043	N	0.02708	-0.52	0.80722	D	1	B	0.21225	0.053	B	0.28784	0.094	T	0.29912	-0.9996	10	0.32370	T	0.25	-12.7128	5.6067	0.17383	0.2759:0.623:0.0:0.1011	.	209	Q5XPI4	RN123_HUMAN	V	209;209;63	ENSP00000328287:L209V;ENSP00000392443:L63V	ENSP00000328287:L209V	L	+	1	2	RNF123	49711246	1.000000	0.71417	0.995000	0.50966	0.958000	0.62258	4.970000	0.63742	2.504000	0.84457	0.561000	0.74099	CTG		0.632	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2		NM_022064		34	44	0	0	0	0.012213	0	34	44		
GMPPB	29925	broad.mit.edu	37	3	49756064	49756064	+	3'UTR	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:49756064G>C	ENST00000480687.1	-	0	4320				RNF123_ENST00000433785.1_Intron|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.L279V|AMIGO3_ENST00000535833.1_Missense_Mutation_p.L279V			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)	p.L279V(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTAGGCCAAGAGCTGGGGCC	0.647																																						uc003cxj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(835-837)CTT>GTT		adhesion molecule with Ig-like domain 3																																				SO:0001624	3_prime_UTR_variant	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49756064G>C	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*3121C>G	3.37:g.49756064G>C						RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	p.L279V	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	1175	-			279			Extracellular (Potential).|Ig-like C2-type.		A8K6N5|Q9H7U3	Missense_Mutation	SNP	ENST00000480687.1	37	c.835C>G	CCDS2803.1	.	.	.	.	.	.	.	.	.	.	G	7.545	0.661488	0.14645	.	.	ENSG00000176020	ENST00000320431;ENST00000535833	T;T	0.57752	0.38;0.38	5.4	1.5	0.22942	Immunoglobulin-like (1);	2.150260	0.02093	N	0.053288	T	0.27933	0.0688	N	0.08118	0	0.09310	N	0.999998	B	0.15141	0.012	B	0.14578	0.011	T	0.17137	-1.0379	10	0.07813	T	0.8	0.802	1.6598	0.02789	0.1602:0.1399:0.4123:0.2876	.	279	Q86WK7	AMGO3_HUMAN	V	279	ENSP00000323096:L279V;ENSP00000439268:L279V	ENSP00000323096:L279V	L	-	1	0	AMIGO3	49731068	0.027000	0.19231	0.000000	0.03702	0.759000	0.43091	0.923000	0.28757	-0.006000	0.14370	0.462000	0.41574	CTT		0.647	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1		NM_013334		26	34	0	0	0	0.005443	0	26	34		
GNAT1	2779	broad.mit.edu	37	3	50231195	50231195	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:50231195C>T	ENST00000433068.1	+	5	515	c.459C>T	c.(457-459)tcC>tcT	p.S153S	GNAT1_ENST00000232461.3_Silent_p.S153S|GNAT1_ENST00000481246.1_3'UTR	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	153					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.S153S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCTACCTCTCCGACCTGGAGC	0.726																																						uc003cym.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(457-459)TCC>TCT		rod-type transducin alpha subunit							22.0	23.0	23.0					3																	50231195		2202	4300	6502	SO:0001819	synonymous_variant	2779				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity	g.chr3:50231195C>T		CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.459C>T	3.37:g.50231195C>T						GNAT1_uc003cyl.2_Silent_p.S153S	p.S153S	NM_144499	NP_653082	P11488	GNAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	5	575	+			153					Q4VBN2	Silent	SNP	ENST00000433068.1	37	c.459C>T	CCDS2812.1																																																																																				0.726	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345957.1		NM_000172		7	16	0	0	0	0.001984	0	7	16		
CACNA2D2	9254	broad.mit.edu	37	3	50402325	50402325	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:50402325G>T	ENST00000479441.1	-	38	3305	c.3306C>A	c.(3304-3306)aaC>aaA	p.N1102K	XXcos-LUCA11.4_ENST00000607088.1_RNA|XXcos-LUCA11.4_ENST00000607362.1_RNA|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.N1105K|XXcos-LUCA11.4_ENST00000607583.1_RNA|XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000606665.1_RNA|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.N1028K|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.N1096K|XXcos-LUCA11.4_ENST00000607121.1_RNA|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.N1095K|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.N1097K|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.N1098K|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.N1105K			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	1102					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.N1095K(1)		breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TCACTGTCGCGTTGTAGTCGA	0.667																																						uc003daq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)	1						c.(3304-3306)AAC>AAA		calcium channel, voltage-dependent, alpha	Gabapentin(DB00996)						47.0	49.0	49.0					3																	50402325		2203	4299	6502	SO:0001583	missense	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50402325G>T	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.3306C>A	3.37:g.50402325G>T	ENSP00000418081:p.Asn1102Lys					CACNA2D2_uc003dap.2_Missense_Mutation_p.N1095K|CACNA2D2_uc003dao.2_Missense_Mutation_p.N175K	p.N1102K	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	38	3344	-			1102			Extracellular (Potential).		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	ENST00000479441.1	37	c.3306C>A	CCDS54588.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878149	0.72294	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59	4.28	1.88	0.25563	.	0.234046	0.40728	N	0.001040	T	0.57417	0.2052	L	0.54323	1.7	0.40686	D	0.982358	P;D;P	0.56035	0.662;0.974;0.956	B;P;P	0.56823	0.341;0.807;0.646	T	0.58370	-0.7648	10	0.72032	D	0.01	-10.6281	8.1078	0.30896	0.4062:0.0:0.5938:0.0	.	1102;1095;1105	Q9NY47;Q9NY47-2;C9JGM2	CA2D2_HUMAN;.;.	K	1105;1096;1097;1028;1105;1098;1095;1102	ENSP00000407393:N1105K;ENSP00000404631:N1096K;ENSP00000266039:N1097K;ENSP00000354228:N1028K;ENSP00000390526:N1105K;ENSP00000378519:N1098K;ENSP00000390329:N1095K;ENSP00000418081:N1102K	ENSP00000266039:N1097K	N	-	3	2	CACNA2D2	50377329	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.122000	0.31295	0.454000	0.26884	0.407000	0.27541	AAC		0.667	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1		NM_006030		19	25	1	0	1.28384e-07	0.012319	1.39023e-07	19	25		
PLSCR4	57088	broad.mit.edu	37	3	145917695	145917695	+	Missense_Mutation	SNP	G	G	A	rs34036393		TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:145917695G>A	ENST00000354952.2	-	6	769	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000493382.1_Missense_Mutation_p.R177W|PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000446574.2_Missense_Mutation_p.R177W	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	177					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)	p.R177W(1)		kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TCAGTGACCCGGAGGACGAAG	0.483																																						uc010huy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(529-531)CGG>TGG		phospholipid scramblase 4 isoform a							100.0	95.0	97.0					3																	145917695		2203	4300	6503	SO:0001583	missense	57088				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:145917695G>A	AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.529C>T	3.37:g.145917695G>A	ENSP00000347038:p.Arg177Trp					PLSCR4_uc010huz.2_Missense_Mutation_p.R177W|PLSCR4_uc003evt.3_Missense_Mutation_p.R177W|PLSCR4_uc010hva.2_Intron|PLSCR4_uc003evu.3_Intron	p.R177W	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN			6	858	-			177			Cytoplasmic (By similarity).		A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	ENST00000354952.2	37	c.529C>T	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717092	0.48622	.	.	ENSG00000114698	ENST00000354952;ENST00000446574;ENST00000493382;ENST00000460350;ENST00000476202	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	4.87	3.98	0.46160	.	0.118262	0.38272	N	0.001751	T	0.50650	0.1628	M	0.80616	2.505	0.38007	D	0.934406	D	0.89917	1.0	D	0.91635	0.999	T	0.60895	-0.7172	10	0.87932	D	0	.	11.1046	0.48194	0.0:0.0:0.5465:0.4535	rs34036393	177	Q9NRQ2	PLS4_HUMAN	W	177	ENSP00000347038:R177W;ENSP00000399315:R177W;ENSP00000419040:R177W;ENSP00000417896:R177W;ENSP00000418173:R177W	ENSP00000347038:R177W	R	-	1	2	PLSCR4	147400385	0.014000	0.17966	0.996000	0.52242	0.443000	0.32047	0.343000	0.19944	1.381000	0.46364	0.655000	0.94253	CGG		0.483	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1		NM_020353		6	71	0	0	0	0.001168	0	6	71		
ECE2	9718	broad.mit.edu	37	3	184009213	184009213	+	Missense_Mutation	SNP	G	G	A	rs541647645		TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:184009213G>A	ENST00000402825.3	+	18	2461	c.2461G>A	c.(2461-2463)Gtg>Atg	p.V821M	ECE2_ENST00000359140.4_Missense_Mutation_p.V674M|ECE2_ENST00000357474.5_Missense_Mutation_p.V749M|ECE2_ENST00000404464.3_Missense_Mutation_p.V703M|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	821	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)	p.V749M(1)|p.V821M(1)|p.V674M(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTCTTCTTCGTGGGATTTGC	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16664	0.0		0.0	False		,,,				2504	0.0					uc003fni.3		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	ovary(2)|skin(2)	4						c.(2461-2463)GTG>ATG		endothelin converting enzyme 2 isoform A							88.0	86.0	87.0					3																	184009213		2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184009213G>A	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.2461G>A	3.37:g.184009213G>A	ENSP00000384223:p.Val821Met					ECE2_uc011brh.1_3'UTR|ECE2_uc003fnl.3_Missense_Mutation_p.V749M|ECE2_uc003fnm.3_Missense_Mutation_p.V703M|ECE2_uc003fnk.3_Missense_Mutation_p.V674M|ECE2_uc011bri.1_Missense_Mutation_p.V736M	p.V821M	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		18	2499	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		821			Lumenal (Potential).|Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.2461G>A	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373537	0.82573	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	5.19	5.19	0.71726	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.070273	0.56097	D	0.000035	D	0.88321	0.6405	L	0.53729	1.69	0.80722	D	1	D;D;D;D;D	0.76494	0.993;0.967;0.997;0.995;0.999	D;P;D;P;D	0.68039	0.91;0.477;0.925;0.855;0.955	D	0.87978	0.2741	10	0.45353	T	0.12	-23.1633	16.243	0.82426	0.0:0.0:1.0:0.0	.	423;703;749;674;821	B4DHU4;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;ECE2_HUMAN	M	821;674;703;749;695	ENSP00000384223:V821M;ENSP00000352052:V674M;ENSP00000385846:V703M;ENSP00000350066:V749M;ENSP00000398444:V695M	ENSP00000350066:V749M	V	+	1	0	ECE2	185491907	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.311000	0.51919	2.421000	0.82119	0.561000	0.74099	GTG		0.587	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3		NM_014693		21	85	0	0	0	0.01892	0	21	85		
MUC4	4585	broad.mit.edu	37	3	195477929	195477929	+	Silent	SNP	C	C	T	rs552126852		TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:195477929C>T	ENST00000346145.4	-	22	3033	c.2994G>A	c.(2992-2994)tcG>tcA	p.S998S	MUC4_ENST00000463781.3_Silent_p.S5234S|MUC4_ENST00000349607.4_Silent_p.S947S|MUC4_ENST00000475231.1_Silent_p.S5182S	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1991	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S5234S(1)|p.S998S(1)|p.S5106S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACTGGAACTCCGAGATGACCA	0.652													.|||	1	0.000199681	0.0	0.0	5008	,	,		10547	0.0		0.0	False		,,,				2504	0.001					uc011bto.1		NaN																	3	Substitution - coding silent(3)		urinary_tract(3)		0						c.(15316-15318)TCG>TCA		mucin 4 isoform a							36.0	39.0	38.0					3																	195477929		2203	4300	6503	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195477929C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2994G>A	3.37:g.195477929C>T						MUC4_uc010hzq.2_Silent_p.S91S|MUC4_uc003fuz.2_Silent_p.S832S|MUC4_uc003fva.2_Silent_p.S714S|MUC4_uc003fvb.2_Silent_p.S750S|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Silent_p.S750S|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Silent_p.S714S|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.S798S|MUC4_uc011bti.1_Silent_p.S798S|MUC4_uc011btj.1_Silent_p.S975S|MUC4_uc011btk.1_Silent_p.S714S|MUC4_uc011btl.1_Silent_p.S743S|MUC4_uc011btm.1_Silent_p.S923S|MUC4_uc011btn.1_Silent_p.S714S|MUC4_uc003fvo.2_Silent_p.S998S|MUC4_uc003fvp.2_Silent_p.S947S	p.S5106S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	24	15778	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1991					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000346145.4	37	c.15318G>A	CCDS3310.1																																																																																				0.652	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1		NM_018406		11	91	0	0	0	0.010729	0	11	91		
POLN	353497	broad.mit.edu	37	4	2130948	2130948	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:2130948C>A	ENST00000511885.2	-	18	2178	c.1825G>T	c.(1825-1827)Gcc>Tcc	p.A609S	POLN_ENST00000382865.1_Missense_Mutation_p.A609S			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	609					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.A609S(1)		kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			ACAAACATGGCCCTCGGGGAG	0.403								DNA polymerases (catalytic subunits)																														uc003ger.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(2)|ovary(1)|skin(1)	4						c.(1825-1827)GCC>TCC	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase nu							142.0	127.0	132.0					4																	2130948		2203	4300	6503	SO:0001583	missense	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2130948C>A	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1825G>T	4.37:g.2130948C>A	ENSP00000435506:p.Ala609Ser					POLN_uc010icg.1_Missense_Mutation_p.A57S|POLN_uc010ich.1_Missense_Mutation_p.A141S	p.A609S	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		16	1825	-			609					A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	c.1825G>T	CCDS3360.1	.	.	.	.	.	.	.	.	.	.	C	9.829	1.187880	0.21954	.	.	ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857	T;T	0.21361	2.01;2.01	4.67	-4.39	0.03611	DNA-directed DNA polymerase, family A, palm domain (2);	0.626224	0.15336	N	0.267722	T	0.06826	0.0174	N	0.04387	-0.21	0.09310	N	1	B;B;B	0.25521	0.075;0.128;0.004	B;B;B	0.24848	0.044;0.056;0.014	T	0.21930	-1.0231	10	0.40728	T	0.16	0.1229	4.5615	0.12163	0.2815:0.1389:0.0:0.5796	.	140;300;609	C9JDP8;E9PE06;Q7Z5Q5	.;.;DPOLN_HUMAN	S	609;609;300;140	ENSP00000435506:A609S;ENSP00000372316:A609S	ENSP00000253313:A300S	A	-	1	0	POLN	2100746	0.003000	0.15002	0.001000	0.08648	0.771000	0.43674	-0.868000	0.04236	-0.585000	0.05905	-0.145000	0.13849	GCC		0.403	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2		NM_181808		37	61	1	0	2.24893e-16	0.009718	2.5188e-16	37	61		
HGFAC	3083	broad.mit.edu	37	4	3451002	3451002	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:3451002C>T	ENST00000382774.3	+	14	1939	c.1824C>T	c.(1822-1824)ggC>ggT	p.G608G	HGFAC_ENST00000511533.1_Silent_p.G615G	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	608	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.G608G(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AGAAGAACGGCGTGGCTTACC	0.677																																						uc003ghc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(2)	2						c.(1822-1824)GGC>GGT		HGF activator preproprotein							52.0	64.0	60.0					4																	3451002		2203	4298	6501	SO:0001819	synonymous_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3451002C>T	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1824C>T	4.37:g.3451002C>T						HGFAC_uc010icw.2_Silent_p.G615G	p.G608G	NM_001528	NP_001519	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	14	1827	+			608			Peptidase S1.		Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	37	c.1824C>T	CCDS3369.1																																																																																				0.677	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3				32	70	0	0	0	0.015359	0	32	70		
CNGA1	1259	broad.mit.edu	37	4	47939675	47939675	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:47939675G>A	ENST00000514170.1	-	11	1155	c.836C>T	c.(835-837)tCt>tTt	p.S279F	CNGA1_ENST00000544810.1_Missense_Mutation_p.S279F|CNGA1_ENST00000420489.2_Missense_Mutation_p.S279F|CNGA1_ENST00000402813.3_Missense_Mutation_p.S348F|CNGA1_ENST00000358519.4_Missense_Mutation_p.S279F			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	279					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.S279F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						AAACATACGAGAGAACCGTAA	0.358																																						uc003gxt.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(835-837)TCT>TTT		cyclic nucleotide gated channel alpha 1 isoform							147.0	141.0	143.0					4																	47939675		1851	4090	5941	SO:0001583	missense	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47939675G>A	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.836C>T	4.37:g.47939675G>A	ENSP00000426862:p.Ser279Phe					uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.S348F	p.S279F	NM_000087	NP_000078	P29973	CNGA1_HUMAN			11	1102	-			279			Extracellular (Potential).		A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	c.836C>T	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.970791	0.34754	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.97906	-4.6;-4.6;-4.6;-4.6;-4.6	5.09	5.09	0.68999	Ion transport (1);	0.172251	0.50627	D	0.000103	D	0.95191	0.8441	L	0.45285	1.41	0.33858	D	0.63341	B;B	0.30727	0.292;0.292	B;B	0.29440	0.102;0.102	D	0.95098	0.8228	10	0.10111	T	0.7	.	18.5276	0.90978	0.0:0.0:1.0:0.0	.	279;279	Q4W5E3;P29973	.;CNGA1_HUMAN	F	348;279;279;279;279	ENSP00000384264:S348F;ENSP00000426862:S279F;ENSP00000443401:S279F;ENSP00000351320:S279F;ENSP00000389881:S279F	ENSP00000351320:S279F	S	-	2	0	CNGA1	47634432	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	5.713000	0.68415	2.372000	0.80975	0.655000	0.94253	TCT		0.358	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2		NM_000087		37	78	0	0	0	0.015359	0	37	78		
EPHA5	2044	broad.mit.edu	37	4	66201800	66201800	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:66201800A>T	ENST00000273854.3	-	16	3302	c.2702T>A	c.(2701-2703)aTg>aAg	p.M901K	EPHA5_ENST00000354839.4_Missense_Mutation_p.M879K|EPHA5_ENST00000511294.1_Missense_Mutation_p.M902K|EPHA5_ENST00000432638.2_Missense_Mutation_p.M738K	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	901	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.M901K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AGGACAATCCATGGGGCTTGG	0.448										TSP Lung(17;0.13)																												uc003hcy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(2701-2703)ATG>AAG		ephrin receptor EphA5 isoform a precursor							106.0	90.0	96.0					4																	66201800		2203	4299	6502	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66201800A>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2702T>A	4.37:g.66201800A>T	ENSP00000273854:p.Met901Lys	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.M833K|EPHA5_uc003hcz.2_Missense_Mutation_p.M879K|EPHA5_uc011cah.1_Missense_Mutation_p.M902K|EPHA5_uc011cai.1_Missense_Mutation_p.M880K|EPHA5_uc003hda.2_Missense_Mutation_p.M902K	p.M901K	NM_004439	NP_004430	P54756	EPHA5_HUMAN			16	2895	-			901			Cytoplasmic (Potential).|Protein kinase.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.2702T>A	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.004703	0.93287	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	5.93	5.93	0.95920	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.78547	0.4300	N	0.02876	-0.465	0.80722	D	1	P;D;P;D	0.65815	0.929;0.995;0.913;0.977	D;D;D;D	0.85130	0.979;0.997;0.964;0.972	D	0.85529	0.1208	10	0.87932	D	0	.	16.3943	0.83563	1.0:0.0:0.0:0.0	.	880;902;879;901	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	K	901;738;879;902	ENSP00000273854:M901K;ENSP00000389208:M738K;ENSP00000346899:M879K;ENSP00000427638:M902K	ENSP00000273854:M901K	M	-	2	0	EPHA5	65884395	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.339000	0.96797	2.281000	0.76405	0.533000	0.62120	ATG		0.448	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2		NM_004439		4	66	0	0	0	0.009096	0	4	66		
USO1	8615	broad.mit.edu	37	4	76692248	76692248	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:76692248G>C	ENST00000538159.1	+	7	519	c.519G>C	c.(517-519)ttG>ttC	p.L173F	USO1_ENST00000514213.2_Missense_Mutation_p.L156F			O60763	USO1_HUMAN	USO1 vesicle transport factor	171	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.L99F(1)|p.L173F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTTCAAGATTGATGGACTTAC	0.308																																						uc003hiu.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|central_nervous_system(1)	3						c.(511-513)TTG>TTC		USO1 homolog, vesicle docking protein							122.0	105.0	110.0					4																	76692248		1821	4093	5914	SO:0001583	missense	8615				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	g.chr4:76692248G>C	AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.519G>C	4.37:g.76692248G>C	ENSP00000440586:p.Leu173Phe					USO1_uc003hiv.2_Missense_Mutation_p.L6F|USO1_uc003hiw.2_Missense_Mutation_p.L6F	p.L171F	NM_003715	NP_003706	O60763	USO1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		6	688	+			171			Globular head.|ARM 3.		B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	37	c.513G>C		.	.	.	.	.	.	.	.	.	.	G	17.12	3.307105	0.60305	.	.	ENSG00000138768	ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	T;T	0.62941	-0.01;-0.01	5.44	0.594	0.17485	Armadillo-type fold (2);	0.157403	0.43919	D	0.000504	T	0.76399	0.3982	M	0.86343	2.81	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.73395	-0.3996	10	0.87932	D	0	.	6.0839	0.19956	0.3606:0.1189:0.5205:0.0	.	173;171	F5GYR8;O60763	.;USO1_HUMAN	F	6;173;156;99	ENSP00000440586:L173F;ENSP00000444850:L156F	ENSP00000264904:L99F	L	+	3	2	USO1	76911272	0.984000	0.35163	0.986000	0.45419	0.998000	0.95712	0.111000	0.15458	0.011000	0.14865	0.655000	0.94253	TTG		0.308	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_003715		11	34	0	0	0	0.013537	0	11	34		
BMP2K	55589	broad.mit.edu	37	4	79763561	79763561	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:79763561G>T	ENST00000335016.5	+	4	592	c.426G>T	c.(424-426)atG>atT	p.M142I	BMP2K_ENST00000502871.1_Missense_Mutation_p.M142I	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	142	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.M142I(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TGAATCAAATGAATAAGAAGC	0.343																																						uc003hlk.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	lung(1)	1						c.(424-426)ATG>ATT		BMP-2 inducible kinase isoform a							96.0	99.0	98.0					4																	79763561		2203	4299	6502	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79763561G>T	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.426G>T	4.37:g.79763561G>T	ENSP00000334836:p.Met142Ile					BMP2K_uc010ijl.1_RNA|BMP2K_uc003hlj.2_Missense_Mutation_p.M142I	p.M142I	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN			4	592	+			142			Protein kinase.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.426G>T	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693593	0.88735	.	.	ENSG00000138756	ENST00000502871;ENST00000335016;ENST00000264889	T;T	0.60040	0.22;0.22	5.5	4.63	0.57726	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.58481	0.2125	N	0.10972	0.075	0.80722	D	1	D;P	0.54772	0.968;0.944	D;P	0.68765	0.96;0.895	T	0.66818	-0.5827	9	0.87932	D	0	.	15.3623	0.74487	0.0:0.0:0.86:0.14	.	142;142	Q9NSY1;Q4W5H2	BMP2K_HUMAN;.	I	142	ENSP00000421768:M142I;ENSP00000334836:M142I	ENSP00000264889:M142I	M	+	3	0	BMP2K	79982585	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.935000	0.87658	2.578000	0.87016	0.650000	0.86243	ATG		0.343	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_017593		7	45	1	0	0.000157383	0.00308	0.000167647	7	45		
ANK2	287	broad.mit.edu	37	4	114251495	114251495	+	Silent	SNP	T	T	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:114251495T>C	ENST00000357077.4	+	27	3047	c.2994T>C	c.(2992-2994)tgT>tgC	p.C998C	ANK2_ENST00000394537.3_Silent_p.C998C|ANK2_ENST00000509550.1_Silent_p.C207C|ANK2_ENST00000264366.6_Silent_p.C998C|ANK2_ENST00000506722.1_Silent_p.C989C	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	998	Interaction with SPTBN1.|ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.C998C(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTCGGAAATGTACTGCTCCAA	0.537																																						uc003ibe.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(2992-2994)TGT>TGC		ankyrin 2 isoform 1							82.0	72.0	75.0					4																	114251495		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114251495T>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2994T>C	4.37:g.114251495T>C						ANK2_uc003ibd.3_Silent_p.C989C|ANK2_uc003ibf.3_Silent_p.C998C|ANK2_uc011cgc.1_Silent_p.C207C|ANK2_uc003ibg.3_Silent_p.C26C|ANK2_uc003ibc.2_Silent_p.C974C|ANK2_uc011cgb.1_Silent_p.C1013C	p.C998C	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	27	3094	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	998			ZU5.|Interaction with SPTBN1.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.2994T>C	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	T	7.409	0.634308	0.14322	.	.	ENSG00000145362	ENST00000514960	.	.	.	5.83	-6.62	0.01813	.	.	.	.	.	T	0.72898	0.3518	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73493	-0.3965	4	.	.	.	.	21.3817	0.99952	0.0:0.8343:0.0:0.1657	.	.	.	.	H	44	.	.	Y	+	1	0	ANK2	114470944	0.920000	0.31207	0.293000	0.24932	0.634000	0.38068	0.075000	0.14686	-1.502000	0.01814	-1.098000	0.02139	TAC		0.537	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2		NM_001148		5	60	0	0	0	0.014758	0	5	60		
DCHS2	54798	broad.mit.edu	37	4	155160322	155160322	+	Splice_Site	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:155160322C>T	ENST00000357232.4	-	24	6126	c.6127G>A	c.(6127-6129)Ggc>Agc	p.G2043S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2043	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G2043S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AATAACTCACCATTCTTAGGA	0.368																																						uc003inw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|pancreas(1)	4						c.(6127-6129)GGC>AGC		dachsous 2 isoform 1							45.0	47.0	47.0					4																	155160322		2203	4300	6503	SO:0001630	splice_region_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155160322C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6127+1G>A	4.37:g.155160322C>T							p.G2043S	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	24	6127	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2043			Cadherin 18.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.6127G>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325346	0.81580	.	.	ENSG00000197410	ENST00000357232	D	0.91407	-2.84	5.92	5.92	0.95590	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000001	D	0.97324	0.9125	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98235	1.0485	9	.	.	.	.	18.489	0.90839	0.0:1.0:0.0:0.0	.	2043	Q6V1P9	PCD23_HUMAN	S	2043	ENSP00000349768:G2043S	.	G	-	1	0	DCHS2	155379772	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	5.870000	0.69620	2.797000	0.96272	0.555000	0.69702	GGC		0.368	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2		NM_001142552	Missense_Mutation	6	45	0	0	0	0.004482	0	6	45		
GUCY1A3	2982	broad.mit.edu	37	4	156634276	156634276	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:156634276C>G	ENST00000296518.7	+	7	1322	c.1113C>G	c.(1111-1113)atC>atG	p.I371M	GUCY1A3_ENST00000393832.3_Missense_Mutation_p.I113M|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.I371M|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.I371M|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.I371M|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.I371M|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.I371M			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	371					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.I371M(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GCCAAATGATCTACATTGTTG	0.423																																						uc003iov.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1111-1113)ATC>ATG		guanylate cyclase 1, soluble, alpha 3 isoform A							74.0	71.0	72.0					4																	156634276		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156634276C>G		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1113C>G	4.37:g.156634276C>G	ENSP00000296518:p.Ile371Met					GUCY1A3_uc010iqc.2_Missense_Mutation_p.I371M|GUCY1A3_uc003iow.2_Missense_Mutation_p.I371M|GUCY1A3_uc010iqd.2_Missense_Mutation_p.I370M|GUCY1A3_uc003iox.2_Missense_Mutation_p.I371M|GUCY1A3_uc003ioz.2_Missense_Mutation_p.I136M|GUCY1A3_uc003ioy.2_Missense_Mutation_p.I371M|GUCY1A3_uc010iqe.2_Missense_Mutation_p.I136M|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.I371M	p.I371M	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	8	1649	+	all_hematologic(180;0.24)	Renal(120;0.0854)	371					D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.1113C>G	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.139073	0.56936	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38	6.03	4.3	0.51218	Haem NO binding associated (1);	0.182663	0.38381	N	0.001717	D	0.91882	0.7430	L	0.54908	1.71	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.89802	0.3976	10	0.33940	T	0.23	.	11.9418	0.52905	0.0:0.812:0.1227:0.0653	.	371;371	B3KU69;Q02108	.;GCYA3_HUMAN	M	371;371;371;371;113;371;371	ENSP00000424361:I371M;ENSP00000421493:I371M;ENSP00000426968:I371M;ENSP00000412201:I371M;ENSP00000377418:I113M;ENSP00000296518:I371M;ENSP00000426040:I371M	ENSP00000296518:I371M	I	+	3	3	GUCY1A3	156853726	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.300000	0.43620	0.871000	0.35750	-0.175000	0.13238	ATC		0.423	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2				28	68	0	0	0	0.00632	0	28	68		
MARCH1	55016	broad.mit.edu	37	4	164534483	164534483	+	Silent	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:164534483G>T	ENST00000503008.1	-	5	1201	c.225C>A	c.(223-225)tcC>tcA	p.S75S	MARCH1_ENST00000339875.5_Silent_p.S58S|MARCH1_ENST00000274056.7_Silent_p.S75S|MARCH1_ENST00000514618.1_Silent_p.S75S	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	75					antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S58S(1)|p.S75S(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGTCCTGAGTGGATGGACAGA	0.418																																						uc003iqs.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	lung(2)	2						c.(223-225)TCC>TCA		membrane-associated RING-CH protein I							115.0	112.0	113.0					4																	164534483		2203	4300	6503	SO:0001819	synonymous_variant	55016				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:164534483G>T	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.225C>A	4.37:g.164534483G>T						MARCH1_uc003iqr.1_Silent_p.S58S	p.S75S	NM_017923	NP_060393	Q8TCQ1	MARH1_HUMAN			5	1202	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	75			RING-CH-type.		D3DP29|Q9NWR0	Silent	SNP	ENST00000503008.1	37	c.225C>A	CCDS54814.1																																																																																				0.418	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2		NM_017923		24	91	1	0	4.47668e-21	0.021523	5.07184e-21	24	91		
FBXO8	26269	broad.mit.edu	37	4	175158643	175158643	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:175158643G>A	ENST00000393674.2	-	6	1742	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C	FBXO8_ENST00000503293.1_Missense_Mutation_p.R253C	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	294					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell junction (GO:0030054)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.R294C(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		TGAGCAGCGCGACGGGTATTT	0.383																																						uc003itp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)	2						c.(880-882)CGC>TGC		F-box only protein 8							95.0	96.0	96.0					4																	175158643		2203	4300	6503	SO:0001583	missense	26269				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity	g.chr4:175158643G>A	AF174596	CCDS3820.1	4q34.1	2008-02-05	2004-06-15			ENSG00000164117		"""F-boxes /  ""other"""""	13587	protein-coding gene	gene with protein product		605649	"""F-box only protein 8"""			10531035, 10531037	Standard	NM_012180		Approved	FBX8, FBS	uc003itp.3	Q9NRD0		ENST00000393674.2:c.880C>T	4.37:g.175158643G>A	ENSP00000377280:p.Arg294Cys					FBXO8_uc003itq.2_Missense_Mutation_p.R253C	p.R294C	NM_012180	NP_036312	Q9NRD0	FBX8_HUMAN		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)	6	1730	-		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)	294					B2RB40|D3DP41|G5E9Z0|Q6UWN4|Q8IWE1|Q9NRP5|Q9UKC4	Missense_Mutation	SNP	ENST00000393674.2	37	c.880C>T	CCDS3820.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100463	0.76983	.	.	ENSG00000164117	ENST00000393674;ENST00000503293;ENST00000296517	T;T	0.55234	0.53;0.53	5.52	5.52	0.82312	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.71341	0.3328	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70935	0.951;0.971	T	0.73427	-0.3986	10	0.87932	D	0	.	19.442	0.94824	0.0:0.0:1.0:0.0	.	253;294	G5E9Z0;Q9NRD0	.;FBX8_HUMAN	C	294;253;207	ENSP00000377280:R294C;ENSP00000422905:R253C	ENSP00000296517:R207C	R	-	1	0	FBXO8	175395218	1.000000	0.71417	0.926000	0.36857	0.998000	0.95712	5.773000	0.68898	2.593000	0.87608	0.655000	0.94253	CGC		0.383	FBXO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362085.2		NM_012180		19	54	0	0	0	0.006122	0	19	54		
HELT	391723	broad.mit.edu	37	4	185941788	185941788	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:185941788G>A	ENST00000515777.1	+	4	679	c.591G>A	c.(589-591)ccG>ccA	p.P197P	HELT_ENST00000505610.1_Silent_p.P196P|HELT_ENST00000338875.4_Silent_p.P282P			A6NFD8	HELT_HUMAN	helt bHLH transcription factor	197	Pro-rich.				central nervous system development (GO:0007417)|GABAergic neuron differentiation in basal ganglia (GO:0021858)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P282P(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CGCCAGTGCCGCTCGCTAGCC	0.741																																						uc011ckq.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(844-846)CCG>CCA		HES/HEY-like transcription factor							13.0	15.0	14.0					4																	185941788		2193	4285	6478	SO:0001819	synonymous_variant	391723						DNA binding	g.chr4:185941788G>A	BC144567	CCDS75214.1, CCDS75215.1	4q35.1	2014-07-17	2011-09-12		ENSG00000187821	ENSG00000187821		"""Basic helix-loop-helix proteins"""	33783	protein-coding gene	gene with protein product	"""megane bHLH factor"", ""HES-like"""		"""Hey-like transcription factor (zebrafish)"", ""HES/HEY-like transcription factor"""			14764602, 17611227	Standard	XM_005262989		Approved	HESL, HCM1228, Mgn, bHLHb44, MEGANE	uc011ckq.2	A6NFD8	OTTHUMG00000160484	ENST00000515777.1:c.591G>A	4.37:g.185941788G>A						HELT_uc011cko.1_Silent_p.P197P|HELT_uc003ixa.3_Silent_p.P196P|HELT_uc011ckp.1_Silent_p.P140P	p.P282P	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	4	846	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	282			Pro-rich.		B2RTS5|B7ZMI7|B7ZMI8	Silent	SNP	ENST00000515777.1	37	c.846G>A																																																																																					0.741	HELT-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000360792.1		NM_001300781		4	32	0	0	0	0.009096	0	4	32		
DNAH5	1767	broad.mit.edu	37	5	13865842	13865842	+	Silent	SNP	A	A	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:13865842A>G	ENST00000265104.4	-	27	4394	c.4290T>C	c.(4288-4290)taT>taC	p.Y1430Y	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1430	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Y1430Y(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAGAATATCATAATAGCTAT	0.313									Kartagener syndrome																													uc003jfd.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(4288-4290)TAT>TAC		dynein, axonemal, heavy chain 5							64.0	65.0	65.0					5																	13865842		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13865842A>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4290T>C	5.37:g.13865842A>G							p.Y1430Y	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			27	4332	-	Lung NSC(4;0.00476)		1430			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.4290T>C	CCDS3882.1																																																																																				0.313	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369		15	114	0	0	0	0.020292	0	15	114		
MAST4	375449	broad.mit.edu	37	5	66462291	66462291	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:66462291G>A	ENST00000403625.2	+	29	7579	c.7284G>A	c.(7282-7284)ccG>ccA	p.P2428P	MAST4_ENST00000261569.7_Silent_p.P2234P|MAST4_ENST00000405643.1_Silent_p.P2249P|MAST4_ENST00000404260.3_Silent_p.P2431P|MAST4_ENST00000403666.1_Silent_p.P2239P	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2431						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.P2431P(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGAAGCCACCGACGGAGGCAG	0.652											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jut.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(6715-6717)CCG>CCA		microtubule associated serine/threonine kinase							14.0	20.0	18.0					5																	66462291		1934	4138	6072	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66462291G>A	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.7284G>A	5.37:g.66462291G>A			OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1092	MAST4_uc003juw.2_Silent_p.P2167P|MAST4_uc003jux.2_5'UTR	p.P2239P	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	28	6785	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2431					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.6717G>A	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	0.061	-1.224644	0.01530	.	.	ENSG00000069020	ENST00000443808	.	.	.	4.94	4.06	0.47325	.	.	.	.	.	T	0.25975	0.0633	.	.	.	0.18873	N	0.999982	.	.	.	.	.	.	T	0.17745	-1.0359	4	.	.	.	3.0389	3.9786	0.09486	0.2275:0.0:0.5954:0.1771	.	.	.	.	N	1485	.	.	D	+	1	0	MAST4	66498047	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.678000	0.25277	1.272000	0.44329	0.462000	0.41574	GAC		0.652	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2				3	4	0	0	0	0.014758	0	3	4		
SNCAIP	9627	broad.mit.edu	37	5	121786336	121786336	+	Silent	SNP	T	T	A	rs375165703		TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:121786336T>A	ENST00000261368.8	+	10	2056	c.1794T>A	c.(1792-1794)ctT>ctA	p.L598L	CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000261367.7_Silent_p.L645L|SNCAIP_ENST00000379536.2_Silent_p.L538L|SNCAIP_ENST00000542191.1_Silent_p.L156L|SNCAIP_ENST00000379533.2_Silent_p.L645L|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379538.3_Silent_p.L232L|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000414317.2_Silent_p.L200L|CTC-210G5.1_ENST00000510972.1_RNA	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	598					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.L645L(1)|p.L598L(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TTCAGGTTCTTGGAAGCCTGT	0.478																																						uc003ksw.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)|pancreas(1)	2						c.(1792-1794)CTT>CTA		synuclein alpha interacting protein							71.0	83.0	79.0					5																	121786336		2203	4300	6503	SO:0001819	synonymous_variant	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121786336T>A	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1794T>A	5.37:g.121786336T>A						SNCAIP_uc011cwl.1_Silent_p.L156L|SNCAIP_uc003ksx.1_Silent_p.L645L|SNCAIP_uc003ksy.1_Silent_p.L232L|SNCAIP_uc003ksz.1_Silent_p.L232L|SNCAIP_uc010jcu.2_Silent_p.L194L|SNCAIP_uc011cwm.1_Silent_p.L232L|SNCAIP_uc003kta.1_Silent_p.L230L|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Silent_p.L292L|SNCAIP_uc010jcx.1_Silent_p.L538L|uc003ktb.1_RNA|SNCAIP_uc003ktc.1_Silent_p.L114L	p.L598L	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	10	2000	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	598					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Silent	SNP	ENST00000261368.8	37	c.1794T>A	CCDS4131.1																																																																																				0.478	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1				5	144	0	0	0	0.014758	0	5	144		
PDLIM4	8572	broad.mit.edu	37	5	131607548	131607548	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:131607548G>A	ENST00000253754.3	+	6	799	c.735G>A	c.(733-735)ccG>ccA	p.P245P	P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000379018.3_Intron	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	245							zinc ion binding (GO:0008270)	p.P245P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGGGCGCTCCGCTGAGCGGCC	0.726																																						uc003kwn.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(733-735)CCG>CCA		PDZ and LIM domain 4 isoform 1							12.0	16.0	14.0					5																	131607548		2169	4239	6408	SO:0001819	synonymous_variant	8572						protein binding|zinc ion binding	g.chr5:131607548G>A	AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.735G>A	5.37:g.131607548G>A						uc003kwm.3_Intron|PDLIM4_uc003kwp.2_Intron|PDLIM4_uc003kwo.2_Silent_p.P353P	p.P245P	NM_003687	NP_003678	P50479	PDLI4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	812	+			245					B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Silent	SNP	ENST00000253754.3	37	c.735G>A	CCDS4152.1																																																																																				0.726	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132644.2		NM_003687		8	21	0	0	0	0.00308	0	8	21		
SEC24A	10802	broad.mit.edu	37	5	134041037	134041037	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:134041037C>A	ENST00000398844.2	+	17	2749	c.2461C>A	c.(2461-2463)Cat>Aat	p.H821N		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	821					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.H821N(1)		NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATTCGTGTTCATACTTTGTG	0.373																																						uc003kzs.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2461-2463)CAT>AAT		SEC24 related gene family, member A							246.0	221.0	229.0					5																	134041037		1883	4115	5998	SO:0001583	missense	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134041037C>A	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2461C>A	5.37:g.134041037C>A	ENSP00000381823:p.His821Asn					SEC24A_uc011cxu.1_Missense_Mutation_p.H585N	p.H821N	NM_021982	NP_068817	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		17	2749	+			821					A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	c.2461C>A	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	C	32	5.183673	0.94885	.	.	ENSG00000113615	ENST00000398844	T	0.74842	-0.88	5.98	5.98	0.97165	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	D	0.89870	0.6840	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90289	0.4321	10	0.56958	D	0.05	-23.4772	20.4561	0.99145	0.0:1.0:0.0:0.0	.	585;821	B4E205;O95486	.;SC24A_HUMAN	N	821	ENSP00000381823:H821N	ENSP00000381823:H821N	H	+	1	0	SEC24A	134068936	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.410000	0.80065	2.847000	0.97988	0.591000	0.81541	CAT		0.373	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1				56	112	1	0	4.17463e-26	0.01441	4.78495e-26	56	112		
SEC24A	10802	broad.mit.edu	37	5	134041067	134041067	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:134041067C>T	ENST00000398844.2	+	17	2779	c.2491C>T	c.(2491-2493)Ctg>Ttg	p.L831L		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	831					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.L831L(1)		NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTTTCGACTCTGAATGATGT	0.358																																						uc003kzs.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(2491-2493)CTG>TTG		SEC24 related gene family, member A							247.0	224.0	232.0					5																	134041067		1888	4118	6006	SO:0001819	synonymous_variant	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134041067C>T	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2491C>T	5.37:g.134041067C>T						SEC24A_uc011cxu.1_Silent_p.L595L	p.L831L	NM_021982	NP_068817	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		17	2779	+			831					A8MVW3|Q8WUV2|Q96GP7	Silent	SNP	ENST00000398844.2	37	c.2491C>T	CCDS43363.1																																																																																				0.358	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1				61	128	0	0	0	0.01441	0	61	128		
PCDHB1	29930	broad.mit.edu	37	5	140432966	140432966	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:140432966G>T	ENST00000306549.3	+	1	1988	c.1911G>T	c.(1909-1911)atG>atT	p.M637I		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	637	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.M637I(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGACCCCATGATGCAGAAAT	0.433																																						uc003lik.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1909-1911)ATG>ATT		protocadherin beta 1 precursor							126.0	123.0	124.0					5																	140432966		2203	4300	6503	SO:0001583	missense	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432966G>T	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1911G>T	5.37:g.140432966G>T	ENSP00000307234:p.Met637Ile						p.M637I	NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1988	+			637			Cadherin 6.|Extracellular (Potential).		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.1911G>T	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	4.525	0.097370	0.08681	.	.	ENSG00000171815	ENST00000306549	T	0.58940	0.3	6.08	5.18	0.71444	Cadherin (4);Cadherin-like (1);	0.356490	0.24016	N	0.042321	T	0.39937	0.1097	N	0.12182	0.205	0.26580	N	0.973391	B	0.06786	0.001	B	0.08055	0.003	T	0.07558	-1.0766	10	0.18710	T	0.47	.	16.8733	0.86044	0.0:0.2327:0.7673:0.0	.	637	Q9Y5F3	PCDB1_HUMAN	I	637	ENSP00000307234:M637I	ENSP00000307234:M637I	M	+	3	0	PCDHB1	140413150	0.000000	0.05858	1.000000	0.80357	0.987000	0.75469	-0.072000	0.11486	2.894000	0.99253	0.655000	0.94253	ATG		0.433	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2		NM_013340		8	274	1	0	2.17888e-05	0.006214	2.33366e-05	8	274		
PCDHGA1	56114	broad.mit.edu	37	5	140712541	140712541	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:140712541C>T	ENST00000517417.1	+	1	2290	c.2290C>T	c.(2290-2292)Cgg>Tgg	p.R764W	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R764W	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	764					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R764W(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGACTCGCGGAAGAGCCA	0.582																																						uc003lji.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|breast(1)|pancreas(1)	3						c.(2290-2292)CGG>TGG		protocadherin gamma subfamily A, 1 isoform 1							103.0	113.0	110.0					5																	140712541		2203	4298	6501	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140712541C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2290C>T	5.37:g.140712541C>T	ENSP00000431083:p.Arg764Trp					PCDHGA1_uc011dan.1_Missense_Mutation_p.R764W	p.R764W	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2290	+			764			Cytoplasmic (Potential).		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.2290C>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	.	9.334	1.061310	0.19987	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.52057	0.75;0.68	3.89	0.856	0.19019	.	0.149098	0.30036	N	0.010580	T	0.55242	0.1908	M	0.90595	3.13	0.09310	N	1	P;B	0.50617	0.937;0.118	P;B	0.46718	0.525;0.066	T	0.54262	-0.8320	10	0.87932	D	0	.	6.5454	0.22402	0.4632:0.4522:0.0:0.0845	.	764;764	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	W	764	ENSP00000431083:R764W;ENSP00000367345:R764W	ENSP00000367345:R764W	R	+	1	2	PCDHGA1	140692725	0.000000	0.05858	0.000000	0.03702	0.433000	0.31745	-1.404000	0.02494	0.040000	0.15660	-0.302000	0.09304	CGG		0.582	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1		NM_018912		7	222	0	0	0	0.004482	0	7	222		
PCDHGB2	56103	broad.mit.edu	37	5	140741617	140741617	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:140741617C>T	ENST00000522605.1	+	1	1915	c.1915C>T	c.(1915-1917)Cgc>Tgc	p.R639C	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	639	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R639C(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGCGGCCCGCCAGCGCCT	0.682																																						uc003ljs.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1915-1917)CGC>TGC		protocadherin gamma subfamily B, 2 isoform 1							14.0	16.0	15.0					5																	140741617		1849	4058	5907	SO:0001583	missense	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140741617C>T	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1915C>T	5.37:g.140741617C>T	ENSP00000429018:p.Arg639Cys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.R639C|PCDHGA5_uc011das.1_5'Flank	p.R639C	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1915	+			639			Extracellular (Potential).|Cadherin 6.		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.1915C>T	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	15.58	2.876840	0.51801	.	.	ENSG00000253910	ENST00000522605	T	0.53206	0.63	5.05	4.16	0.48862	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.71307	0.3324	M	0.86740	2.835	0.22342	N	0.999186	D;D	0.89917	1.0;1.0	D;D	0.80764	0.993;0.994	T	0.63734	-0.6570	9	0.87932	D	0	.	12.0901	0.53722	0.4655:0.5345:0.0:0.0	.	639;639	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	C	639	ENSP00000429018:R639C	ENSP00000429018:R639C	R	+	1	0	PCDHGB2	140721801	0.000000	0.05858	1.000000	0.80357	0.924000	0.55760	-0.412000	0.07132	1.217000	0.43442	0.454000	0.30748	CGC		0.682	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1		NM_018923		11	20	0	0	0	0.010729	0	11	20		
GPR151	134391	broad.mit.edu	37	5	145895383	145895383	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:145895383C>T	ENST00000311104.2	-	1	370	c.294G>A	c.(292-294)gcG>gcA	p.A98A		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A98A(3)		endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTTGGAGTACGCCGTAGCTC	0.512																																					Pancreas(78;420 1386 18535 37114 49710)	uc003lod.1		NaN																	3	Substitution - coding silent(3)		lung(2)|urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(292-294)GCG>GCA		G protein-coupled receptor 151							120.0	118.0	119.0					5																	145895383		2203	4300	6503	SO:0001819	synonymous_variant	134391					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:145895383C>T	AY255557	CCDS34266.1	5q32	2012-08-21						"""GPCR / Class A : Orphans"""	23624	protein-coding gene	gene with protein product	"""galanin receptor 4"""					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.294G>A	5.37:g.145895383C>T							p.A98A	NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	294	-			98			Extracellular (Potential).		Q86SN8|Q8NGV2	Silent	SNP	ENST00000311104.2	37	c.294G>A	CCDS34266.1																																																																																				0.512	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1		NM_194251		31	99	0	0	0	0.009535	0	31	99		
TENM2	57451	broad.mit.edu	37	5	167689593	167689593	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:167689593G>C	ENST00000518659.1	+	29	8142	c.8103G>C	c.(8101-8103)caG>caC	p.Q2701H	TENM2_ENST00000519204.1_Missense_Mutation_p.Q2580H|TENM2_ENST00000520394.1_Missense_Mutation_p.Q2462H|TENM2_ENST00000545108.1_Missense_Mutation_p.Q2700H|TENM2_ENST00000403607.2_Missense_Mutation_p.Q2525H	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2701					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.Q2534H(1)|p.Q2580H(1)|p.Q2701H(1)									AGGCGAGACAGAGGGCCCTGG	0.657																																						uc010jjd.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	ovary(6)|central_nervous_system(4)	10						c.(8074-8076)CAG>CAC		odz, odd Oz/ten-m homolog 2							11.0	12.0	12.0					5																	167689593		1998	4147	6145	SO:0001583	missense	57451							g.chr5:167689593G>C	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.8103G>C	5.37:g.167689593G>C	ENSP00000429430:p.Gln2701His					ODZ2_uc003lzr.3_Missense_Mutation_p.Q2462H|ODZ2_uc003lzt.3_Missense_Mutation_p.Q2065H|ODZ2_uc010jje.2_Missense_Mutation_p.Q1956H	p.Q2692H	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	29	8076	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.8076G>C		.	.	.	.	.	.	.	.	.	.	G	17.34	3.365085	0.61513	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89939	-2.12;-2.11;-2.22;-2.57;-2.59	5.25	4.38	0.52667	.	0.000000	0.85682	D	0.000000	D	0.94305	0.8170	M	0.83118	2.625	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;0.988	D;D;D	0.91635	0.999;0.998;0.984	D	0.94696	0.7878	10	0.62326	D	0.03	.	13.9006	0.63802	0.0737:0.0:0.9263:0.0	.	2700;2701;2462	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	H	2701;2700;2580;2462;2525	ENSP00000429430:Q2701H;ENSP00000438635:Q2700H;ENSP00000428964:Q2580H;ENSP00000427874:Q2462H;ENSP00000384905:Q2525H	ENSP00000384905:Q2525H	Q	+	3	2	ODZ2	167622171	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.163000	0.64948	1.352000	0.45808	0.561000	0.74099	CAG		0.657	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1		NM_001122679		3	6	0	0	0	0.004672	0	3	6		
RIPK1	8737	broad.mit.edu	37	6	3104493	3104493	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:3104493G>C	ENST00000259808.4	+	8	1248	c.950G>C	c.(949-951)aGa>aCa	p.R317T	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Missense_Mutation_p.R271T|RIPK1_ENST00000380409.2_Missense_Mutation_p.R317T			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	317	Interaction with SQSTM1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.R317T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GTTGTGAAGAGAATGCAGTCT	0.338																																						uc010jni.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(3)|lung(1)|skin(1)	5						c.(949-951)AGA>ACA		receptor (TNFRSF)-interacting serine-threonine							110.0	107.0	108.0					6																	3104493		2203	4300	6503	SO:0001583	missense	8737				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	g.chr6:3104493G>C	U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.950G>C	6.37:g.3104493G>C	ENSP00000259808:p.Arg317Thr					RIPK1_uc003muv.3_Missense_Mutation_p.R154T|RIPK1_uc003muw.3_Missense_Mutation_p.R252T|RIPK1_uc011dhs.1_Missense_Mutation_p.R271T|RIPK1_uc003mux.2_Missense_Mutation_p.R317T	p.R317T	NM_003804	NP_003795	Q13546	RIPK1_HUMAN			8	1182	+	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	317			Interaction with SQSTM1.		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	ENST00000259808.4	37	c.950G>C	CCDS4482.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479655	0.44044	.	.	ENSG00000137275	ENST00000259808;ENST00000541791;ENST00000380409	T;T;T	0.78481	-1.18;-0.74;-1.18	5.07	4.2	0.49525	.	0.086790	0.85682	D	0.000000	T	0.78329	0.4266	M	0.71581	2.175	0.46416	D	0.999031	D;D	0.63046	0.992;0.986	P;P	0.54544	0.755;0.548	T	0.81716	-0.0806	10	0.72032	D	0.01	-23.3273	12.9896	0.58612	0.0812:0.0:0.9188:0.0	.	271;317	Q13546-2;Q13546	.;RIPK1_HUMAN	T	317;271;317	ENSP00000259808:R317T;ENSP00000442294:R271T;ENSP00000369773:R317T	ENSP00000259808:R317T	R	+	2	0	RIPK1	3049492	1.000000	0.71417	0.986000	0.45419	0.467000	0.32768	2.283000	0.43470	1.247000	0.43917	0.650000	0.86243	AGA		0.338	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2		NM_003804		56	51	0	0	0	0.01441	0	56	51		
FAM50B	26240	broad.mit.edu	37	6	3850910	3850910	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:3850910G>A	ENST00000380274.1	+	1	1291	c.865G>A	c.(865-867)Gcg>Acg	p.A289T	FAM50B_ENST00000380272.3_Missense_Mutation_p.A289T			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	289						nucleus (GO:0005634)		p.A289T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CGAGTCGCACGCGGGCAAGGT	0.642																																						uc003mvu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(865-867)GCG>ACG		family with sequence similarity 50, member B							73.0	61.0	65.0					6																	3850910		2203	4300	6503	SO:0001583	missense	26240					nucleus		g.chr6:3850910G>A	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.865G>A	6.37:g.3850910G>A	ENSP00000369627:p.Ala289Thr						p.A289T	NM_012135	NP_036267	Q9Y247	FA50B_HUMAN			2	977	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	289					Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	37	c.865G>A	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543738	0.86022	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.23	3.33	0.38152	.	0.000000	0.85682	D	0.000000	T	0.69726	0.3143	M	0.79926	2.475	0.53688	D	0.999977	D	0.89917	1.0	D	0.78314	0.991	T	0.70204	-0.4936	9	0.32370	T	0.25	-30.609	11.8508	0.52410	0.0:0.1786:0.8214:0.0	.	289	Q9Y247	FA50B_HUMAN	T	289	.	ENSP00000369625:A289T	A	+	1	0	FAM50B	3795909	1.000000	0.71417	0.987000	0.45799	0.958000	0.62258	5.495000	0.66912	1.102000	0.41551	0.555000	0.69702	GCG		0.642	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1		NM_012135		23	56	0	0	0	0.01892	0	23	56		
NUP153	9972	broad.mit.edu	37	6	17675597	17675597	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:17675597T>C	ENST00000262077.2	-	4	585	c.586A>G	c.(586-588)Ata>Gta	p.I196V	NUP153_ENST00000537253.1_Missense_Mutation_p.I196V	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	196					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.I196V(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GAAACAGTTATATCTGAAACA	0.353																																						uc003ncd.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(4)|ovary(2)|breast(2)|skin(1)	9						c.(586-588)ATA>GTA		nucleoporin 153kDa							100.0	101.0	100.0					6																	17675597		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17675597T>C	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.586A>G	6.37:g.17675597T>C	ENSP00000262077:p.Ile196Val					NUP153_uc011dje.1_Missense_Mutation_p.I196V|NUP153_uc010jpl.1_Missense_Mutation_p.I196V	p.I196V	NM_005124	NP_005115	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		4	786	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	196					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.586A>G	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	T	11.53	1.666291	0.29604	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.28069	1.63;1.63	5.74	4.51	0.55191	Nucleoporin, Nup153-like (1);	0.104471	0.42548	D	0.000697	T	0.12603	0.0306	L	0.38175	1.15	0.40522	D	0.980843	B;B;B	0.34200	0.441;0.075;0.171	B;B;B	0.35240	0.198;0.111;0.168	T	0.05632	-1.0873	10	0.20519	T	0.43	-11.2247	12.5882	0.56428	0.0:0.0:0.1383:0.8617	.	196;218;196	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	V	196;218;196	ENSP00000262077:I196V;ENSP00000444029:I196V	ENSP00000262077:I196V	I	-	1	0	NUP153	17783576	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.997000	0.49457	2.197000	0.70478	0.528000	0.53228	ATA		0.353	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1				16	52	0	0	0	0.004007	0	16	52		
HIST1H3F	8968	broad.mit.edu	37	6	26250692	26250692	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:26250692C>T	ENST00000446824.2	-	1	143	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	HIST1H2BH_ENST00000356350.2_5'Flank	NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	48					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.A48T(1)		lung(6)|urinary_tract(1)	7						TCACGGAGGGCGACAGTACCA	0.607																																						uc003nhg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(142-144)GCC>ACC		histone cluster 1, H3f							102.0	105.0	104.0					6																	26250692		2203	4300	6503	SO:0001583	missense	8968				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26250692C>T	Z80786	CCDS4600.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000256316	ENSG00000277775		"""Histones / Replication-dependent"""	4773	protein-coding gene	gene with protein product		602816	"""H3 histone family, member I"", ""histone 1, H3f"""	H3FI		9119399, 12408966	Standard	NM_021018		Approved	H3/i	uc003nhg.1	P68431	OTTHUMG00000014435	ENST00000446824.2:c.142G>A	6.37:g.26250692C>T	ENSP00000444823:p.Ala48Thr					HIST1H2BH_uc003nhh.2_5'Flank	p.A48T	NM_021018	NP_066298	P68431	H31_HUMAN			1	144	-			48					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000446824.2	37	c.142G>A	CCDS4600.1	.	.	.	.	.	.	.	.	.	.	.	17.20	3.329309	0.60743	.	.	ENSG00000256316	ENST00000446824	T	0.50813	0.73	4.82	4.82	0.62117	.	.	.	.	.	T	0.60405	0.2266	.	.	.	0.47819	D	0.99952	.	.	.	.	.	.	T	0.64799	-0.6322	6	0.72032	D	0.01	.	17.7536	0.88442	0.0:1.0:0.0:0.0	.	.	.	.	T	48	ENSP00000444823:A48T	ENSP00000444823:A48T	A	-	1	0	HIST1H3F	26358671	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	7.484000	0.81180	2.602000	0.87976	0.561000	0.74099	GCC		0.607	HIST1H3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040098.1		NM_021018		21	134	0	0	0	0.004656	0	21	134		
TRIM26	7726	broad.mit.edu	37	6	30154266	30154266	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:30154266G>A	ENST00000454678.2	-	10	1443	c.1007C>T	c.(1006-1008)aCc>aTc	p.T336I	TRIM26_ENST00000453195.1_Missense_Mutation_p.T336I|TRIM26_ENST00000437089.1_Missense_Mutation_p.T336I	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	336	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.T336I(1)		lung(1)|ovary(2)	3						GCTGGTGTAGGTCACGCACTT	0.577																																						uc003npr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(1)	3						c.(1006-1008)ACC>ATC		tripartite motif-containing 26							66.0	60.0	62.0					6																	30154266		1511	2708	4219	SO:0001583	missense	7726						DNA binding|zinc ion binding	g.chr6:30154266G>A	AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12962	protein-coding gene	gene with protein product		600830	"""tripartite motif-containing 26"""	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.1007C>T	6.37:g.30154266G>A	ENSP00000410446:p.Thr336Ile					TRIM26_uc003nps.2_Missense_Mutation_p.T336I|TRIM26_uc010jry.2_Missense_Mutation_p.T66I|TRIM26_uc003npt.2_Missense_Mutation_p.T336I	p.T336I	NM_003449	NP_003440	Q12899	TRI26_HUMAN			9	1216	-			336			B30.2/SPRY.		A6NG96|Q5SRL2	Missense_Mutation	SNP	ENST00000454678.2	37	c.1007C>T	CCDS4678.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.422082	0.01126	.	.	ENSG00000234127	ENST00000453195;ENST00000454678;ENST00000437089	T;T;T	0.02631	4.22;4.22;4.22	5.78	3.07	0.35406	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.432182	0.19722	N	0.107570	T	0.00998	0.0033	L	0.48218	1.51	0.09310	N	1	B;B	0.26577	0.153;0.153	B;B	0.25987	0.065;0.065	T	0.48747	-0.9008	10	0.37606	T	0.19	.	5.4749	0.16690	0.2287:0.1466:0.6247:0.0	.	336;336	Q5SRL2;Q12899	.;TRI26_HUMAN	I	336	ENSP00000391879:T336I;ENSP00000410446:T336I;ENSP00000395491:T336I	ENSP00000395491:T336I	T	-	2	0	TRIM26	30262245	0.007000	0.16637	0.001000	0.08648	0.001000	0.01503	0.076000	0.14712	0.376000	0.24707	-0.277000	0.10078	ACC		0.577	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253442.1		NM_003449		4	87	0	0	0	0.009096	0	4	87		
NOTCH4	4855	broad.mit.edu	37	6	32169171	32169171	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:32169171C>T	ENST00000375023.3	-	22	4000	c.3862G>A	c.(3862-3864)Gat>Aat	p.D1288N		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1288					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.D1288N(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGGTCCCCATCTTCAGGCCTG	0.627																																						uc003obb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(3862-3864)GAT>AAT		notch4 preproprotein							45.0	44.0	44.0					6																	32169171		1510	2709	4219	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32169171C>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3862G>A	6.37:g.32169171C>T	ENSP00000364163:p.Asp1288Asn					NOTCH4_uc003oba.2_5'UTR|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	p.D1288N	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			22	4001	-			1288			LNR 3.|Extracellular (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.3862G>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.246066	0.22796	.	.	ENSG00000204301	ENST00000375023	T	0.80909	-1.43	4.35	3.45	0.39498	Notch domain (1);	1.553920	0.04639	N	0.404984	T	0.56077	0.1961	N	0.19112	0.55	0.80722	D	1	B	0.13594	0.008	B	0.22386	0.039	T	0.17077	-1.0381	10	0.27082	T	0.32	.	11.7944	0.52090	0.0:0.8208:0.1792:0.0	.	1288	Q99466	NOTC4_HUMAN	N	1288	ENSP00000364163:D1288N	ENSP00000364163:D1288N	D	-	1	0	NOTCH4	32277149	0.124000	0.22315	0.002000	0.10522	0.990000	0.78478	3.894000	0.56250	1.035000	0.39972	0.555000	0.69702	GAT		0.627	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2				20	45	0	0	0	0.007413	0	20	45		
TRERF1	55809	broad.mit.edu	37	6	42236137	42236137	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:42236137G>A	ENST00000372922.4	-	5	1754	c.1192C>T	c.(1192-1194)Cag>Tag	p.Q398*	TRERF1_ENST00000541110.1_Nonsense_Mutation_p.Q398*|TRERF1_ENST00000354325.2_Nonsense_Mutation_p.Q398*|TRERF1_ENST00000340840.2_Nonsense_Mutation_p.Q398*|TRERF1_ENST00000372917.4_Nonsense_Mutation_p.Q398*	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	398	Gln-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Q398*(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGCTGGTGCTGGGACAGGTGG	0.627																																						uc003osd.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(1192-1194)CAG>TAG		transcriptional regulating factor 1							77.0	78.0	78.0					6																	42236137		2203	4300	6503	SO:0001587	stop_gained	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42236137G>A	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1192C>T	6.37:g.42236137G>A	ENSP00000362013:p.Gln398*					TRERF1_uc011duq.1_Nonsense_Mutation_p.Q398*|TRERF1_uc003osb.2_Nonsense_Mutation_p.Q237*|TRERF1_uc003osc.2_Nonsense_Mutation_p.Q237*|TRERF1_uc003ose.2_Nonsense_Mutation_p.Q398*	p.Q398*	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	1755	-	Colorectal(47;0.196)		398			Gln-rich.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Nonsense_Mutation	SNP	ENST00000372922.4	37	c.1192C>T	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	G	43	9.848429	0.99279	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	.	.	.	5.79	5.79	0.91817	.	0.000000	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-11.5123	19.6316	0.95708	0.0:0.0:1.0:0.0	.	.	.	.	X	398	.	ENSP00000339438:Q398X	Q	-	1	0	TRERF1	42344115	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	7.880000	0.87243	2.735000	0.93741	0.561000	0.74099	CAG		0.627	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2		NM_033502		106	103	0	0	0	0.01441	0	106	103		
XPO5	57510	broad.mit.edu	37	6	43538336	43538336	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:43538336C>A	ENST00000265351.7	-	5	734	c.524G>T	c.(523-525)aGa>aTa	p.R175I		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	175					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)	p.R175I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GATGTCCCTTCTTCTTTGAGG	0.403																																						uc003ovp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|breast(1)|kidney(1)	4						c.(523-525)AGA>ATA		exportin 5							176.0	171.0	173.0					6																	43538336		1885	4117	6002	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43538336C>A	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.524G>T	6.37:g.43538336C>A	ENSP00000265351:p.Arg175Ile						p.R175I	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		5	735	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		175					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.524G>T	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	C	35	5.585709	0.96578	.	.	ENSG00000124571	ENST00000265351	T	0.70869	-0.52	5.78	5.78	0.91487	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82728	0.5100	M	0.79258	2.445	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.80578	-0.1320	10	0.45353	T	0.12	-14.8906	20.3668	0.98882	0.0:1.0:0.0:0.0	.	175	Q9HAV4	XPO5_HUMAN	I	175	ENSP00000265351:R175I	ENSP00000265351:R175I	R	-	2	0	XPO5	43646314	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.894000	0.99253	0.655000	0.94253	AGA		0.403	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2		NM_020750		73	355	1	0	2.69673e-31	0.01441	3.10918e-31	73	355		
MCM9	254394	broad.mit.edu	37	6	119232920	119232920	+	Silent	SNP	A	A	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:119232920A>G	ENST00000316316.6	-	7	1331	c.1045T>C	c.(1045-1047)Tta>Cta	p.L349L	MCM9_ENST00000316068.3_Silent_p.L349L	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	349	MCM.				cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.L349L(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		CCAACCAATAAAAGATGAGAT	0.368																																						uc003pyh.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(1045-1047)TTA>CTA		minichromosome maintenance complex component 9							73.0	68.0	69.0					6																	119232920		2203	4300	6503	SO:0001819	synonymous_variant	254394				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr6:119232920A>G	BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.1045T>C	6.37:g.119232920A>G							p.L349L	NM_153255	NP_694987	Q9NXL9	MCM9_HUMAN		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)	7	1308	-		all_cancers(87;0.122)|all_epithelial(87;0.179)	349			MCM.		B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Silent	SNP	ENST00000316316.6	37	c.1045T>C	CCDS56447.1																																																																																				0.368	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4		NM_153255		31	50	0	0	0	0.013726	0	31	50		
PTPRK	5796	broad.mit.edu	37	6	128411080	128411080	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:128411080G>A	ENST00000368215.3	-	8	1219	c.1220C>T	c.(1219-1221)gCt>gTt	p.A407V	PTPRK_ENST00000368227.3_Missense_Mutation_p.A407V|PTPRK_ENST00000368226.4_Missense_Mutation_p.A407V|PTPRK_ENST00000368213.5_Missense_Mutation_p.A407V|PTPRK_ENST00000368207.3_Missense_Mutation_p.A407V|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.A407V|PTPRK_ENST00000532331.1_Missense_Mutation_p.A407V			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	407	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A407V(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCAGTCCACAGCAATCCGTCT	0.418																																						uc003qbk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8						c.(1219-1221)GCT>GTT		protein tyrosine phosphatase, receptor type, K							137.0	121.0	126.0					6																	128411080		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128411080G>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1220C>T	6.37:g.128411080G>A	ENSP00000357198:p.Ala407Val					PTPRK_uc003qbj.2_Missense_Mutation_p.A407V|PTPRK_uc010kfc.2_Missense_Mutation_p.A407V|PTPRK_uc011ebu.1_Missense_Mutation_p.A407V|PTPRK_uc003qbl.1_Missense_Mutation_p.A277V|PTPRK_uc011ebv.1_Missense_Mutation_p.A407V	p.A407V	NM_002844	NP_002835	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	8	1587	-			407			Extracellular (Potential).|Fibronectin type-III 2.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.1220C>T		.	.	.	.	.	.	.	.	.	.	G	22.7	4.323802	0.81580	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.86	5.86	0.93980	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.50514	0.1620	L	0.36672	1.1	0.80722	D	1	D;P;P;P;D;D	0.67145	0.993;0.779;0.859;0.845;0.993;0.996	D;B;B;B;D;D	0.72625	0.978;0.23;0.406;0.343;0.935;0.971	T	0.22556	-1.0213	10	0.19590	T	0.45	.	20.1739	0.98173	0.0:0.0:1.0:0.0	.	407;407;407;264;407;407	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	V	407;407;407;407;407;407;407;264	ENSP00000357209:A407V;ENSP00000357210:A407V;ENSP00000432973:A407V;ENSP00000357196:A407V;ENSP00000357193:A407V;ENSP00000357198:A407V;ENSP00000357190:A407V	ENSP00000357190:A407V	A	-	2	0	PTPRK	128452773	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.476000	0.97823	2.774000	0.95407	0.585000	0.79938	GCT		0.418	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1				9	78	0	0	0	0.006214	0	9	78		
GRM1	2911	broad.mit.edu	37	6	146350852	146350852	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:146350852T>A	ENST00000282753.1	+	1	434	c.199T>A	c.(199-201)Tgt>Agt	p.C67S	GRM1_ENST00000355289.4_Missense_Mutation_p.C67S|GRM1_ENST00000507907.1_Missense_Mutation_p.C67S|GRM1_ENST00000492807.2_Missense_Mutation_p.C67S|GRM1_ENST00000361719.2_Missense_Mutation_p.C67S|GRM1_ENST00000392299.2_Missense_Mutation_p.C67S			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	67					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.C67S(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CGAGAGGAAGTGTGGGGAGAT	0.592																																						uc010khw.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(199-201)TGT>AGT		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						74.0	67.0	69.0					6																	146350852		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146350852T>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.199T>A	6.37:g.146350852T>A	ENSP00000282753:p.Cys67Ser					GRM1_uc010khu.1_Missense_Mutation_p.C67S|GRM1_uc010khv.1_Missense_Mutation_p.C67S|GRM1_uc003qll.2_Missense_Mutation_p.C67S|GRM1_uc011edz.1_Missense_Mutation_p.C67S|GRM1_uc011eea.1_Missense_Mutation_p.C67S	p.C67S	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	669	+		Ovarian(120;0.0387)	67			Extracellular (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.199T>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.568886	0.86439	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.89448	0.6718	M	0.87971	2.92	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.991;0.999;1.0	D	0.91517	0.5231	10	0.87932	D	0	.	15.7244	0.77743	0.0:0.0:0.0:1.0	.	67;67;62;67	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	S	67	ENSP00000354896:C67S;ENSP00000376119:C67S;ENSP00000424095:C67S;ENSP00000282753:C67S;ENSP00000347437:C67S;ENSP00000425599:C67S	ENSP00000282753:C67S	C	+	1	0	GRM1	146392545	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	2.116000	0.64780	0.459000	0.35465	TGT		0.592	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1		NM_000838		3	74	0	0	0	0.009096	0	3	74		
BRAT1	221927	broad.mit.edu	37	7	2586960	2586960	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr7:2586960G>A	ENST00000340611.4	-	3	536	c.280C>T	c.(280-282)Cag>Tag	p.Q94*		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	94					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)		p.Q94*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						AGGCTCACCTGAAGATACTGG	0.602																																						uc003smi.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(280-282)CAG>TAG		hypothetical protein LOC221927 precursor							65.0	60.0	62.0					7																	2586960		2203	4300	6503	SO:0001587	stop_gained	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2586960G>A	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.280C>T	7.37:g.2586960G>A	ENSP00000339637:p.Gln94*					C7orf27_uc003smj.1_Nonsense_Mutation_p.Q94*	p.Q94*	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)	3	322	-		Ovarian(82;0.0779)	94					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Nonsense_Mutation	SNP	ENST00000340611.4	37	c.280C>T	CCDS5334.1	.	.	.	.	.	.	.	.	.	.	G	39	7.346882	0.98228	.	.	ENSG00000106009	ENST00000340611	.	.	.	5.01	5.01	0.66863	.	0.285942	0.34750	N	0.003705	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-26.0284	16.0942	0.81110	0.0:0.0:1.0:0.0	.	.	.	.	X	94	.	ENSP00000339637:Q94X	Q	-	1	0	BRAT1	2553486	1.000000	0.71417	0.988000	0.46212	0.973000	0.67179	3.425000	0.52771	2.331000	0.79229	0.650000	0.86243	CAG		0.602	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2		NM_152743		31	66	0	0	0	0.010818	0	31	66		
RADIL	55698	broad.mit.edu	37	7	4845343	4845343	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr7:4845343C>G	ENST00000399583.3	-	10	2331	c.2144G>C	c.(2143-2145)aGc>aCc	p.S715T	RADIL_ENST00000538469.1_Missense_Mutation_p.S475T|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	715	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)		p.S715T(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGCTGTCCAGCTCATCTGGGT	0.662																																						uc003snj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7						c.(2143-2145)AGC>ACC		Rap GTPase interactor							20.0	25.0	24.0					7																	4845343		2101	4258	6359	SO:0001583	missense	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4845343C>G	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.2144G>C	7.37:g.4845343C>G	ENSP00000382492:p.Ser715Thr					RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Missense_Mutation_p.S220T|RADIL_uc011jwc.1_Missense_Mutation_p.S475T|RADIL_uc011jwd.1_RNA|RADIL_uc003snh.1_5'Flank	p.S715T	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	10	2317	-		Ovarian(82;0.0175)	715			Dilute.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.2144G>C	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	C	8.314	0.822801	0.16678	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000544486;ENST00000538469	T;T	0.08282	3.18;3.11	5.22	3.39	0.38822	Dilute (1);Dil domain (1);	0.261014	0.37669	N	0.001998	T	0.06188	0.0160	N	0.25332	0.735	0.80722	D	1	B	0.25169	0.119	B	0.28849	0.095	T	0.39941	-0.9589	10	0.30078	T	0.28	-21.7628	7.0485	0.25059	0.0:0.4754:0.4154:0.1091	.	715	Q96JH8	RADIL_HUMAN	T	715;686;449;475	ENSP00000382492:S715T;ENSP00000442966:S475T	ENSP00000320946:S686T	S	-	2	0	RADIL	4811869	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	3.222000	0.51223	0.584000	0.29591	0.561000	0.74099	AGC		0.662	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2		NM_018059		21	47	0	0	0	0.010504	0	21	47		
AUTS2	26053	broad.mit.edu	37	7	69583197	69583197	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr7:69583197G>T	ENST00000342771.4	+	3	923	c.602G>T	c.(601-603)aGc>aTc	p.S201I	AUTS2_ENST00000406775.2_Missense_Mutation_p.S201I|AUTS2_ENST00000403018.2_Missense_Mutation_p.S201I	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	201								p.S201I(1)		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)		CACCGGAGCAGCTCTCGGGAA	0.438																																						uc003tvw.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(601-603)AGC>ATC		autism susceptibility candidate 2 isoform 1							51.0	52.0	52.0					7																	69583197		2203	4300	6503	SO:0001583	missense	26053							g.chr7:69583197G>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.602G>T	7.37:g.69583197G>T	ENSP00000344087:p.Ser201Ile					AUTS2_uc003tvv.3_Missense_Mutation_p.S201I|AUTS2_uc003tvx.3_Missense_Mutation_p.S201I	p.S201I	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	3	1345	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	201					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.602G>T	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380024	0.82682	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000403018	T;T	0.35236	1.32;1.34	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000005	T	0.50051	0.1593	L	0.42245	1.32	0.32419	N	0.549663	D;D;D	0.71674	0.96;0.96;0.998	P;P;D	0.69142	0.711;0.643;0.962	T	0.54456	-0.8291	9	.	.	.	-14.2287	14.7806	0.69764	0.0:0.1438:0.8562:0.0	.	201;201;201	Q8WXX7-2;Q8WXX7;Q6PJU5	.;AUTS2_HUMAN;.	I	201	ENSP00000385263:S201I;ENSP00000344087:S201I	.	S	+	2	0	AUTS2	69221133	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.258000	0.65479	2.777000	0.95525	0.655000	0.94253	AGC		0.438	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2				9	93	1	0	0.000274275	0.004482	0.000290583	9	93		
COL1A2	1278	broad.mit.edu	37	7	94047865	94047865	+	Splice_Site	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr7:94047865G>A	ENST00000297268.6	+	33	2496		c.e33+1			NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2						blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.?(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTGCTCGTGTGAGTAGAAT	0.348										HNSCC(75;0.22)																												uc003ung.1		NaN																COL1A2/PLAG1(3)	1	Unknown(1)		urinary_tract(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.e33+1		alpha 2 type I collagen precursor	Collagenase(DB00048)						181.0	173.0	176.0					7																	94047865		2203	4300	6503	SO:0001630	splice_region_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94047865G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2025+1G>A	7.37:g.94047865G>A		HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Splice_Site	p.R675_splice	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		33	2496	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)							P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Splice_Site	SNP	ENST00000297268.6	37	c.2025_splice	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139908	0.77775	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5471	0.99284	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL1A2	93885801	1.000000	0.71417	0.999000	0.59377	0.726000	0.41606	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	.		0.348	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2		NM_000089	Intron	40	75	0	0	0	0.010771	0	40	75		
CPED1	79974	broad.mit.edu	37	7	120740100	120740100	+	Silent	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr7:120740100G>T	ENST00000310396.5	+	7	1337	c.870G>T	c.(868-870)tcG>tcT	p.S290S	CPED1_ENST00000423795.1_Silent_p.S70S|CPED1_ENST00000450913.2_Silent_p.S290S	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	290						endoplasmic reticulum (GO:0005783)		p.S290S(1)									TCATTCATTCGACGGGCACAG	0.423																																						uc003vjq.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(868-870)TCG>TCT		hypothetical protein LOC79974 isoform 1							150.0	129.0	136.0					7																	120740100		2203	4300	6503	SO:0001819	synonymous_variant	79974					endoplasmic reticulum		g.chr7:120740100G>T		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.870G>T	7.37:g.120740100G>T						C7orf58_uc003vjr.1_Silent_p.S290S|C7orf58_uc003vjs.3_Silent_p.S290S|C7orf58_uc003vjt.3_Silent_p.S70S|C7orf58_uc010lkk.1_Silent_p.S70S	p.S290S	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			7	1317	+	all_neural(327;0.117)		290					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	ENST00000310396.5	37	c.870G>T	CCDS34739.1																																																																																				0.423	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1		NM_024913		31	52	1	0	9.78485e-24	0.013726	1.11502e-23	31	52		
PLXNA4	91584	broad.mit.edu	37	7	131910975	131910975	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr7:131910975C>T	ENST00000359827.3	-	8	2889	c.1927G>A	c.(1927-1929)Ggc>Agc	p.G643S	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G643S			Q9HCM2	PLXA4_HUMAN	plexin A4	643					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.G643S(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AAGGTCATGCCGGTCTCCTTT	0.557																																						uc003vra.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(1927-1929)GGC>AGC		plexin A4 isoform 1							155.0	156.0	156.0					7																	131910975		2032	4188	6220	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131910975C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1927G>A	7.37:g.131910975C>T	ENSP00000352882:p.Gly643Ser						p.G643S	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			8	2156	-			643			Extracellular (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.1927G>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692144	0.88735	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.00976	5.48;5.48	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.05686	0.0149	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.27054	-1.0085	10	0.51188	T	0.08	.	18.9935	0.92803	0.0:1.0:0.0:0.0	.	643	Q9HCM2	PLXA4_HUMAN	S	643	ENSP00000323194:G643S;ENSP00000352882:G643S	ENSP00000323194:G643S	G	-	1	0	PLXNA4	131561515	1.000000	0.71417	0.965000	0.40720	0.383000	0.30230	7.755000	0.85180	2.675000	0.91044	0.591000	0.81541	GGC		0.557	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2		NM_181775		90	149	0	0	0	0.01441	0	90	149		
ESRP1	54845	broad.mit.edu	37	8	95674784	95674784	+	Splice_Site	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr8:95674784G>A	ENST00000433389.2	+	6	834		c.e6+1		ESRP1_ENST00000423620.2_Splice_Site|ESRP1_ENST00000358397.5_Splice_Site|ESRP1_ENST00000454170.2_Splice_Site	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1						mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)	p.?(2)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GTGGAACTTGGTAAGTGCTTG	0.348																																						uc003ygq.3		NaN																ESRP1/RAF1(4)	2	Unknown(2)		urinary_tract(2)	prostate(4)	4						c.e6+1		RNA binding motif protein 35A isoform 1							101.0	93.0	96.0					8																	95674784		1818	4074	5892	SO:0001630	splice_region_variant	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95674784G>A	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.644+1G>A	8.37:g.95674784G>A						ESRP1_uc003ygr.3_Splice_Site_p.C215_splice|ESRP1_uc003ygs.3_Splice_Site_p.C215_splice|ESRP1_uc003ygt.3_Splice_Site_p.C215_splice|ESRP1_uc003ygu.3_Splice_Site_p.C215_splice|ESRP1_uc003ygv.2_Splice_Site_p.C55_splice|ESRP1_uc003ygw.2_Splice_Site_p.C55_splice	p.C215_splice	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN			6	827	+								A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Splice_Site	SNP	ENST00000433389.2	37	c.644_splice	CCDS47897.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393404	0.83011	.	.	ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000519505;ENST00000517610	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7537	0.96281	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ESRP1	95743960	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	9.634000	0.98435	2.736000	0.93811	0.591000	0.81541	.		0.348	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1		NM_017697	Intron	14	25	0	0	0	0.004007	0	14	25		
TOPORS	10210	broad.mit.edu	37	9	32544237	32544237	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:32544237C>T	ENST00000360538.2	-	3	402	c.286G>A	c.(286-288)Gat>Aat	p.D96N	TOPORS_ENST00000379858.1_Missense_Mutation_p.D31N	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	96	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D96N(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		GGAGATGCATCAGCTGGTACT	0.388																																						uc003zrb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(286-288)GAT>AAT		topoisomerase I binding, arginine/serine-rich							79.0	82.0	81.0					9																	32544237		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32544237C>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.286G>A	9.37:g.32544237C>T	ENSP00000353735:p.Asp96Asn					TOPORS_uc003zrc.2_Missense_Mutation_p.D29N	p.D96N	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	453	-			96			E3 ubiquitin-protein ligase activity.|Required for DNA-binding.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.286G>A	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400181	0.62177	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.68903	-0.36;-0.36	5.39	5.39	0.77823	.	0.000000	0.50627	D	0.000115	T	0.55178	0.1904	N	0.08118	0	0.37125	D	0.901002	P	0.50272	0.933	P	0.46479	0.518	T	0.66035	-0.6023	10	0.49607	T	0.09	-25.0787	18.3171	0.90225	0.0:1.0:0.0:0.0	.	96	Q9NS56	TOPRS_HUMAN	N	96;31	ENSP00000353735:D96N;ENSP00000369187:D31N	ENSP00000353735:D96N	D	-	1	0	TOPORS	32534237	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.644000	0.61397	2.695000	0.91970	0.655000	0.94253	GAT		0.388	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1		NM_005802		7	91	0	0	0	0.001984	0	7	91		
TOPORS	10210	broad.mit.edu	37	9	32544239	32544239	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:32544239G>A	ENST00000360538.2	-	3	400	c.284C>T	c.(283-285)gCt>gTt	p.A95V	TOPORS_ENST00000379858.1_Missense_Mutation_p.A30V	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	95	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A95V(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AGATGCATCAGCTGGTACTGT	0.388																																						uc003zrb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(283-285)GCT>GTT		topoisomerase I binding, arginine/serine-rich							78.0	81.0	80.0					9																	32544239		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32544239G>A	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.284C>T	9.37:g.32544239G>A	ENSP00000353735:p.Ala95Val					TOPORS_uc003zrc.2_Missense_Mutation_p.A28V	p.A95V	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	451	-			95			E3 ubiquitin-protein ligase activity.|Required for DNA-binding.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.284C>T	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649822	0.47362	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.66815	-0.23;-0.23	5.39	4.48	0.54585	.	0.000000	0.48286	D	0.000184	T	0.46464	0.1394	N	0.08118	0	0.33715	D	0.616239	B	0.14012	0.009	B	0.13407	0.009	T	0.56739	-0.7929	10	0.54805	T	0.06	-9.6745	12.8307	0.57744	0.0807:0.0:0.9193:0.0	.	95	Q9NS56	TOPRS_HUMAN	V	95;30	ENSP00000353735:A95V;ENSP00000369187:A30V	ENSP00000353735:A95V	A	-	2	0	TOPORS	32534239	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	2.348000	0.44045	2.695000	0.91970	0.655000	0.94253	GCT		0.388	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1		NM_005802		7	90	0	0	0	0.001984	0	7	90		
IPPK	64768	broad.mit.edu	37	9	95397569	95397569	+	Missense_Mutation	SNP	G	G	A	rs369210321		TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:95397569G>A	ENST00000287996.3	-	10	1214	c.938C>T	c.(937-939)tCg>tTg	p.S313L	IPPK_ENST00000375522.1_Intron	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	313					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)	p.S313L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						CGGTAACCCCGAGCGCTCTGG	0.552											OREG0019315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004asl.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(937-939)TCG>TTG		inositol 1,3,4,5,6-pentakisphosphate 2-kinase		G	LEU/SER	0,4406		0,0,2203	77.0	73.0	74.0		938	4.6	1.0	9		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	IPPK	NM_022755.5	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	313/492	95397569	1,13005	2203	4300	6503	SO:0001583	missense	64768				inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity	g.chr9:95397569G>A	AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 12"""	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.938C>T	9.37:g.95397569G>A	ENSP00000287996:p.Ser313Leu		OREG0019315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1312	IPPK_uc004ask.1_Missense_Mutation_p.S12L	p.S313L	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN			10	1215	-			313					Q5T9F7|Q9H7V8	Missense_Mutation	SNP	ENST00000287996.3	37	c.938C>T	CCDS6699.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711994	0.68730	0.0	1.16E-4	ENSG00000127080	ENST00000287996	T	0.31510	1.49	4.64	4.64	0.57946	.	0.382766	0.27539	N	0.018908	T	0.21347	0.0514	N	0.22421	0.69	0.80722	D	1	P;P	0.48407	0.91;0.898	B;B	0.41374	0.143;0.355	T	0.03651	-1.1016	10	0.07813	T	0.8	-9.5437	18.3967	0.90501	0.0:0.0:1.0:0.0	.	313;12	Q9H8X2;B3KVX7	IPPK_HUMAN;.	L	313	ENSP00000287996:S313L	ENSP00000287996:S313L	S	-	2	0	IPPK	94437390	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.700000	0.74619	2.509000	0.84616	0.561000	0.74099	TCG		0.552	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053101.1		NM_022755		10	70	0	0	0	0.006214	0	10	70		
GABBR2	9568	broad.mit.edu	37	9	101258739	101258739	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:101258739C>T	ENST00000259455.2	-	4	1147	c.688G>A	c.(688-690)Gag>Aag	p.E230K	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	230					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)	p.E230K(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GAGAAGCTCTCGGTGTCTGAA	0.542																																						uc004ays.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)	4						c.(688-690)GAG>AAG		G protein-coupled receptor 51 precursor	Baclofen(DB00181)						171.0	148.0	156.0					9																	101258739		2203	4300	6503	SO:0001583	missense	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101258739C>T	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.688G>A	9.37:g.101258739C>T	ENSP00000259455:p.Glu230Lys						p.E230K	NM_005458	NP_005449	O75899	GABR2_HUMAN			4	844	-		Acute lymphoblastic leukemia(62;0.0527)	230			Extracellular (Potential).		O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	c.688G>A	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	C	32	5.126471	0.94429	.	.	ENSG00000136928	ENST00000259455	D	0.83419	-1.72	5.78	5.78	0.91487	Extracellular ligand-binding receptor (1);	0.051064	0.85682	D	0.000000	D	0.82554	0.5062	M	0.68317	2.08	0.80722	D	1	B	0.27416	0.178	B	0.25405	0.06	T	0.80137	-0.1508	10	0.52906	T	0.07	-29.3776	17.5103	0.87758	0.0:1.0:0.0:0.0	.	230	O75899	GABR2_HUMAN	K	230	ENSP00000259455:E230K	ENSP00000259455:E230K	E	-	1	0	GABBR2	100298560	1.000000	0.71417	0.967000	0.41034	0.894000	0.52154	5.421000	0.66447	2.740000	0.93945	0.455000	0.32223	GAG		0.542	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1				9	73	0	0	0	0.008291	0	9	73		
IKBKAP	8518	broad.mit.edu	37	9	111679867	111679867	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:111679867T>C	ENST00000374647.5	-	9	1131	c.824A>G	c.(823-825)cAt>cGt	p.H275R	IKBKAP_ENST00000537196.1_5'UTR	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	275					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)	p.H275R(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAAGTGTCCATGAAGGAGTCC	0.413																																						uc004bdm.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						c.(823-825)CAT>CGT		inhibitor of kappa light polypeptide gene							150.0	152.0	151.0					9																	111679867		2203	4300	6503	SO:0001583	missense	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111679867T>C	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.824A>G	9.37:g.111679867T>C	ENSP00000363779:p.His275Arg					IKBKAP_uc004bdl.2_5'UTR|IKBKAP_uc011lwc.1_Missense_Mutation_p.H161R|IKBKAP_uc010mtq.2_5'UTR	p.H275R	NM_003640	NP_003631	O95163	ELP1_HUMAN			9	1344	-			275					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.824A>G	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.984516	0.74474	.	.	ENSG00000070061	ENST00000374647	T	0.35789	1.29	5.19	5.19	0.71726	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.61362	0.2341	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65878	-0.6061	10	0.59425	D	0.04	-17.5977	13.2885	0.60258	0.0:0.0:0.0:1.0	.	275	O95163	ELP1_HUMAN	R	275	ENSP00000363779:H275R	ENSP00000363779:H275R	H	-	2	0	IKBKAP	110719688	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.454000	0.80714	2.090000	0.63153	0.459000	0.35465	CAT		0.413	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1				20	132	0	0	0	0.007413	0	20	132		
ZNF883	169834	broad.mit.edu	37	9	115759604	115759604	+	lincRNA	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:115759604C>G	ENST00000427548.1	-	0	2209							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TATGCGTCCTCTGATGTCGAA	0.378																																						uc011lwy.1		NaN																	0					0						c.(934-936)CAG>CAC		hypothetical protein LOC169834							172.0	188.0	183.0					9																	115759604		2166	4283	6449			169834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:115759604C>G	AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115759604C>G							p.Q312H	NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN			5	2175	-			312			C2H2-type 11.			Missense_Mutation	SNP	ENST00000427548.1	37	c.936G>C																																																																																					0.378	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1		NM_001101338		81	135	0	0	0	0.01441	0	81	135		
COL27A1	85301	broad.mit.edu	37	9	116931561	116931561	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:116931561A>G	ENST00000356083.3	+	3	2117	c.1726A>G	c.(1726-1728)Agc>Ggc	p.S576G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	576	Pro-rich.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.S576G(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AACCAGGCCTAGCCCCAGACA	0.667																																						uc011lxl.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(1726-1728)AGC>GGC		collagen, type XXVII, alpha 1 precursor							69.0	86.0	80.0					9																	116931561		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116931561A>G	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1726A>G	9.37:g.116931561A>G	ENSP00000348385:p.Ser576Gly					COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.S426G	p.S576G	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			3	1726	+			576			Pro-rich.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.1726A>G	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	A	2.465	-0.323192	0.05350	.	.	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.91996	-2.63;-2.95	4.88	3.71	0.42584	.	.	.	.	.	D	0.85353	0.5677	L	0.32530	0.975	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.70945	-0.4734	9	0.22109	T	0.4	.	7.3884	0.26895	0.9008:0.0:0.0992:0.0	.	576;523	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	G	576;576;523;523	ENSP00000348385:S576G;ENSP00000391328:S523G	ENSP00000348385:S576G	S	+	1	0	COL27A1	115971382	0.026000	0.19158	0.015000	0.15790	0.008000	0.06430	0.710000	0.25748	0.858000	0.35431	0.460000	0.39030	AGC		0.667	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1		NM_032888		14	137	0	0	0	0.003163	0	14	137		
TNC	3371	broad.mit.edu	37	9	117849019	117849019	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:117849019A>C	ENST00000350763.4	-	3	1402	c.991T>G	c.(991-993)Tac>Gac	p.Y331D	TNC_ENST00000341037.4_Missense_Mutation_p.Y331D|TNC_ENST00000340094.3_Missense_Mutation_p.Y331D|TNC_ENST00000346706.3_Missense_Mutation_p.Y331D|TNC_ENST00000423613.2_Missense_Mutation_p.Y331D|TNC_ENST00000542877.1_Missense_Mutation_p.Y331D|TNC_ENST00000535648.1_Missense_Mutation_p.Y331D|TNC_ENST00000537320.1_Missense_Mutation_p.Y331D|TNC_ENST00000345230.3_Missense_Mutation_p.Y331D	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	331	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.Y331D(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCTTCGCAGTAGCAGGTGCCA	0.602																																						uc004bjj.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(991-993)TAC>GAC		tenascin C precursor							93.0	85.0	88.0					9																	117849019		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117849019A>C		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.991T>G	9.37:g.117849019A>C	ENSP00000265131:p.Tyr331Asp					TNC_uc010mvf.2_Missense_Mutation_p.Y331D	p.Y331D	NM_002160	NP_002151	P24821	TENA_HUMAN			3	1353	-			331			EGF-like 6.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.991T>G	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.602738	0.46423	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.03468	3.92;3.92;3.92;3.92;3.92;3.92;3.92;3.92;3.92	5.65	0.184	0.15086	EGF-like region, conserved site (2);	0.642656	0.17501	N	0.171992	T	0.02848	0.0085	N	0.17474	0.49	0.43137	D	0.994884	P;B	0.48640	0.913;0.262	P;B	0.44732	0.459;0.13	T	0.57688	-0.7768	10	0.87932	D	0	.	6.008	0.19557	0.6043:0.2566:0.1391:0.0	.	331;331	E9PC84;P24821	.;TENA_HUMAN	D	331	ENSP00000344400:Y331D;ENSP00000438152:Y331D;ENSP00000344555:Y331D;ENSP00000345861:Y331D;ENSP00000265131:Y331D;ENSP00000339553:Y331D;ENSP00000411406:Y331D;ENSP00000443478:Y331D;ENSP00000442242:Y331D	ENSP00000344400:Y331D	Y	-	1	0	TNC	116888840	0.219000	0.23619	0.972000	0.41901	0.637000	0.38172	0.527000	0.22987	0.137000	0.18759	0.460000	0.39030	TAC		0.602	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2		NM_002160		19	119	0	0	0	0.007413	0	19	119		
BRINP1	1620	broad.mit.edu	37	9	121930487	121930487	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:121930487C>A	ENST00000265922.3	-	8	1622	c.1161G>T	c.(1159-1161)tgG>tgT	p.W387C	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	387					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.W387C(1)									CCCTTGCAAGCCACTGCTGAA	0.517																																						uc004bkc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(1159-1161)TGG>TGT		deleted in bladder cancer 1 precursor							15.0	13.0	14.0					9																	121930487		2082	4102	6184	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121930487C>A	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1161G>T	9.37:g.121930487C>A	ENSP00000265922:p.Trp387Cys						p.W387C	NM_014618	NP_055433	O60477	DBC1_HUMAN			8	1617	-			387					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.1161G>T	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048702	0.55110	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.35605	1.3	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.61912	0.2385	M	0.72894	2.215	0.80722	D	1	D	0.69078	0.997	D	0.72338	0.977	T	0.64347	-0.6429	10	0.87932	D	0	-11.9675	19.4985	0.95083	0.0:1.0:0.0:0.0	.	387	O60477	DBC1_HUMAN	C	387	ENSP00000265922:W387C	ENSP00000265922:W387C	W	-	3	0	DBC1	120970308	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.743000	0.85020	2.607000	0.88179	0.655000	0.94253	TGG		0.517	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2		NM_014618		6	22	1	0	0.00198382	0.001984	0.00206824	6	22		
CIZ1	25792	broad.mit.edu	37	9	130928556	130928556	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:130928556G>A	ENST00000393608.1	-	17	2819	c.2617C>T	c.(2617-2619)Cag>Tag	p.Q873*	CIZ1_ENST00000538431.1_Nonsense_Mutation_p.Q899*|CIZ1_ENST00000357558.5_Nonsense_Mutation_p.Q845*|CIZ1_ENST00000476727.2_5'Flank|CIZ1_ENST00000372948.3_Nonsense_Mutation_p.Q817*|CIZ1_ENST00000372954.1_Nonsense_Mutation_p.Q793*|CIZ1_ENST00000325721.8_Nonsense_Mutation_p.Q844*|CIZ1_ENST00000372938.5_Nonsense_Mutation_p.Q873*|CIZ1_ENST00000277465.4_Nonsense_Mutation_p.Q845*|CIZ1_ENST00000541172.1_Nonsense_Mutation_p.Q772*	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	873					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.Q873*(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						GTTTTGTCCTGGGTGTTGGGC	0.662																																						uc004btt.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(2)	4						c.(2617-2619)CAG>TAG		CDKN1A interacting zinc finger protein 1 isoform							32.0	34.0	33.0					9																	130928556		2193	4289	6482	SO:0001587	stop_gained	25792					nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr9:130928556G>A	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.2617C>T	9.37:g.130928556G>A	ENSP00000377232:p.Gln873*					CIZ1_uc004btr.2_Nonsense_Mutation_p.Q845*|CIZ1_uc004bts.2_Nonsense_Mutation_p.Q844*|CIZ1_uc011maq.1_Nonsense_Mutation_p.Q812*|CIZ1_uc004btu.2_Nonsense_Mutation_p.Q793*|CIZ1_uc011mar.1_Nonsense_Mutation_p.Q772*|CIZ1_uc011mas.1_Nonsense_Mutation_p.Q929*|CIZ1_uc004btw.2_Nonsense_Mutation_p.Q817*|CIZ1_uc004btv.2_Nonsense_Mutation_p.Q873*	p.Q873*	NM_001131016	NP_001124488	Q9ULV3	CIZ1_HUMAN			17	2780	-			873					A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Nonsense_Mutation	SNP	ENST00000393608.1	37	c.2617C>T	CCDS6894.1	.	.	.	.	.	.	.	.	.	.	G	36	5.870958	0.97049	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372948;ENST00000372938;ENST00000415526	.	.	.	4.45	4.45	0.53987	.	0.000000	0.49916	D	0.000128	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-14.223	12.8966	0.58104	0.0:0.0:1.0:0.0	.	.	.	.	X	793;873;899;845;844;812;772;845;817;873;795	.	ENSP00000277465:Q845X	Q	-	1	0	CIZ1	129968377	0.997000	0.39634	0.955000	0.39395	0.347000	0.29111	3.706000	0.54830	2.768000	0.95171	0.561000	0.74099	CAG		0.662	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1		NM_012127		5	9	0	0	0	0.001984	0	5	9		
CRAT	1384	broad.mit.edu	37	9	131860642	131860642	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:131860642T>C	ENST00000318080.2	-	10	1508	c.1214A>G	c.(1213-1215)cAg>cGg	p.Q405R	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	405					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)	p.Q405R(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	ATCCAGGTCCTGGATCATGCT	0.587																																						uc004bxh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(1213-1215)CAG>CGG		carnitine acetyltransferase precursor	L-Carnitine(DB00583)						70.0	72.0	72.0					9																	131860642		2203	4300	6503	SO:0001583	missense	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131860642T>C	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.1214A>G	9.37:g.131860642T>C	ENSP00000315013:p.Gln405Arg					CRAT_uc004bxg.2_Missense_Mutation_p.Q384R|CRAT_uc004bxk.3_Missense_Mutation_p.Q384R	p.Q405R	NM_000755	NP_000746	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	10	1496	-			405					Q5T952|Q9BW16	Missense_Mutation	SNP	ENST00000318080.2	37	c.1214A>G	CCDS6919.1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.308182	0.60305	.	.	ENSG00000095321	ENST00000351352;ENST00000318080	D	0.89050	-2.46	5.13	5.13	0.70059	.	0.182328	0.49305	D	0.000152	D	0.83229	0.5209	L	0.35542	1.07	0.80722	D	1	B	0.12013	0.005	B	0.14578	0.011	T	0.78588	-0.2146	10	0.31617	T	0.26	-36.9271	14.2644	0.66107	0.0:0.0:0.0:1.0	.	405	P43155	CACP_HUMAN	R	324;405	ENSP00000315013:Q405R	ENSP00000315013:Q405R	Q	-	2	0	CRAT	130900463	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.127000	0.71642	2.154000	0.67381	0.459000	0.35465	CAG		0.587	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1				45	156	0	0	0	0.01441	0	45	156		
MED22	6837	broad.mit.edu	37	9	136211045	136211045	+	Silent	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:136211045G>C	ENST00000491289.1	-	4	929	c.348C>G	c.(346-348)ctC>ctG	p.L116L	MED22_ENST00000343730.5_Silent_p.L116L|MED22_ENST00000371999.1_Silent_p.L110L|MED22_ENST00000471524.1_5'UTR|MED22_ENST00000476080.1_Silent_p.L116L|MED22_ENST00000344469.5_Silent_p.L116L			Q15528	MED22_HUMAN	mediator complex subunit 22	116						cytoplasm (GO:0005737)|mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.L116L(2)		endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		GCAGCGTGATGAGCTTCCGGT	0.577																																						uc004cdc.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(346-348)CTC>CTG		mediator complex subunit 22 isoform b							127.0	108.0	115.0					9																	136211045		2203	4300	6503	SO:0001819	synonymous_variant	6837				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding	g.chr9:136211045G>C		CCDS6963.1, CCDS6964.1	9q34.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000148297	ENSG00000148297			11477	protein-coding gene	gene with protein product		185641	"""surfeit 5"""	SURF5		8499913, 15175163	Standard	NM_133640		Approved	Med24	uc004cdc.3	Q15528	OTTHUMG00000020869	ENST00000491289.1:c.348C>G	9.37:g.136211045G>C						MED22_uc004cdd.2_Silent_p.L116L	p.L116L	NM_133640	NP_598395	Q15528	MED22_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)	4	582	-			116			Potential.		B3KW83|B3KWX4|O76072|Q5T8U0	Silent	SNP	ENST00000491289.1	37	c.348C>G	CCDS6963.1																																																																																				0.577	MED22-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054898.2		NM_133640		46	75	0	0	0	0.013114	0	46	75		
CCDC183	84960	broad.mit.edu	37	9	139702037	139702037	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:139702037C>T	ENST00000338005.6	+	14	1535	c.1500C>T	c.(1498-1500)ttC>ttT	p.F500F	RABL6_ENST00000357466.2_5'Flank|RABL6_ENST00000371671.4_5'Flank|RABL6_ENST00000371663.4_5'Flank|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000311502.7_5'Flank|RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		500								p.F500F(1)		biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCTTCCAGTTCCCCGACATGG	0.687																																						uc004cjf.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1498-1500)TTC>TTT		hypothetical protein LOC84960							18.0	21.0	20.0					9																	139702037		1997	4161	6158	SO:0001819	synonymous_variant	84960							g.chr9:139702037C>T																												ENST00000338005.6:c.1500C>T	9.37:g.139702037C>T						C9orf86_uc004cjm.2_5'Flank|C9orf86_uc004cjh.2_5'Flank|C9orf86_uc004cjj.1_5'Flank|C9orf86_uc004cjk.1_5'Flank|C9orf86_uc004cji.1_5'Flank|C9orf86_uc010nbr.1_5'Flank|LOC100131193_uc004cjg.1_Intron	p.F500F	NM_001039374	NP_001034463	Q5T5S1	K1984_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)	14	1548	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	500					B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Silent	SNP	ENST00000338005.6	37	c.1500C>T	CCDS43906.1																																																																																				0.687	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1				6	8	0	0	0	0.001168	0	6	8		
NDOR1	27158	broad.mit.edu	37	9	140109624	140109624	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:140109624G>A	ENST00000344894.5	+	9	1226	c.1143G>A	c.(1141-1143)ccG>ccA	p.P381P	NDOR1_ENST00000427047.2_Silent_p.P347P|NDOR1_ENST00000371521.4_Silent_p.P381P|NDOR1_ENST00000458322.2_Silent_p.P381P	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1									p.P381P(1)		breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TTATCCGGCCGAGGGCCTTCT	0.647																																						uc004clw.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1141-1143)CCG>CCA		NADPH dependent diflavin oxidoreductase 1							64.0	54.0	58.0					9																	140109624		2201	4300	6501	SO:0001819	synonymous_variant	27158				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding	g.chr9:140109624G>A	BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"""NADPH dependent FMN and FAD containing oxidoreductase"""	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.1143G>A	9.37:g.140109624G>A						NDOR1_uc004clx.2_Silent_p.P381P|NDOR1_uc011mes.1_Silent_p.P381P|NDOR1_uc004cly.2_Silent_p.P347P	p.P381P	NM_014434	NP_055249	Q9UHB4	NDOR1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	9	1254	+	all_cancers(76;0.0926)		381			FAD-binding FR-type.|FAD (By similarity).			Silent	SNP	ENST00000344894.5	37	c.1143G>A	CCDS7036.1																																																																																				0.647	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1		NM_014434		23	25	0	0	0	0.016522	0	23	25		
EHMT1	79813	broad.mit.edu	37	9	140707963	140707963	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:140707963G>A	ENST00000460843.1	+	21	3188	c.3161G>A	c.(3160-3162)aGa>aAa	p.R1054K		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1054					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.R1054K(1)|p.R1023K(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AACATCGACAGAAATATCACT	0.572																																						uc011mfc.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	breast(2)|pancreas(1)	3						c.(3160-3162)AGA>AAA		euchromatic histone-lysine N-methyltransferase 1							114.0	80.0	91.0					9																	140707963		2203	4300	6503	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140707963G>A	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3161G>A	9.37:g.140707963G>A	ENSP00000417980:p.Arg1054Lys					EHMT1_uc004coe.2_5'Flank	p.R1054K	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	21	3198	+	all_cancers(76;0.164)		1054					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.3161G>A	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578292	0.65878	.	.	ENSG00000181090	ENST00000371400;ENST00000460843	T	0.76060	-0.99	5.06	5.06	0.68205	Pre-SET zinc-binding sub-group (1);Pre-SET domain (1);	0.086898	0.85682	D	0.000000	T	0.71762	0.3378	N	0.20766	0.605	0.80722	D	1	B	0.33694	0.421	P	0.45099	0.469	T	0.73883	-0.3842	10	0.52906	T	0.07	.	18.431	0.90625	0.0:0.0:1.0:0.0	.	1054	Q9H9B1	EHMT1_HUMAN	K	1023;1054	ENSP00000417980:R1054K	ENSP00000360453:R1023K	R	+	2	0	EHMT1	139827784	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	5.276000	0.65580	2.327000	0.79052	0.655000	0.94253	AGA		0.572	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2		NM_024757		17	33	0	0	0	0.007413	0	17	33		
DCAF8L1	139425	broad.mit.edu	37	X	27999131	27999131	+	Missense_Mutation	SNP	C	C	T	rs148567837	byFrequency	TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chrX:27999131C>T	ENST00000441525.1	-	1	435	c.321G>A	c.(319-321)atG>atA	p.M107I		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	107	Glu-rich.							p.M107I(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						cttcctcctccatctcttctt	0.517																																						uc004dbx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(319-321)ATG>ATA		DDB1 and CUL4 associated factor 8-like 1		C	ILE/MET	0,3833		0,0,0,1631,571	162.0	93.0	117.0		321	0.6	0.0	X	dbSNP_134	117	10,6718		0,9,1,2419,1871	yes	missense	DCAF8L1	NM_001017930.1	10	0,9,1,4050,2442	TT,TC,T,CC,C		0.1486,0.0,0.0947	benign	107/601	27999131	10,10551	2202	4300	6502	SO:0001583	missense	139425							g.chrX:27999131C>T		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.321G>A	X.37:g.27999131C>T	ENSP00000405222:p.Met107Ile						p.M107I	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			1	436	-			107			Glu-rich.		B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.321G>A	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867062	0.32977	0.0	0.001486	ENSG00000226372	ENST00000441525	T	0.62498	0.02	0.588	0.588	0.17445	.	1.197550	0.06557	N	0.746003	T	0.40570	0.1122	N	0.08118	0	0.21020	N	0.999803	B	0.14805	0.011	B	0.12156	0.007	T	0.32079	-0.9920	10	0.46703	T	0.11	0.9413	6.7759	0.23619	0.0:0.9998:0.0:2.0E-4	.	107	A6NGE4	DC8L1_HUMAN	I	107	ENSP00000405222:M107I	ENSP00000405222:M107I	M	-	3	0	DCAF8L1	27909052	0.001000	0.12720	0.016000	0.15963	0.617000	0.37484	-3.440000	0.00470	0.527000	0.28560	0.179000	0.17066	ATG		0.517	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2		XM_066690		22	44	0	0	0	0.010504	0	22	44		
FGD1	2245	broad.mit.edu	37	X	54496454	54496454	+	Missense_Mutation	SNP	C	C	A	rs140078362		TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chrX:54496454C>A	ENST00000375135.3	-	4	1829	c.1096G>T	c.(1096-1098)Gtg>Ttg	p.V366L		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	366					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.V366L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGTACCTCCACAGACTCCTGT	0.542																																						uc004dtg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1096-1098)GTG>TTG		faciogenital dysplasia protein							45.0	43.0	44.0					X																	54496454		2203	4300	6503	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54496454C>A	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.1096G>T	X.37:g.54496454C>A	ENSP00000364277:p.Val366Leu					FGD1_uc011moi.1_Missense_Mutation_p.V124L	p.V366L	NM_004463	NP_004454	P98174	FGD1_HUMAN			4	1830	-			366					Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.1096G>T	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725657	0.30593	.	.	ENSG00000102302	ENST00000375135	T	0.63417	-0.04	5.88	2.88	0.33553	Dbl homology (DH) domain (2);	0.450101	0.18950	N	0.126708	T	0.43787	0.1263	L	0.27053	0.805	0.27468	N	0.952957	B;B	0.15930	0.005;0.015	B;B	0.08055	0.003;0.003	T	0.25047	-1.0143	10	0.27785	T	0.31	-8.6779	7.3522	0.26697	0.1468:0.6835:0.0:0.1697	.	124;366	B4DS99;P98174	.;FGD1_HUMAN	L	366	ENSP00000364277:V366L	ENSP00000364277:V366L	V	-	1	0	FGD1	54513179	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	1.198000	0.32223	0.643000	0.30638	-0.344000	0.07964	GTG		0.542	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1		NM_004463		18	4	1	0	1.15919e-05	0.008871	1.24835e-05	18	4		
SATL1	340562	broad.mit.edu	37	X	84363234	84363234	+	Silent	SNP	G	G	A	rs111730253	byFrequency	TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chrX:84363234G>A	ENST00000395409.3	-	1	740	c.180C>T	c.(178-180)gaC>gaT	p.D60D	SATL1_ENST00000509231.1_Silent_p.D247D|SATL1_ENST00000332921.5_Silent_p.D60D			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	60	Gln-rich.						N-acetyltransferase activity (GO:0008080)	p.D247D(1)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						ATTGGTTTGCGTCTGGTTGGC	0.473													-|||	3	0.000794702	0.0023	0.0	3775	,	,		18485	0.0		0.0	False		,,,				2504	0.0					uc011mqx.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(2)	2						c.(739-741)GAC>GAT		spermidine/spermine N1-acetyl transferase-like 1				7,3828		0,6,1,1626,570	378.0	287.0	318.0		741	-4.2	0.0	X	dbSNP_132	318	0,6728		0,0,0,2428,1872	no	coding-synonymous	SATL1	NM_001012980.2		0,6,1,4054,2442	AA,AG,A,GG,G		0.0,0.1825,0.0663		247/633	84363234	7,10556	2203	4300	6503	SO:0001819	synonymous_variant	340562						N-acetyltransferase activity	g.chrX:84363234G>A	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.180C>T	X.37:g.84363234G>A						SATL1_uc004een.2_Silent_p.D247D	p.D247D	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN			1	741	-			60			Gln-rich.		A0AVK7|E9PB72|Q5H8V9	Silent	SNP	ENST00000395409.3	37	c.741C>T																																																																																					0.473	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			XM_291339		43	97	0	0	0	0.009718	0	43	97		
DCAF12L1	139170	broad.mit.edu	37	X	125686549	125686549	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chrX:125686549C>T	ENST00000371126.1	-	1	285	c.43G>A	c.(43-45)Gcg>Acg	p.A15T		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	15								p.A15T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCCTCGACCGCGGGCGCTTTC	0.726																																						uc004eul.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|ovary(1)	4						c.(43-45)GCG>ACG		DDB1 and CUL4 associated factor 12-like 1							17.0	22.0	20.0					X																	125686549		2100	4094	6194	SO:0001583	missense	139170							g.chrX:125686549C>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.43G>A	X.37:g.125686549C>T	ENSP00000360167:p.Ala15Thr						p.A15T	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	294	-			15					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.43G>A	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.200296	0.38905	.	.	ENSG00000198889	ENST00000371126	T	0.18657	2.2	3.15	2.28	0.28536	.	.	.	.	.	T	0.15089	0.0364	L	0.51422	1.61	0.09310	N	1	P	0.43352	0.804	B	0.33454	0.164	T	0.16541	-1.0399	9	0.52906	T	0.07	.	5.5341	0.17001	0.0:0.841:0.0:0.159	.	15	Q5VU92	DC121_HUMAN	T	15	ENSP00000360167:A15T	ENSP00000360167:A15T	A	-	1	0	DCAF12L1	125514230	0.000000	0.05858	0.003000	0.11579	0.067000	0.16453	0.077000	0.14738	0.717000	0.32145	0.506000	0.49869	GCG		0.726	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1		NM_178470		6	26	0	0	0	0.001168	0	6	26		
ARID1A	8289	broad.mit.edu	37	1	27099309	27099309	+	Frame_Shift_Del	DEL	C	C	-	rs138311127		TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:27099309delC	ENST00000324856.7	+	14	3917	c.3546delC	c.(3544-3546)agcfs	p.S1182fs	ARID1A_ENST00000540690.1_5'Flank|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S1182fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S799fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1182					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGAGCAGGAGCAATTCAGTTG	0.478			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(3544-3546)AGCfs		AT rich interactive domain 1A isoform a							80.0	73.0	75.0					1																	27099309		2203	4300	6503	SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27099309delC	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3546delC	1.37:g.27099309delC	ENSP00000320485:p.Ser1182fs					ARID1A_uc001bmt.1_Frame_Shift_Del_p.S1181fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.S1182fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.S799fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.S28fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	p.S1182fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	14	3919	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1182					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.3546delC	CCDS285.1																																																																																				0.478	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		29	43	NaN	NaN	NaN	NaN	NaN	29	43	---	---
PEAR1	375033	broad.mit.edu	37	1	156884482	156884483	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:156884482_156884483insC	ENST00000338302.3	+	24	3231_3232	c.3006_3007insC	c.(3007-3009)cccfs	p.P1003fs	PEAR1_ENST00000292357.7_Frame_Shift_Ins_p.P1003fs			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	1003	Pro-rich.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTCCGGGCCTACCCCCCGGCCA	0.609																																						uc001fqj.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(3004-3009)CTACCCfs		platelet endothelial aggregation receptor 1																																				SO:0001589	frameshift_variant	375033					integral to membrane		g.chr1:156884482_156884483insC	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.3012dupC	1.37:g.156884488_156884488dupC	ENSP00000344465:p.Pro1003fs					PEAR1_uc001fqk.1_Frame_Shift_Ins_p.L627fs	p.L1002fs	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN			23	3122_3123	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		1002_1003			Pro-rich.		Q8TEK2	Frame_Shift_Ins	INS	ENST00000338302.3	37	c.3006_3007insC	CCDS30892.1																																																																																				0.609	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2		NM_001080471		17	139	NaN	NaN	NaN	NaN	NaN	17	139	---	---
C16orf70	80262	broad.mit.edu	37	16	67184256	67184256	+	IGR	DEL	C	C	-			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr16:67184256delC	ENST00000219139.3	+	0	2865				B3GNT9_ENST00000449549.3_Frame_Shift_Del_p.A46fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70											cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CTCGGTGCCGCCCTCCCTCGC	0.766																																						uc002erf.2		NaN																	0					0						c.(133-135)GCGfs		UDP-GlcNAc:betaGal							3.0	4.0	4.0					16																	67184256		1600	3591	5191	SO:0001628	intergenic_variant	84752				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr16:67184256delC	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510		16.37:g.67184256delC						uc002erg.1_3'UTR	p.A45fs	NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN			2	454	-			45			Lumenal (Potential).		Q9HA86	Frame_Shift_Del	DEL	ENST00000219139.3	37	c.133delG	CCDS10828.1																																																																																				0.766	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2		NM_025187		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
LRFN3	79414	broad.mit.edu	37	19	36431511	36431517	+	Frame_Shift_Del	DEL	CCAGCTG	CCAGCTG	-			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr19:36431511_36431517delCCAGCTG	ENST00000588831.1	+	3	2238_2244	c.1184_1190delCCAGCTG	c.(1183-1191)accagctgtfs	p.TSC395fs	LRFN3_ENST00000246529.3_Frame_Shift_Del_p.TSC395fs			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	395					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCAACAGCACCAGCTGTGACCCCCCG	0.671																																						uc002oco.2		NaN																	0					0						c.(1183-1191)ACCAGCTGTfs		leucine rich repeat and fibronectin type III																																				SO:0001589	frameshift_variant	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36431511_36431517delCCAGCTG	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.1184_1190delCCAGCTG	19.37:g.36431511_36431517delCCAGCTG	ENSP00000466989:p.Thr395fs						p.T395fs	NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		2	1636_1642	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		395_397			Extracellular (Potential).		Q6UY10	Frame_Shift_Del	DEL	ENST00000588831.1	37	c.1184_1190delCCAGCTG	CCDS12483.1																																																																																				0.671	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2		NM_024509		36	68	NaN	NaN	NaN	NaN	NaN	36	68	---	---
FIGN	55137	broad.mit.edu	37	2	164467360	164467361	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:164467360_164467361insA	ENST00000333129.3	-	3	1295_1296	c.981_982insT	c.(979-984)ggagatfs	p.D328fs	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	328					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GAGTCCATATCTCCTTGCCCTG	0.465																																						uc002uck.1		NaN																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(979-984)GGAGATfs		fidgetin																																				SO:0001589	frameshift_variant	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467360_164467361insA	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.981_982insT	2.37:g.164467360_164467361insA	ENSP00000333836:p.Asp328fs						p.G327fs	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	1292_1293	-			327_328					B3KWM0|Q9H6M5|Q9NVZ9	Frame_Shift_Ins	INS	ENST00000333129.3	37	c.981_982insT	CCDS2221.2																																																																																				0.465	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2		NM_018086		80	89	NaN	NaN	NaN	NaN	NaN	80	89	---	---
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr20:56099187delT	ENST00000608263.1	-	1	736	c.75delA	c.(73-75)aaafs	p.K25fs	CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608440.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000608158.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000608425.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000481655.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000609232.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502																																						uc010gix.1		NaN																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(73-75)AAAfs		CCCTC-binding factor-like protein							231.0	258.0	249.0					20																	56099187		2203	4300	6503	SO:0001589	frameshift_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099187delT		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.75delA	20.37:g.56099187delT	ENSP00000476783:p.Lys25fs					CTCFL_uc010giw.1_Frame_Shift_Del_p.K25fs|CTCFL_uc002xym.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjb.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjc.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjd.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gje.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjk.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjl.1_Frame_Shift_Del_p.K25fs	p.K25fs	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	737	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		25					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Frame_Shift_Del	DEL	ENST00000608263.1	37	c.75delA	CCDS13459.1																																																																																				0.502	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1		NM_080618		7	723	NaN	NaN	NaN	NaN	NaN	7	723	---	---
CCR3	1232	broad.mit.edu	37	3	46306948	46306948	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:46306948delT	ENST00000357422.2	+	4	842	c.299delT	c.(298-300)gttfs	p.V100fs	CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs|CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	100					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CATAACTGGGTTTTTGGCCAT	0.488																																						uc003cpg.1		NaN																	0				ovary(3)|lung(3)|breast(1)|kidney(1)	8						c.(298-300)GTTfs		CC chemokine receptor 3 isoform 1							181.0	175.0	177.0					3																	46306948		2203	4300	6503	SO:0001589	frameshift_variant	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46306948delT	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.299delT	3.37:g.46306948delT	ENSP00000350003:p.Val100fs					CCR3_uc003cpi.1_Frame_Shift_Del_p.V100fs|CCR3_uc003cpj.1_Frame_Shift_Del_p.V100fs|CCR3_uc003cpk.1_Frame_Shift_Del_p.V121fs|CCR3_uc010hjb.1_Frame_Shift_Del_p.V118fs|CCR3_uc003cpl.1_Frame_Shift_Del_p.V133fs	p.V100fs	NM_178329	NP_847899	P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	842	+			100			Extracellular (Potential).		B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Frame_Shift_Del	DEL	ENST00000357422.2	37	c.299delT	CCDS2738.1																																																																																				0.488	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2				9	2458	NaN	NaN	NaN	NaN	NaN	9	2458	---	---
SLMAP	7871	broad.mit.edu	37	3	57893702	57893702	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:57893702delA	ENST00000428312.1	+	16	1636	c.1542delA	c.(1540-1542)agafs	p.R514fs	SLMAP_ENST00000416870.1_Intron|SLMAP_ENST00000295952.3_Frame_Shift_Del_p.R497fs|SLMAP_ENST00000472546.1_Intron|SLMAP_ENST00000495364.1_Frame_Shift_Del_p.R48fs|SLMAP_ENST00000442599.2_Intron|SLMAP_ENST00000494088.1_Intron|SLMAP_ENST00000295951.3_Frame_Shift_Del_p.R497fs|SLMAP_ENST00000449503.2_Frame_Shift_Del_p.R476fs			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	514					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AGCTAGCTAGAACAAGTAAAC	0.423																																						uc003dje.1		NaN																	0					0						c.(1540-1542)AGAfs		sarcolemma associated protein							96.0	86.0	90.0					3																	57893702		2203	4300	6503	SO:0001589	frameshift_variant	7871				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	g.chr3:57893702delA	AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.1542delA	3.37:g.57893702delA	ENSP00000398661:p.Arg514fs					SLMAP_uc003djd.1_Frame_Shift_Del_p.R497fs|SLMAP_uc003djf.1_Frame_Shift_Del_p.R476fs|SLMAP_uc003djg.1_Frame_Shift_Del_p.R108fs|SLMAP_uc011bez.1_Intron|SLMAP_uc011bfa.1_Frame_Shift_Del_p.R48fs|SLMAP_uc003djh.2_Intron|SLMAP_uc003dji.1_Frame_Shift_Del_p.R48fs|SLMAP_uc011bfb.1_Frame_Shift_Del_p.R48fs|SLMAP_uc011bfc.1_Intron	p.R514fs	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)	16	1747	+			514			Cytoplasmic (Potential).|Potential.		Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Frame_Shift_Del	DEL	ENST00000428312.1	37	c.1542delA																																																																																					0.423	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1		NM_007159		9	72	NaN	NaN	NaN	NaN	NaN	9	72	---	---
PDZRN3	23024	broad.mit.edu	37	3	73433413	73433414	+	Frame_Shift_Ins	INS	-	-	G	rs376105538		TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:73433413_73433414insG	ENST00000263666.4	-	10	2417_2418	c.2303_2304insC	c.(2302-2304)ccgfs	p.P768fs	PDZRN3_ENST00000479530.1_Frame_Shift_Ins_p.P485fs|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000462146.2_Frame_Shift_Ins_p.P425fs|PDZRN3_ENST00000466780.1_Frame_Shift_Ins_p.P425fs|PDZRN3_ENST00000535920.1_Frame_Shift_Ins_p.P490fs	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	768					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCAGGGTGAGCGGGGTGCTGCG	0.649																																						uc003dpl.1		NaN																	0				pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(2302-2304)CCGfs		PDZ domain containing ring finger 3																																				SO:0001589	frameshift_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433413_73433414insG	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2304dupC	3.37:g.73433417_73433417dupG	ENSP00000263666:p.Pro768fs					PDZRN3_uc011bgh.1_Frame_Shift_Ins_p.P425fs|PDZRN3_uc010hoe.1_Frame_Shift_Ins_p.P466fs|PDZRN3_uc011bgf.1_Frame_Shift_Ins_p.P485fs|PDZRN3_uc011bgg.1_Frame_Shift_Ins_p.P488fs	p.P768fs	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2399_2400	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	768					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Frame_Shift_Ins	INS	ENST00000263666.4	37	c.2303_2304insC	CCDS33789.1																																																																																				0.649	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1		XM_041363		12	52	NaN	NaN	NaN	NaN	NaN	12	52	---	---
GOLGB1	2804	broad.mit.edu	37	3	121409850	121409851	+	Frame_Shift_Ins	INS	-	-	TC	rs543785967	byFrequency	TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:121409850_121409851insTC	ENST00000340645.5	-	14	8470_8471	c.8345_8346insGA	c.(8344-8346)gatfs	p.D2782fs	GOLGB1_ENST00000393667.3_Frame_Shift_Ins_p.D2787fs	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2782					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AAAGAAGAGCATCTCTCTCTCT	0.426																																						uc003eei.3		NaN																	0				ovary(6)|breast(2)|skin(2)	10						c.(8344-8346)GATfs		golgi autoantigen, golgin subfamily b,																																				SO:0001589	frameshift_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121409850_121409851insTC	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8344_8345dupGA	3.37:g.121409859_121409860dupTC	ENSP00000341848:p.Asp2782fs					GOLGB1_uc010hrc.2_Frame_Shift_Ins_p.D2787fs|GOLGB1_uc003eej.3_Frame_Shift_Ins_p.D2748fs	p.D2782fs	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	8471_8472	-			2782			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Frame_Shift_Ins	INS	ENST00000340645.5	37	c.8345_8346insGA	CCDS3004.1																																																																																				0.426	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1		NM_004487		33	125	NaN	NaN	NaN	NaN	NaN	33	125	---	---
VPS13B	157680	broad.mit.edu	37	8	100847965	100847973	+	Splice_Site	DEL	AGGTCAGTG	AGGTCAGTG	-	rs528134335|rs558911841		TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr8:100847965_100847973delAGGTCAGTG	ENST00000358544.2	+	54	10127_10128	c.10016_10017delAGGTCAGTG	c.(10015-10017)cag>c	p.Q3339del	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Splice_Site_p.Q3314del	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3339					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAGGGAACACAGGTCAGTGAGCCATGTGT	0.402																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NaN																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.e54+1		vacuolar protein sorting 13B isoform 5																																				SO:0001630	splice_region_variant	157680				protein transport			g.chr8:100847965_100847973delAGGTCAGTG	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10017+1AGGTCAGTG>-	8.37:g.100847965_100847973delAGGTCAGTG						VPS13B_uc003yiw.2_Splice_Site_p.Q3314_splice	p.Q3339_splice	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		54	10128	+	Breast(36;3.73e-07)							C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Splice_Site	DEL	ENST00000358544.2	37	c.10017_splice	CCDS6280.1																																																																																				0.402	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1		NM_184042	In_Frame_Del	26	112	NaN	NaN	NaN	NaN	NaN	26	112	---	---
