#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
SZT2	23334	broad.mit.edu	37	1	43893772	43893772	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr1:43893772A>G	ENST00000562955.1	+	26	3731	c.3731A>G	c.(3730-3732)cAg>cGg	p.Q1244R	SZT2_ENST00000372442.1_Missense_Mutation_p.Q402R	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1301					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GAGCATGCACAGCGGTGCTAT	0.637																																						uc001cjk.1		NaN																	0					0						c.(1204-1206)CAG>CGG		hypothetical protein LOC23334							74.0	68.0	70.0					1																	43893772		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43893772A>G	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.3731A>G	1.37:g.43893772A>G	ENSP00000457168:p.Gln1244Arg						p.Q402R	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			12	1667	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	1301					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.1205A>G	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	A	12.80	2.048015	0.36085	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.18	5.18	0.71444	.	0.068386	0.64402	D	0.000010	T	0.35068	0.0919	L	0.29908	0.895	0.27671	N	0.946764	P	0.43352	0.804	B	0.43301	0.415	T	0.17379	-1.0371	9	0.22109	T	0.4	.	15.0634	0.71973	1.0:0.0:0.0:0.0	.	1244	Q5T011-5	.	R	402	.	ENSP00000361519:Q402R	Q	+	2	0	SZT2	43666359	1.000000	0.71417	0.997000	0.53966	0.931000	0.56810	8.235000	0.89803	1.961000	0.56991	0.533000	0.62120	CAG		0.637	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3		NM_015284		34	69	0	0	0	0.019004	0	34	69		
KANK4	163782	broad.mit.edu	37	1	62740332	62740332	+	Silent	SNP	G	G	A	rs567649436		TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr1:62740332G>A	ENST00000371153.4	-	3	822	c.444C>T	c.(442-444)gcC>gcT	p.A148A	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	148						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						AAGTGAGCTCGGCATCCTCTG	0.627																																						uc001dah.3		NaN																	0				ovary(3)|skin(2)|lung(1)	6						c.(442-444)GCC>GCT		ankyrin repeat domain 38							32.0	38.0	36.0					1																	62740332		2202	4300	6502	SO:0001819	synonymous_variant	163782							g.chr1:62740332G>A	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.444C>T	1.37:g.62740332G>A						KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	p.A148A	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN			3	821	-			148					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	ENST00000371153.4	37	c.444C>T	CCDS620.1																																																																																				0.627	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1		NM_181712		21	47	0	0	0	0.012319	0	21	47		
LEPR	3953	broad.mit.edu	37	1	66075760	66075760	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr1:66075760C>A	ENST00000349533.6	+	13	2068	c.1883C>A	c.(1882-1884)cCa>cAa	p.P628Q	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371060.3_Missense_Mutation_p.P628Q|LEPR_ENST00000371059.3_Missense_Mutation_p.P628Q|LEPR_ENST00000344610.8_Missense_Mutation_p.P628Q|LEPR_ENST00000371058.1_Missense_Mutation_p.P628Q|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGGAGCAATCCAGCCTACACA	0.423																																						uc001dci.2		NaN																	0				skin(1)	1						c.(1882-1884)CCA>CAA		leptin receptor isoform 1							136.0	128.0	130.0					1																	66075760		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66075760C>A	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.1883C>A	1.37:g.66075760C>A	ENSP00000330393:p.Pro628Gln					LEPR_uc001dcg.2_Missense_Mutation_p.P628Q|LEPR_uc001dch.2_Missense_Mutation_p.P628Q|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.P628Q|LEPR_uc001dck.2_Missense_Mutation_p.P628Q	p.P628Q	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	13	2085	+			628			Extracellular (Potential).|Fibronectin type-III 2.		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.1883C>A	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106750	0.77096	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.28	5.28	0.74379	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.406912	0.28694	N	0.014457	T	0.66848	0.2831	M	0.88979	2.995	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.974;0.995;1.0	T	0.73069	-0.4099	10	0.59425	D	0.04	-8.6673	18.909	0.92475	0.0:1.0:0.0:0.0	.	628;628;628	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	Q	628	ENSP00000340884:P628Q;ENSP00000330393:P628Q;ENSP00000360099:P628Q;ENSP00000360098:P628Q;ENSP00000360097:P628Q	ENSP00000340884:P628Q	P	+	2	0	LEPR	65848348	0.258000	0.24033	0.780000	0.31762	0.714000	0.41099	4.024000	0.57218	2.454000	0.82982	0.650000	0.86243	CCA		0.423	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1		NM_002303		60	71	1	0	4.88506e-25	0.01441	5.47362e-25	60	71		
IGSF9	57549	broad.mit.edu	37	1	159898436	159898436	+	Silent	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr1:159898436G>A	ENST00000368094.1	-	19	2939	c.2742C>T	c.(2740-2742)ccC>ccT	p.P914P	TAGLN2_ENST00000368097.4_5'Flank|IGSF9_ENST00000361509.3_Silent_p.P898P|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	914	Pro-rich.		P -> L (in dbSNP:rs35574000).		dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GCAAGGGACTGGGTGGGGCTG	0.652																																						uc001fur.2		NaN																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)	5						c.(2740-2742)CCC>CCT		immunoglobulin superfamily, member 9 isoform a							9.0	9.0	9.0					1																	159898436		2189	4271	6460	SO:0001819	synonymous_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159898436G>A	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.2742C>T	1.37:g.159898436G>A						IGSF9_uc001fuq.2_Silent_p.P898P|IGSF9_uc001fup.2_Silent_p.P60P	p.P914P	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		19	2940	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	914			Pro-rich.|Cytoplasmic (Potential).			Silent	SNP	ENST00000368094.1	37	c.2742C>T	CCDS44254.1																																																																																				0.652	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1		NM_020789		5	9	0	0	0	0.014758	0	5	9		
NCF2	4688	broad.mit.edu	37	1	183559371	183559371	+	Missense_Mutation	SNP	C	C	T	rs201869337		TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr1:183559371C>T	ENST00000367535.3	-	1	345	c.94G>A	c.(94-96)Gtc>Atc	p.V32I	NCF2_ENST00000367536.1_Missense_Mutation_p.V32I|NCF2_ENST00000418089.1_Missense_Mutation_p.V32I|NCF2_ENST00000413720.1_Missense_Mutation_p.V32I	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	32					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	GGGTCCTGGACGGCACTGAAG	0.557																																						uc001gqj.3		NaN																	0				ovary(3)	3						c.(94-96)GTC>ATC		neutrophil cytosolic factor 2		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	130.0	129.0	129.0		94,94,94,94	4.1	0.6	1		129	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	NCF2	NM_000433.3,NM_001127651.2,NM_001190789.1,NM_001190794.1	29,29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign,benign	32/527,32/527,32/446,32/482	183559371	2,13004	2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183559371C>T	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.94G>A	1.37:g.183559371C>T	ENSP00000356505:p.Val32Ile					NCF2_uc010pod.1_Missense_Mutation_p.V32I|NCF2_uc010poe.1_Missense_Mutation_p.V32I|NCF2_uc001gqk.3_Missense_Mutation_p.V32I	p.V32I	NM_000433	NP_000424	P19878	NCF2_HUMAN			1	369	-			32					B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.94G>A	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	C	2.130	-0.399281	0.04865	0.0	2.33E-4	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	4.97	4.06	0.47325	Tetratricopeptide-like helical (1);	0.112528	0.64402	N	0.000009	T	0.51856	0.1699	N	0.17872	0.535	0.23101	N	0.99829	B;B;B	0.20988	0.009;0.05;0.004	B;B;B	0.14023	0.002;0.01;0.002	T	0.35724	-0.9777	10	0.02654	T	1	-12.2486	8.8045	0.34929	0.0:0.8257:0.0:0.1743	.	32;32;32	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	I	32;60;32;32;32	ENSP00000356506:V32I;ENSP00000399294:V32I;ENSP00000407217:V32I;ENSP00000356505:V32I	ENSP00000356505:V32I	V	-	1	0	NCF2	181825994	0.971000	0.33674	0.634000	0.29324	0.722000	0.41435	2.272000	0.43373	1.097000	0.41459	0.462000	0.41574	GTC		0.557	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1		NM_000433		98	132	0	0	0	0.01441	0	98	132		
TMEM63A	9725	broad.mit.edu	37	1	226044658	226044658	+	Silent	SNP	G	G	A	rs377208935		TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr1:226044658G>A	ENST00000366835.3	-	16	1707	c.1437C>T	c.(1435-1437)ctC>ctT	p.L479L	TMEM63A_ENST00000474478.1_5'Flank	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	479					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CAATGGAGGGGAGCAGGGCCG	0.597																																						uc001hpm.1		NaN																	0				ovary(1)|breast(1)	2						c.(1435-1437)CTC>CTT		transmembrane protein 63A							54.0	60.0	58.0					1																	226044658		2203	4300	6503	SO:0001819	synonymous_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226044658G>A		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1437C>T	1.37:g.226044658G>A							p.L479L	NM_014698	NP_055513	O94886	TM63A_HUMAN			16	1687	-	Breast(184;0.197)		479			Helical; (Potential).		Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	c.1437C>T	CCDS31042.1																																																																																				0.597	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2		NM_014698		18	29	0	0	0	0.016522	0	18	29		
KIF26B	55083	broad.mit.edu	37	1	245582982	245582982	+	Silent	SNP	G	G	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr1:245582982G>T	ENST00000407071.2	+	4	1541	c.1101G>T	c.(1099-1101)tcG>tcT	p.S367S		NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	367					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCCCAGCCTCGCAGGGCTCCT	0.587																																						uc001ibf.1		NaN																	0				ovary(3)	3						c.(1099-1101)TCG>TCT		kinesin family member 26B							80.0	84.0	82.0					1																	245582982		1990	4157	6147	SO:0001819	synonymous_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245582982G>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1101G>T	1.37:g.245582982G>T						KIF26B_uc010pyq.1_Silent_p.S367S	p.S367S	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		4	1541	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		367					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	c.1101G>T	CCDS44342.1																																																																																				0.587	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1		XM_371354		34	94	1	0	1.36615e-20	0.013726	1.51252e-20	34	94		
ARHGAP22	58504	broad.mit.edu	37	10	49658321	49658321	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr10:49658321G>C	ENST00000249601.4	-	9	2147	c.1851C>G	c.(1849-1851)taC>taG	p.Y617*	ARHGAP22_ENST00000417912.2_Nonsense_Mutation_p.Y633*|ARHGAP22_ENST00000374172.1_Nonsense_Mutation_p.Y508*|ARHGAP22_ENST00000435790.2_Nonsense_Mutation_p.Y623*|ARHGAP22_ENST00000477708.2_Nonsense_Mutation_p.Y450*|ARHGAP22_ENST00000374170.1_Nonsense_Mutation_p.Y458*|ARHGAP22_ENST00000417247.2_Nonsense_Mutation_p.Y527*	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	617					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACTCCTCTCGTACTCAGTCC	0.687																																						uc001jgt.2		NaN																	0				ovary(1)	1						c.(1849-1851)TAC>TAG		Rho GTPase activating protein 2							29.0	21.0	24.0					10																	49658321		2180	4258	6438	SO:0001587	stop_gained	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49658321G>C	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.1851C>G	10.37:g.49658321G>C	ENSP00000249601:p.Tyr617*					ARHGAP22_uc001jgs.2_Nonsense_Mutation_p.Y527*|ARHGAP22_uc001jgu.2_Nonsense_Mutation_p.Y633*|ARHGAP22_uc010qgl.1_Nonsense_Mutation_p.Y574*|ARHGAP22_uc010qgm.1_Nonsense_Mutation_p.Y623*|ARHGAP22_uc001jgv.2_Nonsense_Mutation_p.Y315*|ARHGAP22_uc001jgr.2_Nonsense_Mutation_p.Y334*	p.Y617*	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN			9	2148	-			617			Potential.		A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Nonsense_Mutation	SNP	ENST00000249601.4	37	c.1851C>G	CCDS7227.1	.	.	.	.	.	.	.	.	.	.	G	37	6.487218	0.97607	.	.	ENSG00000128805	ENST00000249601;ENST00000374172;ENST00000374170;ENST00000477708;ENST00000417247;ENST00000435790;ENST00000417912	.	.	.	5.34	-2.19	0.07015	.	0.269234	0.38217	N	0.001766	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7602	0.57359	0.6245:0.0:0.3755:0.0	.	.	.	.	X	617;508;458;450;527;623;633	.	ENSP00000249601:Y617X	Y	-	3	2	ARHGAP22	49328327	0.035000	0.19736	0.073000	0.20177	0.257000	0.26127	-0.672000	0.05244	-0.293000	0.08986	-0.150000	0.13652	TAC		0.687	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1		NM_021226		14	3	0	0	0	0.024245	0	14	3		
PCDH15	65217	broad.mit.edu	37	10	56077173	56077173	+	Missense_Mutation	SNP	C	C	T	rs562377533	byFrequency	TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr10:56077173C>T	ENST00000320301.6	-	8	1128	c.734G>A	c.(733-735)cGa>cAa	p.R245Q	PCDH15_ENST00000373957.3_Missense_Mutation_p.R223Q|PCDH15_ENST00000414778.1_Missense_Mutation_p.R250Q|PCDH15_ENST00000395445.1_Missense_Mutation_p.R245Q|PCDH15_ENST00000437009.1_Missense_Mutation_p.R245Q|PCDH15_ENST00000395430.1_Missense_Mutation_p.R245Q|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.R208Q|PCDH15_ENST00000395446.1_Missense_Mutation_p.R245Q|PCDH15_ENST00000373955.1_Missense_Mutation_p.R245Q|PCDH15_ENST00000373965.2_Missense_Mutation_p.R245Q|PCDH15_ENST00000361849.3_Missense_Mutation_p.R245Q|PCDH15_ENST00000395438.1_Missense_Mutation_p.R245Q|PCDH15_ENST00000395440.1_Missense_Mutation_p.R245Q|PCDH15_ENST00000395442.1_Missense_Mutation_p.R245Q|PCDH15_ENST00000395433.1_Missense_Mutation_p.R223Q	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	245	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.R250Q(1)|p.R245Q(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGTGGTGGTTCGCCTCTCATT	0.478										HNSCC(58;0.16)			c|||	2	0.000399361	0.0015	0.0	5008	,	,		16800	0.0		0.0	False		,,,				2504	0.0					uc001jju.1		NaN																	2	Substitution - Missense(2)		large_intestine(2)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(733-735)CGA>CAA		protocadherin 15 isoform CD1-4 precursor							172.0	131.0	145.0					10																	56077173		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56077173C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.734G>A	10.37:g.56077173C>T	ENSP00000322604:p.Arg245Gln	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.R250Q|PCDH15_uc010qhr.1_Missense_Mutation_p.R245Q|PCDH15_uc010qhs.1_Missense_Mutation_p.R250Q|PCDH15_uc010qht.1_Missense_Mutation_p.R245Q|PCDH15_uc010qhu.1_Missense_Mutation_p.R245Q|PCDH15_uc001jjv.1_Missense_Mutation_p.R223Q|PCDH15_uc010qhv.1_Missense_Mutation_p.R245Q|PCDH15_uc010qhw.1_Missense_Mutation_p.R208Q|PCDH15_uc010qhx.1_Missense_Mutation_p.R245Q|PCDH15_uc010qhy.1_Missense_Mutation_p.R250Q|PCDH15_uc010qhz.1_Missense_Mutation_p.R245Q|PCDH15_uc010qia.1_Missense_Mutation_p.R223Q|PCDH15_uc010qib.1_Missense_Mutation_p.R223Q|PCDH15_uc001jjw.2_Missense_Mutation_p.R245Q	p.R245Q	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			8	1129	-		Melanoma(3;0.117)|Lung SC(717;0.238)	245			Extracellular (Potential).|Cadherin 2.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.734G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274973	0.40194	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58060	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.36;0.67;0.67;0.67;0.67;0.67;0.67;0.67	4.77	4.77	0.60923	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.68632	0.3022	L	0.55103	1.725	0.28773	N	0.900257	D;D;D;D;D;D;D;D;D;D;D;P;P;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;0.999;1.0;1.0;1.0;1.0;0.949;0.858;0.992;1.0	D;D;D;D;D;D;D;D;D;D;D;B;P;P;D	0.87578	0.998;0.992;0.989;0.986;0.979;0.97;0.998;0.974;0.986;0.986;0.974;0.44;0.559;0.783;0.986	T	0.62553	-0.6830	9	0.31617	T	0.26	.	17.7447	0.88416	0.0:1.0:0.0:0.0	.	223;245;245;250;245;208;245;245;245;245;245;250;245;223;245	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	Q	245;250;245;245;245;245;245;245;208;245;223;223;245;245;250;245;245	ENSP00000363076:R245Q;ENSP00000410304:R250Q;ENSP00000378826:R245Q;ENSP00000378832:R245Q;ENSP00000378833:R245Q;ENSP00000378829:R245Q;ENSP00000378827:R245Q;ENSP00000378820:R208Q;ENSP00000354950:R245Q;ENSP00000378821:R223Q;ENSP00000363068:R223Q;ENSP00000322604:R245Q;ENSP00000378818:R245Q;ENSP00000412628:R245Q;ENSP00000363066:R245Q	ENSP00000322604:R245Q	R	-	2	0	PCDH15	55747179	0.952000	0.32445	0.996000	0.52242	0.128000	0.20619	2.286000	0.43496	2.346000	0.79739	0.557000	0.71058	CGA		0.478	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2		NM_033056		60	19	0	0	0	0.01441	0	60	19		
FRG2B	441581	broad.mit.edu	37	10	135438800	135438800	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr10:135438800G>A	ENST00000425520.1	-	4	692	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	FRG2B_ENST00000443774.1_Missense_Mutation_p.R215W	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	214						nucleus (GO:0005634)		p.R215W(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AGAGGCCCCCGGAGCCGAGTG	0.582																																						uc010qvg.1		NaN																	1	Substitution - Missense(1)		ovary(1)		0						c.(640-642)CGG>TGG		FSHD region gene 2 family, member B							7.0	9.0	8.0					10																	135438800		1667	3744	5411	SO:0001583	missense	441581					nucleus		g.chr10:135438800G>A	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.640C>T	10.37:g.135438800G>A	ENSP00000401310:p.Arg214Trp						p.R214W	NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	4	693	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	214					Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	37	c.640C>T	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	9.078	0.998596	0.19121	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.47869	0.83;0.83	.	.	.	.	1.446430	0.04657	N	0.408159	T	0.47967	0.1474	N	0.12182	0.205	0.19775	N	0.99995	D	0.76494	0.999	D	0.76575	0.988	T	0.47045	-0.9147	8	0.49607	T	0.09	-1.5836	.	.	.	.	214	Q96QU4	FRG2B_HUMAN	W	215;214	ENSP00000408343:R215W;ENSP00000401310:R214W	ENSP00000401310:R214W	R	-	1	2	FRG2B	135288790	0.016000	0.18221	0.640000	0.29408	0.646000	0.38490	0.308000	0.19314	0.119000	0.18210	0.121000	0.15741	CGG		0.582	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1		NM_001080998		37	27	0	0	0	0.030466	0	37	27		
OR51A2	401667	broad.mit.edu	37	11	4976491	4976491	+	Silent	SNP	G	G	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr11:4976491G>T	ENST00000380371.1	-	1	452	c.453C>A	c.(451-453)tcC>tcA	p.S151S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTCTTAAAGGAGAATACTA	0.423																																						uc010qyt.1		NaN																	0					0						c.(451-453)TCC>TCA		olfactory receptor, family 51, subfamily A,							103.0	85.0	92.0					11																	4976491		2065	3855	5920	SO:0001819	synonymous_variant	401667				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4976491G>T	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"""GPCR / Class A : Olfactory receptors"""	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.453C>A	11.37:g.4976491G>T							p.S151S	NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	453	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	151			Helical; Name=4; (Potential).			Silent	SNP	ENST00000380371.1	37	c.453C>A	CCDS31368.1																																																																																				0.423	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1		NM_001004748		35	97	1	0	9.62906e-15	0.025465	1.04128e-14	35	97		
CST6	1474	broad.mit.edu	37	11	65780370	65780370	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr11:65780370G>T	ENST00000312134.2	+	2	518	c.314G>T	c.(313-315)gGa>gTa	p.G105V		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	105					anatomical structure morphogenesis (GO:0009653)|epidermis development (GO:0008544)|negative regulation of endopeptidase activity (GO:0010951)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			large_intestine(1)|lung(1)|ovary(1)	3						AGGGTCACTGGAGACCACGTC	0.657																																						uc001ogr.2		NaN																	0				ovary(1)	1						c.(313-315)GGA>GTA		cystatin M precursor							80.0	64.0	69.0					11																	65780370		2201	4296	6497	SO:0001583	missense	1474				anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr11:65780370G>T	U62800	CCDS8126.1	11q13	2005-09-29			ENSG00000175315	ENSG00000175315			2478	protein-coding gene	gene with protein product		601891				9154125, 9099741	Standard	NM_001323		Approved		uc001ogr.3	Q15828	OTTHUMG00000166750	ENST00000312134.2:c.314G>T	11.37:g.65780370G>T	ENSP00000311313:p.Gly105Val					CST6_uc001ogs.1_Missense_Mutation_p.G15V	p.G105V	NM_001323	NP_001314	Q15828	CYTM_HUMAN			2	368	+			105					Q540N7	Missense_Mutation	SNP	ENST00000312134.2	37	c.314G>T	CCDS8126.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082144	0.55861	.	.	ENSG00000175315	ENST00000312134	T	0.09723	2.95	5.23	3.29	0.37713	Proteinase inhibitor I25, cystatin (2);	0.000000	0.34291	N	0.004084	T	0.21509	0.0518	L	0.54323	1.7	0.21861	N	0.999501	D;D	0.89917	1.0;0.998	D;D	0.78314	0.991;0.927	T	0.03364	-1.1044	10	0.31617	T	0.26	-19.5261	6.5792	0.22583	0.0964:0.1847:0.7189:0.0	.	105;105	Q6IBD2;Q15828	.;CYTM_HUMAN	V	105	ENSP00000311313:G105V	ENSP00000311313:G105V	G	+	2	0	CST6	65536946	0.573000	0.26676	0.026000	0.17262	0.130000	0.20726	1.525000	0.35953	1.292000	0.44672	0.462000	0.41574	GGA		0.657	CST6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391348.1		NM_001323		17	30	1	0	1.5739e-10	0.028581	1.68244e-10	17	30		
TENM4	26011	broad.mit.edu	37	11	78443573	78443573	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr11:78443573G>A	ENST00000278550.7	-	21	3388	c.2926C>T	c.(2926-2928)Cgg>Tgg	p.R976W		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	976					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										AAAGGTGCCCGCTCGAACCGC	0.542																																						uc001ozl.3		NaN																	0				ovary(2)|pancreas(2)	4						c.(2926-2928)CGG>TGG		odz, odd Oz/ten-m homolog 4							62.0	64.0	63.0					11																	78443573		2025	4185	6210	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78443573G>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.2926C>T	11.37:g.78443573G>A	ENSP00000278550:p.Arg976Trp						p.R976W	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			21	3389	-			976			Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.2926C>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239955	0.79912	.	.	ENSG00000149256	ENST00000278550	T	0.13901	2.55	5.08	3.17	0.36434	Carboxypeptidase-like, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.44664	0.1304	M	0.91768	3.24	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	T	0.57254	-0.7843	9	.	.	.	.	14.3141	0.66437	0.0:0.0:0.7304:0.2695	.	976	Q6N022	TEN4_HUMAN	W	976	ENSP00000278550:R976W	.	R	-	1	2	ODZ4	78121221	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.834000	0.55798	0.693000	0.31634	0.561000	0.74099	CGG		0.542	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2				15	9	0	0	0	0.020292	0	15	9		
AQP5	362	broad.mit.edu	37	12	50355840	50355840	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr12:50355840G>A	ENST00000293599.6	+	1	188	c.40G>A	c.(40-42)Gtg>Atg	p.V14M	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	14					camera-type eye morphogenesis (GO:0048593)|carbon dioxide transport (GO:0015670)|excretion (GO:0007588)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			large_intestine(1)|lung(3)	4						CCTCAAGGCCGTGTTCGCAGA	0.697																																						uc001rvo.2		NaN																	0					0						c.(40-42)GTG>ATG		aquaporin 5							67.0	48.0	54.0					12																	50355840		2203	4300	6503	SO:0001583	missense	362				carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity	g.chr12:50355840G>A	U46569	CCDS8793.1	12q13	2013-09-10				ENSG00000161798		"""Ion channels / Aquaporins"""	638	protein-coding gene	gene with protein product		600442				8621489, 23830519	Standard	NM_001651		Approved		uc001rvo.3	P55064	OTTHUMG00000169710	ENST00000293599.6:c.40G>A	12.37:g.50355840G>A	ENSP00000293599:p.Val14Met						p.V14M	NM_001651	NP_001642	P55064	AQP5_HUMAN			1	562	+			14			Helical; (Potential).		Q6FGW8	Missense_Mutation	SNP	ENST00000293599.6	37	c.40G>A	CCDS8793.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294256	0.60086	.	.	ENSG00000161798	ENST00000293599	D	0.93426	-3.22	3.48	2.56	0.30785	Aquaporin-like (2);	0.297688	0.23139	U	0.051490	D	0.91456	0.7303	M	0.64404	1.975	0.40911	D	0.984231	P	0.51240	0.943	P	0.47864	0.559	D	0.89056	0.3459	10	0.59425	D	0.04	-17.1968	4.9488	0.14004	0.1212:0.2218:0.657:0.0	.	14	P55064	AQP5_HUMAN	M	14	ENSP00000293599:V14M	ENSP00000293599:V14M	V	+	1	0	AQP5	48642107	1.000000	0.71417	0.044000	0.18714	0.633000	0.38033	3.981000	0.56902	0.778000	0.33520	0.462000	0.41574	GTG		0.697	AQP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405542.2		NM_001651		19	40	0	0	0	0.043863	0	19	40		
C12orf42	374470	broad.mit.edu	37	12	103696166	103696166	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr12:103696166G>A	ENST00000378113.2	-	6	1028	c.803C>T	c.(802-804)gCg>gTg	p.A268V	C12orf42_ENST00000548048.1_Missense_Mutation_p.A201V|C12orf42_ENST00000548883.1_Missense_Mutation_p.A268V|C12orf42_ENST00000315192.8_Intron	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	268										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						ATTTCCGGACGCGCCCAGGAG	0.667																																						uc001tjt.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(802-804)GCG>GTG		hypothetical protein LOC374470							53.0	62.0	59.0					12																	103696166		2061	4220	6281	SO:0001583	missense	374470							g.chr12:103696166G>A	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.803C>T	12.37:g.103696166G>A	ENSP00000367353:p.Ala268Val					C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.A268V|C12orf42_uc001tju.2_Missense_Mutation_p.A173V	p.A268V	NM_198521	NP_940923	Q96LP6	CL042_HUMAN			6	891	-			268					Q49A64|Q4G0S2	Missense_Mutation	SNP	ENST00000378113.2	37	c.803C>T	CCDS44963.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373410	0.24857	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113	T;T;T	0.48522	0.81;0.81;0.81	4.42	-8.84	0.00803	.	2.020920	0.02528	N	0.093292	T	0.17746	0.0426	N	0.12746	0.255	0.09310	N	1	B	0.24368	0.102	B	0.15484	0.013	T	0.31194	-0.9952	10	0.02654	T	1	4.3776	1.6617	0.02793	0.4339:0.1695:0.2257:0.1709	.	268	Q96LP6	CL042_HUMAN	V	268;201;268	ENSP00000447908:A268V;ENSP00000449362:A201V;ENSP00000367353:A268V	ENSP00000367353:A268V	A	-	2	0	C12orf42	102220296	0.000000	0.05858	0.000000	0.03702	0.330000	0.28571	-0.832000	0.04400	-2.204000	0.00743	0.561000	0.74099	GCG		0.667	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1		NM_198521		49	79	0	0	0	0.01441	0	49	79		
TMEM132D	121256	broad.mit.edu	37	12	129559351	129559351	+	Missense_Mutation	SNP	G	G	A	rs542438666		TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr12:129559351G>A	ENST00000422113.2	-	9	2695	c.2369C>T	c.(2368-2370)aCg>aTg	p.T790M	TMEM132D_ENST00000389441.4_Missense_Mutation_p.T328M	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	790					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GATGTTTGCCGTTCCAACAGC	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		21901	0.0		0.0	False		,,,				2504	0.001					uc009zyl.1		NaN																	0				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(2368-2370)ACG>ATG		transmembrane protein 132D precursor							192.0	156.0	168.0					12																	129559351		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129559351G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2369C>T	12.37:g.129559351G>A	ENSP00000408581:p.Thr790Met					TMEM132D_uc001uia.2_Missense_Mutation_p.T328M	p.T790M	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	2697	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	790			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2369C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	0.701	-0.790851	0.02884	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.14144	2.53;2.53	4.2	4.2	0.49525	.	0.206643	0.38837	N	0.001551	T	0.25344	0.0616	M	0.65975	2.015	0.09310	N	1	D;P	0.65815	0.995;0.532	P;B	0.56916	0.809;0.08	T	0.05566	-1.0877	9	.	.	.	-18.5498	7.774	0.29026	0.0934:0.1798:0.7268:0.0	.	790;328	Q14C87;Q14C87-2	T132D_HUMAN;.	M	328;790	ENSP00000374092:T328M;ENSP00000408581:T790M	.	T	-	2	0	TMEM132D	128125304	0.892000	0.30473	0.025000	0.17156	0.057000	0.15508	1.613000	0.36900	2.033000	0.60031	0.462000	0.41574	ACG		0.483	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1		NM_133448		33	86	0	0	0	0.017118	0	33	86		
LECT1	11061	broad.mit.edu	37	13	53313190	53313190	+	Silent	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr13:53313190G>A	ENST00000377962.3	-	2	267	c.189C>T	c.(187-189)taC>taT	p.Y63Y	LECT1_ENST00000448904.2_Silent_p.Y63Y			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	63					cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CCTTCCAGAAGTAGAAGGCCC	0.706																																						uc001vhf.2		NaN																	0				ovary(2)	2						c.(187-189)TAC>TAT		leukocyte cell derived chemotaxin 1 isoform 1							22.0	30.0	27.0					13																	53313190		2201	4299	6500	SO:0001819	synonymous_variant	11061				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		g.chr13:53313190G>A	AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"""BRICHOS domain containing"""	17005	protein-coding gene	gene with protein product	"""BRICHOS domain containing 3"""	605147	"""multiple myeloma tumor suppressor 1"""	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.189C>T	13.37:g.53313190G>A						LECT1_uc001vhg.2_Silent_p.Y63Y|LECT1_uc001vhh.2_Silent_p.Y90Y	p.Y63Y	NM_007015	NP_008946	O75829	LECT1_HUMAN		GBM - Glioblastoma multiforme(99;3.38e-08)	2	300	-		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	63			Helical; (Potential).		Q5TAM4|Q8TAY6|Q9UM18	Silent	SNP	ENST00000377962.3	37	c.189C>T	CCDS9437.1																																																																																				0.706	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3				7	20	0	0	0	0.038147	0	7	20		
TMCO3	55002	broad.mit.edu	37	13	114202741	114202741	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr13:114202741C>T	ENST00000434316.2	+	12	2253	c.1894C>T	c.(1894-1896)Cga>Tga	p.R632*	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	632						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GAGCCGGGCGCGAAGAGCGGG	0.652																																						uc001vtu.3		NaN																	0					0						c.(1894-1896)CGA>TGA		transmembrane and coiled-coil domains 3							60.0	60.0	60.0					13																	114202741		2203	4300	6503	SO:0001587	stop_gained	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114202741C>T	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.1894C>T	13.37:g.114202741C>T	ENSP00000389399:p.Arg632*						p.R632*	NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		12	2255	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	632					Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Nonsense_Mutation	SNP	ENST00000434316.2	37	c.1894C>T	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	C	42	9.309182	0.99132	.	.	ENSG00000150403	ENST00000434316	.	.	.	4.94	4.94	0.65067	.	0.117279	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-23.8975	18.2151	0.89882	0.0:1.0:0.0:0.0	.	.	.	.	X	632	.	ENSP00000389399:R632X	R	+	1	2	TMCO3	113250742	1.000000	0.71417	0.933000	0.37362	0.433000	0.31745	7.403000	0.79983	2.293000	0.77203	0.555000	0.69702	CGA		0.652	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3		NM_017905		49	77	0	0	0	0.01441	0	49	77		
POTEG	404785	broad.mit.edu	37	14	19563461	19563461	+	Silent	SNP	T	T	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr14:19563461T>A	ENST00000409832.3	+	5	1027	c.975T>A	c.(973-975)ctT>ctA	p.L325L	RNU6-1239P_ENST00000391310.1_RNA|CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	325										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCCTTCTACTTGAGCAAAACA	0.358																																						uc001vuz.1		NaN																	0				ovary(1)	1						c.(973-975)CTT>CTA		POTE ankyrin domain family, member G							9.0	12.0	11.0					14																	19563461		922	2121	3043	SO:0001819	synonymous_variant	404785							g.chr14:19563461T>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.975T>A	14.37:g.19563461T>A						POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA|uc001vvb.2_RNA	p.L325L	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			5	1027	+			325			ANK 5.		A1L153|A6NMI9|Q6S5H6|Q6S8J2	Silent	SNP	ENST00000409832.3	37	c.975T>A	CCDS32018.1																																																																																				0.358	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1		NM_001005356		27	276	0	0	0	0.023175	0	27	276		
SUPT16H	11198	broad.mit.edu	37	14	21829276	21829276	+	Silent	SNP	T	T	C			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr14:21829276T>C	ENST00000216297.2	-	16	2228	c.1890A>G	c.(1888-1890)aaA>aaG	p.K630K		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	630					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TTTTATAACGTTTCTGTACTT	0.408																																						uc001wao.2		NaN																	0					0						c.(1888-1890)AAA>AAG		chromatin-specific transcription elongation							128.0	116.0	120.0					14																	21829276		2203	4300	6503	SO:0001819	synonymous_variant	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21829276T>C	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1890A>G	14.37:g.21829276T>C						SUPT16H_uc001wan.2_5'Flank	p.K630K	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	16	2229	-	all_cancers(95;0.00115)		630					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Silent	SNP	ENST00000216297.2	37	c.1890A>G	CCDS9569.1																																																																																				0.408	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2				19	113	0	0	0	0.008871	0	19	113		
EFS	10278	broad.mit.edu	37	14	23828664	23828664	+	Silent	SNP	T	T	G			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr14:23828664T>G	ENST00000216733.3	-	4	1630	c.1023A>C	c.(1021-1023)ccA>ccC	p.P341P	EFS_ENST00000351354.3_Silent_p.P248P|RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000429593.2_Silent_p.P172P	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	341	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GCAGGCGGGGTGGGGGTGGGG	0.697																																						uc001wjo.2		NaN																	0				large_intestine(1)	1						c.(1021-1023)CCA>CCC		embryonal Fyn-associated substrate isoform 1							32.0	33.0	33.0					14																	23828664		1974	3869	5843	SO:0001819	synonymous_variant	10278				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23828664T>G	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.1023A>C	14.37:g.23828664T>G						EFS_uc001wjp.2_Silent_p.P248P|EFS_uc010tnm.1_Silent_p.P172P	p.P341P	NM_005864	NP_005855	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	4	1631	-	all_cancers(95;7.12e-06)		341			SH3-binding (Potential).|Pro-rich.		B2RAJ7|B4DJ56|E9PGU2|O43282	Silent	SNP	ENST00000216733.3	37	c.1023A>C	CCDS9595.1																																																																																				0.697	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2				14	63	0	0	0	0.010504	0	14	63		
NEO1	4756	broad.mit.edu	37	15	73593703	73593703	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr15:73593703G>A	ENST00000339362.5	+	29	4654	c.4207G>A	c.(4207-4209)Ggg>Agg	p.G1403R	NEO1_ENST00000560262.1_Missense_Mutation_p.G1350R|NEO1_ENST00000261908.6_Missense_Mutation_p.G1403R|NEO1_ENST00000558964.1_Missense_Mutation_p.G1392R			Q92859	NEO1_HUMAN	neogenin 1	1403					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AGCCTCCATCGGGACTCTAGG	0.557																																						uc002avm.3		NaN																	0				pancreas(1)	1						c.(4207-4209)GGG>AGG		neogenin homolog 1 precursor							98.0	81.0	87.0					15																	73593703		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73593703G>A	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.4207G>A	15.37:g.73593703G>A	ENSP00000341198:p.Gly1403Arg					NEO1_uc010ukx.1_Missense_Mutation_p.G1392R|NEO1_uc010uky.1_Missense_Mutation_p.G1350R|NEO1_uc010ukz.1_Missense_Mutation_p.G816R|NEO1_uc002avn.3_Missense_Mutation_p.G1041R	p.G1403R	NM_002499	NP_002490	Q92859	NEO1_HUMAN			28	4349	+			1403			Cytoplasmic (Potential).		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.4207G>A	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	32	5.189073	0.94923	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T	0.56941	0.43	5.31	5.31	0.75309	Neogenin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74779	0.3761	M	0.78637	2.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	T	0.78135	-0.2322	10	0.87932	D	0	-10.1581	18.9719	0.92718	0.0:0.0:1.0:0.0	.	1350;1392;1114;1403	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	R	1350;1114;1403	ENSP00000261908:G1403R	ENSP00000261908:G1403R	G	+	1	0	NEO1	71380756	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.230000	0.95299	2.490000	0.84030	0.655000	0.94253	GGG		0.557	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2		NM_002499		3	36	0	0	0	0.004672	0	3	36		
ZNF710	374655	broad.mit.edu	37	15	90611415	90611415	+	Missense_Mutation	SNP	G	G	A	rs377693133		TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr15:90611415G>A	ENST00000268154.4	+	2	1297	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			CAGGGCACCCGGCCCCACAAG	0.642																																						uc002bov.1		NaN																	0				central_nervous_system(1)	1						c.(1045-1047)CGG>CAG		zinc finger protein 710		G	GLN/ARG	0,4400		0,0,2200	69.0	67.0	67.0		1046	5.3	1.0	15		67	1,8595	1.2+/-3.3	0,1,4297	no	missense	ZNF710	NM_198526.2	43	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	349/665	90611415	1,12995	2200	4298	6498	SO:0001583	missense	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90611415G>A	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1046G>A	15.37:g.90611415G>A	ENSP00000268154:p.Arg349Gln						p.R349Q	NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		2	1169	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		349					A0AVS3|Q6ZMK9|Q8NDU0	Missense_Mutation	SNP	ENST00000268154.4	37	c.1046G>A	CCDS10358.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913861	0.92178	0.0	1.16E-4	ENSG00000140548	ENST00000268154	T	0.19806	2.12	5.32	5.32	0.75619	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000024	T	0.44993	0.1320	M	0.71296	2.17	0.58432	D	0.999999	D	0.76494	0.999	P	0.62560	0.904	T	0.38564	-0.9655	10	0.87932	D	0	-42.9195	17.7452	0.88419	0.0:0.0:1.0:0.0	.	349	Q8N1W2	ZN710_HUMAN	Q	349	ENSP00000268154:R349Q	ENSP00000268154:R349Q	R	+	2	0	ZNF710	88412419	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.636000	0.98440	2.760000	0.94817	0.655000	0.94253	CGG		0.642	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1		NM_198526		71	35	0	0	0	0.01441	0	71	35		
RNPS1	10921	broad.mit.edu	37	16	2304013	2304013	+	Silent	SNP	C	C	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr16:2304013C>T	ENST00000565678.1	-	8	1415	c.870G>A	c.(868-870)ccG>ccA	p.P290P	RNPS1_ENST00000301730.8_Silent_p.P290P|ECI1_ENST00000301729.4_5'Flank|AC009065.1_ENST00000454671.1_Silent_p.P92P|RNPS1_ENST00000568631.1_Silent_p.P290P|RNPS1_ENST00000569598.2_Silent_p.P196P|ECI1_ENST00000562238.1_5'Flank|RNPS1_ENST00000320225.5_Silent_p.P290P|RNPS1_ENST00000561718.1_Silent_p.P113P|ECI1_ENST00000570258.1_5'Flank|RNPS1_ENST00000566397.1_Silent_p.P113P|RNPS1_ENST00000567147.1_Missense_Mutation_p.R220Q|RNPS1_ENST00000397086.2_Silent_p.P290P|RNPS1_ENST00000566458.1_Silent_p.P267P			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	290	Arg/Pro-rich.|Necessary for interaction with TRA2B, nuclear localization and exon-skipping.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						GGCGGCGGCCCGGGGACCGTG	0.657																																						uc002cpt.2		NaN																	0				ovary(1)	1						c.(868-870)CCG>CCA		RNA-binding protein S1, serine-rich domain							16.0	16.0	16.0					16																	2304013		2037	4019	6056	SO:0001819	synonymous_variant	10921				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr16:2304013C>T	AF015608	CCDS10465.1, CCDS66907.1, CCDS73811.1	16p13.3	2013-02-12	2001-11-28		ENSG00000205937	ENSG00000205937		"""RNA binding motif (RRM) containing"""	10080	protein-coding gene	gene with protein product		606447	"""RNA-binding protein S1, serine-rich domain"""			9580558, 8543184	Standard	XM_005255048		Approved		uc002cpu.3	Q15287	OTTHUMG00000128828	ENST00000565678.1:c.870G>A	16.37:g.2304013C>T						DCI_uc002cpr.2_5'Flank|DCI_uc002cps.2_5'Flank|RNPS1_uc002cpu.2_Silent_p.P290P|RNPS1_uc002cpv.2_Silent_p.P113P|RNPS1_uc002cpw.2_Silent_p.P290P|RNPS1_uc002cpx.2_Silent_p.P267P|RNPS1_uc010uwa.1_RNA	p.P290P	NM_080594	NP_542161	Q15287	RNPS1_HUMAN			8	1416	-			290			Necessary for interaction with TRA2B, nuclear localization and exon-skipping.|Arg/Pro-rich.		A8K1P0|B4DDU8|B4DZU7|B7ZA17|O75308|Q32P25|Q8WY42|Q9NYG3	Silent	SNP	ENST00000565678.1	37	c.870G>A	CCDS10465.1																																																																																				0.657	RNPS1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435415.1		NM_080594		4	8	0	0	0	0.014758	0	4	8		
CIITA	4261	broad.mit.edu	37	16	11001758	11001758	+	Silent	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr16:11001758G>A	ENST00000324288.8	+	11	2542	c.2409G>A	c.(2407-2409)gcG>gcA	p.A803A	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	803					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CACTGCGGGCGCGGCAGCTGC	0.682			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	uc002dai.3		NaN		Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75		PMBL|Hodgkin Lymphona|		0				central_nervous_system(1)	1						c.(2407-2409)GCG>GCA		class II transactivator							17.0	25.0	22.0					16																	11001758		2135	4184	6319	SO:0001819	synonymous_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11001758G>A	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2409G>A	16.37:g.11001758G>A						CIITA_uc002daj.3_Silent_p.A804A|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Silent_p.A803A|CIITA_uc002dah.2_Silent_p.A755A|CIITA_uc010bup.1_Intron	p.A803A	NM_000246	NP_000237	P33076	C2TA_HUMAN			11	2542	+			803					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	ENST00000324288.8	37	c.2409G>A	CCDS10544.1																																																																																				0.682	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2		NM_000246		34	24	0	0	0	0.045705	0	34	24		
ABCC1	4363	broad.mit.edu	37	16	16230365	16230365	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr16:16230365A>G	ENST00000399410.3	+	29	4331	c.4156A>G	c.(4156-4158)Atg>Gtg	p.M1386V	ABCC1_ENST00000346370.5_Missense_Mutation_p.M1330V|ABCC1_ENST00000345148.5_Missense_Mutation_p.M1386V|ABCC1_ENST00000349029.5_Missense_Mutation_p.M1271V|ABCC1_ENST00000351154.5_Missense_Mutation_p.M1327V|ABCC1_ENST00000399408.2_Missense_Mutation_p.M1396V	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1386	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	TTCCCTCCGAATGAACCTGGA	0.552																																						uc010bvi.2		NaN																	0				ovary(4)	4						c.(4156-4158)ATG>GTG		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						63.0	65.0	65.0					16																	16230365		1964	4179	6143	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16230365A>G	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.4156A>G	16.37:g.16230365A>G	ENSP00000382342:p.Met1386Val					ABCC1_uc010bvj.2_Missense_Mutation_p.M1327V|ABCC1_uc010bvk.2_Missense_Mutation_p.M1330V|ABCC1_uc010bvl.2_Missense_Mutation_p.M1386V|ABCC1_uc010bvm.2_Missense_Mutation_p.M1271V|ABCC1_uc002del.3_Missense_Mutation_p.M1280V	p.M1386V	NM_004996	NP_004987	P33527	MRP1_HUMAN			29	4331	+			1386			ABC transporter 2.|Cytoplasmic.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.4156A>G	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843748	0.32606	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25;-3.25	6.04	6.04	0.98038	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.93973	0.8070	N	0.22421	0.69	0.43868	D	0.99647	P;P;D;P;D;D	0.64830	0.611;0.863;0.979;0.934;0.983;0.994	B;P;D;D;D;D	0.79108	0.437;0.614;0.986;0.943;0.992;0.992	D	0.95043	0.8180	10	0.87932	D	0	-45.2679	15.7575	0.78046	1.0:0.0:0.0:0.0	.	1271;1386;1330;1327;1386;1396	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	V	1386;1396;1330;1327;1386;1271;1070	ENSP00000382342:M1386V;ENSP00000382340:M1396V;ENSP00000263019:M1330V;ENSP00000263017:M1327V;ENSP00000263014:M1386V;ENSP00000263016:M1271V	ENSP00000263014:M1386V	M	+	1	0	ABCC1	16137866	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.576000	0.82467	2.317000	0.78254	0.459000	0.35465	ATG		0.552	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1		NM_004996		10	25	0	0	0	0.013537	0	10	25		
SLC5A11	115584	broad.mit.edu	37	16	24902200	24902200	+	Silent	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr16:24902200G>A	ENST00000347898.3	+	9	1297	c.675G>A	c.(673-675)gcG>gcA	p.A225A	SLC5A11_ENST00000568579.1_Silent_p.A155A|SLC5A11_ENST00000545376.1_Silent_p.A155A|SLC5A11_ENST00000539472.1_Silent_p.A161A|SLC5A11_ENST00000569071.1_Intron|SLC5A11_ENST00000424767.2_Silent_p.A190A|SLC5A11_ENST00000567758.1_Silent_p.A190A|SLC5A11_ENST00000449109.2_Intron|SLC5A11_ENST00000565769.1_Silent_p.A161A	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GTTTTGCCGCGGTTGGTGGGA	0.542																																						uc002dmu.2		NaN																	0				ovary(2)	2						c.(673-675)GCG>GCA		solute carrier family 5 (sodium/glucose							124.0	128.0	127.0					16																	24902200		2197	4300	6497	SO:0001819	synonymous_variant	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24902200G>A	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.675G>A	16.37:g.24902200G>A						SLC5A11_uc002dms.2_Silent_p.A161A|SLC5A11_uc010vcd.1_Silent_p.A190A|SLC5A11_uc002dmt.2_Intron|SLC5A11_uc010vce.1_Silent_p.A155A|SLC5A11_uc010bxt.2_Silent_p.A161A	p.A225A	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	9	907	+			225			Helical; (Potential).			Silent	SNP	ENST00000347898.3	37	c.675G>A	CCDS10625.1																																																																																				0.542	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3		NM_052944		98	159	0	0	0	0.01441	0	98	159		
MVP	9961	broad.mit.edu	37	16	29852959	29852959	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr16:29852959G>A	ENST00000357402.5	+	9	1372	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	MVP_ENST00000395353.1_Missense_Mutation_p.E412K|MVP_ENST00000452209.2_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	412					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GACCCAGGACGAAGTCCTGTG	0.617																																						uc002dui.2		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1234-1236)GAA>AAA		major vault protein							27.0	24.0	25.0					16																	29852959		2197	4300	6497	SO:0001583	missense	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29852959G>A	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1234G>A	16.37:g.29852959G>A	ENSP00000349977:p.Glu412Lys					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.1_RNA|MVP_uc002duj.2_Missense_Mutation_p.E412K|MVP_uc010vea.1_Missense_Mutation_p.E6K	p.E412K	NM_005115	NP_005106	Q14764	MVP_HUMAN			9	1318	+			412			MVP 8.		Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	c.1234G>A	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241347	0.79912	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.14893	2.47;2.47	5.61	5.61	0.85477	.	0.148857	0.64402	D	0.000015	T	0.51500	0.1678	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.67548	0.952	T	0.61855	-0.6977	10	0.59425	D	0.04	-11.9549	17.1387	0.86747	0.0:0.0:1.0:0.0	.	412	Q14764	MVP_HUMAN	K	412	ENSP00000349977:E412K;ENSP00000378760:E412K	ENSP00000349977:E412K	E	+	1	0	MVP	29760460	1.000000	0.71417	0.731000	0.30826	0.944000	0.59088	7.739000	0.84976	2.627000	0.88993	0.563000	0.77884	GAA		0.617	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3		NM_005115		20	18	0	0	0	0.043863	0	20	18		
DOC2A	8448	broad.mit.edu	37	16	30017613	30017613	+	Missense_Mutation	SNP	C	C	A	rs373250621		TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr16:30017613C>A	ENST00000350119.4	-	11	1287	c.1097G>T	c.(1096-1098)cGg>cTg	p.R366L	DOC2A_ENST00000564979.1_Missense_Mutation_p.R366L|DOC2A_ENST00000564944.1_Missense_Mutation_p.R366L	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	366	Interaction with UNC13D.				nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						CCAGTGCTTCCGAGCCTCGCC	0.721																																						uc002dvm.2		NaN																	0				ovary(2)	2						c.(1096-1098)CGG>CTG		double C2-like domains, alpha							20.0	20.0	20.0					16																	30017613		2194	4296	6490	SO:0001583	missense	8448				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity	g.chr16:30017613C>A	D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"""Synaptotagmins"""	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.1097G>T	16.37:g.30017613C>A	ENSP00000340017:p.Arg366Leu					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|DOC2A_uc002dvl.2_Missense_Mutation_p.R364L|DOC2A_uc002dvn.2_Missense_Mutation_p.R366L|DOC2A_uc010vef.1_RNA|DOC2A_uc002dvo.2_Missense_Mutation_p.R366L|DOC2A_uc002dvp.2_Missense_Mutation_p.R366L|DOC2A_uc002dvq.2_Missense_Mutation_p.R366L	p.R366L	NM_003586	NP_003577	Q14183	DOC2A_HUMAN			11	1197	-			366			Interaction with UNC13D.		B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Missense_Mutation	SNP	ENST00000350119.4	37	c.1097G>T	CCDS10666.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.660773	0.00772	.	.	ENSG00000149927	ENST00000350119	T	0.71461	-0.57	5.63	-2.11	0.07187	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.704968	0.12277	N	0.483292	T	0.24431	0.0592	N	0.00242	-1.785	0.23459	N	0.997635	B	0.02656	0.0	B	0.01281	0.0	T	0.44421	-0.9329	10	0.02654	T	1	.	6.6525	0.22969	0.4991:0.3474:0.0:0.1535	.	366	Q14183	DOC2A_HUMAN	L	366	ENSP00000340017:R366L	ENSP00000340017:R366L	R	-	2	0	DOC2A	29925114	0.737000	0.28175	0.290000	0.24890	0.005000	0.04900	1.447000	0.35101	-0.174000	0.10743	-0.310000	0.09108	CGG		0.721	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255148.2		NM_003586		19	23	1	0	3.32936e-07	0.038395	3.47899e-07	19	23		
ITGAD	3681	broad.mit.edu	37	16	31425842	31425842	+	Silent	SNP	C	C	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr16:31425842C>T	ENST00000389202.2	+	17	2116	c.2067C>T	c.(2065-2067)ttC>ttT	p.F689F		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	689					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.F689F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTGCCATTTTCAATGAAACCA	0.493																																						uc002ebv.1		NaN																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2065-2067)TTC>TTT		integrin, alpha D precursor							195.0	215.0	208.0					16																	31425842		2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31425842C>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2067C>T	16.37:g.31425842C>T						ITGAD_uc010cap.1_Silent_p.F690F	p.F689F	NM_005353	NP_005344	Q13349	ITAD_HUMAN			17	2116	+			689			Extracellular (Potential).		Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.2067C>T	CCDS32438.1																																																																																				0.493	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1		NM_005353		171	296	0	0	0	0.01441	0	171	296		
YWHAE	7531	broad.mit.edu	37	17	1268269	1268270	+	Nonsense_Mutation	DNP	TA	TA	AT			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr17:1268269_1268270TA>AT	ENST00000264335.8	-	2	414_415	c.147_148TA>AT	c.(145-150)taTAag>taATag	p.49_50YK>**	YWHAE_ENST00000571732.1_Nonsense_Mutation_p.27_28YK>**|YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Nonsense_Mutation_p.49_50YK>**	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	49					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		ATCACATTCTTATATGCAACAG	0.411			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																															uc002fsj.2		NaN		Dom	yes		17	17p13.3	7531		"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"""	yes		M					0		p.Y49C(1)		lung(2)|ovary(1)	3						c.(145-150)TATAAG>TAATAG		tyrosine 3/tryptophan 5 -monooxygenase																																				SO:0001587	stop_gained	7531				apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	g.chr17:1268269_1268270TA>AT	U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"""14-3-3 epsilon"""	605066	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"""			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.147_148delinsAT	17.37:g.1268269_1268270delinsAT	ENSP00000264335:p.Y49_K50delins**					YWHAE_uc002fsk.2_Nonsense_Mutation_p.27_28YK>**|YWHAE_uc010vqh.1_RNA|YWHAE_uc010vqi.1_RNA	p.49_50YK>**	NM_006761	NP_006752	P62258	1433E_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)	2	299_300	-			49_50					B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Nonsense_Mutation	DNP	ENST00000264335.8	37	c.147_148TA>AT	CCDS11001.1																																																																																				0.411	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3		NM_006761		10	153	0	0	0	0.004672	0	10	153		
ADAM11	4185	broad.mit.edu	37	17	42854950	42854950	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr17:42854950G>A	ENST00000200557.6	+	22	2051	c.1882G>A	c.(1882-1884)Ggc>Agc	p.G628S	ADAM11_ENST00000535346.1_Missense_Mutation_p.G428S	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	628	Cys-rich.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CTACCACCAGGGCAAGGAGCT	0.617																																						uc002ihh.2		NaN																	0				pancreas(1)	1						c.(1882-1884)GGC>AGC		ADAM metallopeptidase domain 11 preproprotein							79.0	79.0	79.0					17																	42854950		2203	4300	6503	SO:0001583	missense	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42854950G>A	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.1882G>A	17.37:g.42854950G>A	ENSP00000200557:p.Gly628Ser					ADAM11_uc010wjd.1_Missense_Mutation_p.G428S|ADAM11_uc002ihi.2_5'UTR	p.G628S	NM_002390	NP_002381	O75078	ADA11_HUMAN			22	1882	+		Prostate(33;0.0959)	628			Cys-rich.|Extracellular (Potential).		Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	c.1882G>A	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608543	0.46527	.	.	ENSG00000073670	ENST00000200557;ENST00000535346	T;T	0.20738	2.05;2.05	4.56	3.58	0.41010	ADAM, cysteine-rich (2);	0.270105	0.36167	N	0.002742	T	0.23249	0.0562	M	0.64260	1.97	0.40748	D	0.982896	B;B	0.25312	0.123;0.032	B;B	0.34138	0.176;0.021	T	0.13522	-1.0506	10	0.56958	D	0.05	.	6.3669	0.21459	0.2079:0.0:0.7921:0.0	.	428;628	B4DKD2;O75078	.;ADA11_HUMAN	S	628;428	ENSP00000200557:G628S;ENSP00000443773:G428S	ENSP00000200557:G628S	G	+	1	0	ADAM11	40210476	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.151000	0.58105	2.256000	0.74724	0.561000	0.74099	GGC		0.617	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1		NM_002390		57	116	0	0	0	0.01441	0	57	116		
CACNA1A	773	broad.mit.edu	37	19	13409700	13409700	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr19:13409700C>T	ENST00000360228.5	-	19	2746	c.2747G>A	c.(2746-2748)tGg>tAg	p.W916*	CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.W917*	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	917					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCGCCCTCCCAGAACCCGGG	0.771																																						uc010dze.2		NaN																	0				large_intestine(2)	2						c.(2749-2751)TGG>TAG		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						8.0	9.0	8.0					19																	13409700		1754	3804	5558	SO:0001587	stop_gained	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13409700C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2747G>A	19.37:g.13409700C>T	ENSP00000353362:p.Trp916*					CACNA1A_uc010dzc.2_Nonsense_Mutation_p.W442*|CACNA1A_uc002mwy.3_Nonsense_Mutation_p.W916*|CACNA1A_uc010xne.1_Nonsense_Mutation_p.W445*	p.W917*	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		19	2986	-			917			Cytoplasmic (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Nonsense_Mutation	SNP	ENST00000360228.5	37	c.2750G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	39	7.735251	0.98459	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	.	.	.	3.66	3.66	0.41972	.	37.165600	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	12.2865	0.54795	0.0:1.0:0.0:0.0	.	.	.	.	X	916;920;917;917	.	ENSP00000317661:W917X	W	-	2	0	CACNA1A	13270700	0.990000	0.36364	0.995000	0.50966	0.118000	0.20060	2.593000	0.46180	1.603000	0.50134	0.313000	0.20887	TGG		0.771	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2		NM_000068		17	22	0	0	0	0.043863	0	17	22		
NWD1	284434	broad.mit.edu	37	19	16860863	16860863	+	Silent	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr19:16860863G>A	ENST00000552788.1	+	4	1410	c.1410G>A	c.(1408-1410)tcG>tcA	p.S470S	NWD1_ENST00000549814.1_Silent_p.S470S|NWD1_ENST00000523826.1_Silent_p.S264S|NWD1_ENST00000339803.6_Silent_p.S335S|NWD1_ENST00000379808.3_Silent_p.S470S|NWD1_ENST00000524140.2_Silent_p.S470S			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	470	NACHT.						ATP binding (GO:0005524)	p.S335S(1)|p.S470S(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAGCTTGCTCGGGGGCACTGG	0.632																																						uc002neu.3		NaN																	2	Substitution - coding silent(2)		endometrium(2)	skin(3)|ovary(2)|pancreas(2)	7						c.(1408-1410)TCG>TCA		RecName: Full=NACHT and WD repeat domain-containing protein 1;							63.0	67.0	66.0					19																	16860863		2203	4300	6503	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16860863G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1410G>A	19.37:g.16860863G>A						NWD1_uc002net.3_Silent_p.S335S|NWD1_uc002nev.3_Silent_p.S264S	p.S470S			Q149M9	NWD1_HUMAN			6	1832	+			470			NACHT.		C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.1410G>A																																																																																					0.632	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1		NM_001007525		51	105	0	0	0	0.01441	0	51	105		
GMIP	51291	broad.mit.edu	37	19	19745888	19745888	+	Silent	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr19:19745888G>A	ENST00000203556.4	-	16	1832	c.1695C>T	c.(1693-1695)ccC>ccT	p.P565P	GMIP_ENST00000445806.2_Silent_p.P536P|GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000587238.1_Silent_p.P539P	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	565	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TGACCACAAAGGGTACCTCCT	0.597																																						uc002nnd.2		NaN																	0				ovary(1)	1						c.(1693-1695)CCC>CCT		GEM interacting protein							72.0	68.0	70.0					19																	19745888		2203	4300	6503	SO:0001819	synonymous_variant	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19745888G>A	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1695C>T	19.37:g.19745888G>A						GMIP_uc010xrb.1_Silent_p.P539P|GMIP_uc010xrc.1_Silent_p.P536P	p.P565P	NM_016573	NP_057657	Q9P107	GMIP_HUMAN			16	1812	-			565			Rho-GAP.		A0AVN9|B7ZLZ0	Silent	SNP	ENST00000203556.4	37	c.1695C>T	CCDS12408.1																																																																																				0.597	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1		NM_016573		37	80	0	0	0	0.017118	0	37	80		
RHPN2	85415	broad.mit.edu	37	19	33517486	33517486	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr19:33517486C>T	ENST00000254260.3	-	3	273	c.238G>A	c.(238-240)Gtc>Atc	p.V80I	RHPN2_ENST00000400226.4_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	80					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TCTGAGTTGACGAAGCTCAGC	0.562																																						uc002nuf.2		NaN																	0				central_nervous_system(5)|ovary(1)	6						c.(238-240)GTC>ATC		rhophilin, Rho GTPase binding protein 2							98.0	94.0	95.0					19																	33517486		2203	4300	6503	SO:0001583	missense	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33517486C>T	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.238G>A	19.37:g.33517486C>T	ENSP00000254260:p.Val80Ile					RHPN2_uc010xro.1_5'UTR|RHPN2_uc002nue.2_5'UTR	p.V80I	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN			3	304	-	Esophageal squamous(110;0.137)		80			REM.		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	c.238G>A	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833827	0.71258	.	.	ENSG00000131941	ENST00000254260	T	0.18657	2.2	3.88	2.84	0.33178	.	0.130891	0.50627	D	0.000102	T	0.28267	0.0698	M	0.75615	2.305	0.80722	D	1	D	0.56521	0.976	P	0.44696	0.458	T	0.26608	-1.0098	10	0.72032	D	0.01	0.0206	12.3276	0.55020	0.1822:0.8178:0.0:0.0	.	80	Q8IUC4	RHPN2_HUMAN	I	80	ENSP00000254260:V80I	ENSP00000254260:V80I	V	-	1	0	RHPN2	38209326	1.000000	0.71417	0.961000	0.40146	0.980000	0.70556	4.514000	0.60482	0.945000	0.37605	0.557000	0.71058	GTC		0.562	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2		NM_033103		62	89	0	0	0	0.01441	0	62	89		
RYR1	6261	broad.mit.edu	37	19	39026668	39026668	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr19:39026668A>C	ENST00000359596.3	+	82	11548	c.11548A>C	c.(11548-11550)Aac>Cac	p.N3850H	RYR1_ENST00000360985.3_Missense_Mutation_p.N3850H|AC067969.2_ENST00000595853.1_RNA|RYR1_ENST00000355481.4_Missense_Mutation_p.N3845H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3850					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGAGAGACAGAACAAGGCCGA	0.577																																						uc002oit.2		NaN																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(11548-11550)AAC>CAC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						140.0	123.0	129.0					19																	39026668		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39026668A>C	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11548A>C	19.37:g.39026668A>C	ENSP00000352608:p.Asn3850His					RYR1_uc002oiu.2_Missense_Mutation_p.N3845H|RYR1_uc002oiv.1_Missense_Mutation_p.N765H	p.N3850H	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		82	11678	+	all_cancers(60;7.91e-06)		3850					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.11548A>C	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.965498	0.34659	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.88509	-2.39;-2.39;-2.39	4.38	4.38	0.52667	.	0.158460	0.39407	U	0.001362	D	0.93449	0.7910	M	0.75447	2.3	0.43613	D	0.995982	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.997;0.994	D	0.93830	0.7127	10	0.62326	D	0.03	.	12.7307	0.57197	1.0:0.0:0.0:0.0	.	3850;3845;3850	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	H	3850;3845;3850	ENSP00000352608:N3850H;ENSP00000347667:N3845H;ENSP00000354254:N3850H	ENSP00000347667:N3845H	N	+	1	0	RYR1	43718508	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.685000	0.91246	1.839000	0.53478	0.533000	0.62120	AAC		0.577	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1				8	15	0	0	0	0.004482	0	8	15		
MYBPC2	4606	broad.mit.edu	37	19	50939408	50939408	+	Silent	SNP	C	C	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr19:50939408C>T	ENST00000357701.5	+	4	387	c.336C>T	c.(334-336)tcC>tcT	p.S112S		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	112	Ig-like C2-type 1.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCCACAACTCCGCCAGCAATG	0.607																																						uc002psf.2		NaN																	0				breast(1)	1						c.(334-336)TCC>TCT		myosin binding protein C, fast type							18.0	22.0	21.0					19																	50939408		2043	4191	6234	SO:0001819	synonymous_variant	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50939408C>T		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.336C>T	19.37:g.50939408C>T							p.S112S	NM_004533	NP_004524	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	4	387	+		all_neural(266;0.057)	112			Ig-like C2-type 1.		A1L4G9	Silent	SNP	ENST00000357701.5	37	c.336C>T	CCDS46152.1																																																																																				0.607	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1		NM_004533		3	10	0	0	0	0.009096	0	3	10		
EPN1	29924	broad.mit.edu	37	19	56200276	56200276	+	Silent	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr19:56200276G>A	ENST00000270460.6	+	4	830	c.519G>A	c.(517-519)gcG>gcA	p.A173A	EPN1_ENST00000411543.2_Silent_p.A284A|EPN1_ENST00000591743.1_3'UTR|EPN1_ENST00000085079.7_Silent_p.A173A	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	173					embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CTCCCGAGGCGGAGCAGGCGT	0.692																																						uc002qlw.2		NaN																	0					0						c.(517-519)GCG>GCA		epsin 1 isoform b							10.0	12.0	11.0					19																	56200276		2083	4220	6303	SO:0001819	synonymous_variant	29924				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	g.chr19:56200276G>A	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.519G>A	19.37:g.56200276G>A						EPN1_uc002qlv.2_Silent_p.A173A|EPN1_uc010etd.2_Silent_p.A173A|EPN1_uc002qlx.2_Silent_p.A284A	p.A173A	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN		GBM - Glioblastoma multiforme(193;0.112)	4	861	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	173					Q86ST3|Q9HA18	Silent	SNP	ENST00000270460.6	37	c.519G>A	CCDS46199.1																																																																																				0.692	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1		NM_013333		5	6	0	0	0	0.021553	0	5	6		
TTC27	55622	broad.mit.edu	37	2	33007733	33007733	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr2:33007733G>T	ENST00000317907.4	+	15	2051	c.1820G>T	c.(1819-1821)cGa>cTa	p.R607L		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	607										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TCCTATATCCGATTAAAACAA	0.294																																						uc002rom.2		NaN																	0				central_nervous_system(1)	1						c.(1819-1821)CGA>CTA		tetratricopeptide repeat domain 27							63.0	64.0	63.0					2																	33007733		2201	4291	6492	SO:0001583	missense	55622						protein binding	g.chr2:33007733G>T	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.1820G>T	2.37:g.33007733G>T	ENSP00000313953:p.Arg607Leu					TTC27_uc010ymx.1_Missense_Mutation_p.R557L|TTC27_uc002ron.2_RNA	p.R607L	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN			15	2051	+			607			TPR 5.|HAT 2.		A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	c.1820G>T	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	g	21.2	4.106124	0.77096	.	.	ENSG00000018699	ENST00000317907	T	0.59772	0.24	5.9	5.9	0.94986	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.049024	0.85682	D	0.000000	T	0.74107	0.3673	L	0.56396	1.775	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	T	0.71842	-0.4470	10	0.48119	T	0.1	-11.3179	20.2836	0.98532	0.0:0.0:1.0:0.0	.	607	Q6P3X3	TTC27_HUMAN	L	607	ENSP00000313953:R607L	ENSP00000313953:R607L	R	+	2	0	TTC27	32861237	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.610000	0.82949	2.789000	0.95967	0.651000	0.88453	CGA		0.294	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1		NM_017735		17	20	1	0	5.35267e-07	0.043863	5.53109e-07	17	20		
SOS1	6654	broad.mit.edu	37	2	39250333	39250333	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr2:39250333C>T	ENST00000426016.1	-	11	1322	c.1236G>A	c.(1234-1236)atG>atA	p.M412I	SOS1_ENST00000402219.2_Missense_Mutation_p.M412I|SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000428721.2_3'UTR|SOS1_ENST00000395038.2_Missense_Mutation_p.M412I			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	412					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GTTTCCCCTTCATTTGCTGAC	0.353									Noonan syndrome																													uc002rrk.3		NaN																	0				ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10						c.(1234-1236)ATG>ATA		son of sevenless homolog 1							71.0	63.0	66.0					2																	39250333		2202	4298	6500	SO:0001583	missense	6654	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39250333C>T	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1236G>A	2.37:g.39250333C>T	ENSP00000387784:p.Met412Ile					SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_Missense_Mutation_p.M26I|SOS1_uc002rrl.2_Missense_Mutation_p.M144I	p.M412I	NM_005633	NP_005624	Q07889	SOS1_HUMAN			10	1277	-		all_hematologic(82;0.21)	412					A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.1236G>A	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	8.804	0.933520	0.18206	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.78707	-1.08;-1.08;-1.2	5.52	4.63	0.57726	Dbl homology (DH) domain (1);	0.040327	0.85682	D	0.000000	T	0.60766	0.2294	N	0.08118	0	0.80722	D	1	B;B	0.11235	0.004;0.002	B;B	0.14023	0.01;0.004	T	0.54443	-0.8293	10	0.22109	T	0.4	.	16.5562	0.84485	0.0:0.8691:0.1309:0.0	.	144;412	F5GX06;Q07889	.;SOS1_HUMAN	I	412;412;144;412;412	ENSP00000387784:M412I;ENSP00000384675:M412I;ENSP00000378479:M412I	ENSP00000263879:M412I	M	-	3	0	SOS1	39103837	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.002000	0.40835	1.431000	0.47355	0.557000	0.71058	ATG		0.353	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3		NM_005633		31	49	0	0	0	0.041601	0	31	49		
ANKRD36B	57730	broad.mit.edu	37	2	98177186	98177186	+	RNA	SNP	G	G	C			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr2:98177186G>C	ENST00000443455.1	-	0	917							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		CAGAATCTTTGTCGTCACTTG	0.323																																						uc010yvc.1		NaN																	0					0						c.(805-807)GAC>GAG		ankyrin repeat domain 36B							80.0	85.0	84.0					2																	98177186		1018	2206	3224			57730							g.chr2:98177186G>C	AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"""Ankyrin repeat domain containing"""	29333	protein-coding gene	gene with protein product	"""melanoma-associated antigen"", ""CLL-associated antigen KW-1"""		"""KIAA1641"""	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98177186G>C						ANKRD36B_uc010yve.1_RNA|ANKRD36B_uc010fif.2_RNA	p.D269E	NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN			8	1087	-			269					Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	Missense_Mutation	SNP	ENST00000443455.1	37	c.807C>G																																																																																					0.323	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328967.2		NM_025190		27	41	0	0	0	0.037714	0	27	41		
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr2:178098810C>T	ENST00000397062.3	-	2	789	c.235G>A	c.(235-237)Gag>Aag	p.E79K	NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63K|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63K|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63K|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63K	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3		NaN		Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		20	Substitution - Missense(20)		lung(13)|oesophagus(4)|upper_aerodigestive_tract(1)|urinary_tract(1)|cervix(1)	central_nervous_system(1)	1						c.(235-237)GAG>AAG		nuclear factor erythroid 2-like 2 isoform 1							147.0	146.0	146.0					2																	178098810		1899	4107	6006	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098810C>T		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.235G>A	2.37:g.178098810C>T	ENSP00000380252:p.Glu79Lys	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.E63K|NFE2L2_uc010zfa.1_Missense_Mutation_p.E63K|NFE2L2_uc002uli.3_Missense_Mutation_p.E63K|NFE2L2_uc010fra.2_Missense_Mutation_p.E63K|NFE2L2_uc010frb.2_Missense_Mutation_p.E63K	p.E79K	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	790	-			79					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.235G>A	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936470	0.73442	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64271	0.2583	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.85130	0.996;0.985;0.997;0.996	T	0.68700	-0.5339	10	0.72032	D	0.01	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	63;63;63;79	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	K	63;79;63;63;63;63;63	ENSP00000380253:E63K;ENSP00000380252:E79K;ENSP00000411575:E63K;ENSP00000391590:E63K;ENSP00000400073:E63K;ENSP00000412191:E63K;ENSP00000410015:E63K	ENSP00000380252:E79K	E	-	1	0	NFE2L2	177807056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.737000	0.93849	0.563000	0.77884	GAG		0.443	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4		NM_006164		41	40	0	0	0	0.030466	0	41	40		
ALS2CR12	130540	broad.mit.edu	37	2	202216040	202216040	+	Missense_Mutation	SNP	G	G	A	rs143899839		TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr2:202216040G>A	ENST00000286190.5	-	1	134	c.88C>T	c.(88-90)Cgc>Tgc	p.R30C	ALS2CR12_ENST00000405148.2_Missense_Mutation_p.R30C|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.R30C|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.R30C|ALS2CR12_ENST00000448967.1_5'UTR			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	30					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						GAGTTCTTGCGTGGTAGTTGA	0.517																																						uc010ftg.2		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(88-90)CGC>TGC		amyotrophic lateral sclerosis 2 (juvenile)		G	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	97.0	90.0	92.0		88,88	-6.3	0.0	2	dbSNP_134	92	0,8600		0,0,4300	no	missense,missense	ALS2CR12	NM_001127391.1,NM_139163.2	180,180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	30/423,30/446	202216040	2,13004	2203	4300	6503	SO:0001583	missense	130540				regulation of GTPase activity		protein binding	g.chr2:202216040G>A	AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.88C>T	2.37:g.202216040G>A	ENSP00000286190:p.Arg30Cys					ALS2CR12_uc002uya.3_Missense_Mutation_p.R30C|ALS2CR12_uc010fth.2_RNA	p.R30C	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN			2	532	-			30					G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	ENST00000286190.5	37	c.88C>T	CCDS2346.1	.	.	.	.	.	.	.	.	.	.	G	9.269	1.045144	0.19748	4.54E-4	0.0	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709;ENST00000418364	T;T;T;T;T	0.46819	0.95;0.95;0.95;0.95;0.86	4.5	-6.3	0.02007	.	2.199660	0.01267	N	0.009350	T	0.33527	0.0866	L	0.36672	1.1	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.17198	-1.0377	10	0.46703	T	0.11	12.8256	4.4867	0.11794	0.1088:0.1744:0.5378:0.179	.	30;30	Q96Q35;G5E9S3	AL2SB_HUMAN;.	C	30	ENSP00000286190:R30C;ENSP00000385098:R30C;ENSP00000376086:R30C;ENSP00000412073:R30C;ENSP00000407585:R30C	ENSP00000286190:R30C	R	-	1	0	ALS2CR12	201924285	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.351000	0.07711	-1.209000	0.02631	-1.131000	0.01979	CGC		0.517	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1		NM_139163		11	36	0	0	0	0.016723	0	11	36		
SGK2	10110	broad.mit.edu	37	20	42204997	42204997	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr20:42204997G>A	ENST00000341458.4	+	10	1226	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q	SGK2_ENST00000373077.1_Missense_Mutation_p.R275Q|SGK2_ENST00000373092.3_Missense_Mutation_p.R276Q|SGK2_ENST00000426287.1_Missense_Mutation_p.R302Q|SGK2_ENST00000423407.3_Missense_Mutation_p.R276Q|SGK2_ENST00000373100.1_Missense_Mutation_p.R276Q	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	336	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGAGGCAGCGGCTGGGCTCC	0.602																																						uc002xkv.2		NaN																	0				lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	6						c.(1006-1008)CGG>CAG		serum/glucocorticoid regulated kinase 2 isoform							36.0	39.0	38.0					20																	42204997		2203	4300	6503	SO:0001583	missense	10110				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	g.chr20:42204997G>A	AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.1007G>A	20.37:g.42204997G>A	ENSP00000340608:p.Arg336Gln					SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Missense_Mutation_p.R276Q|SGK2_uc010ggm.2_Missense_Mutation_p.R276Q|SGK2_uc002xks.2_Missense_Mutation_p.R275Q|SGK2_uc002xku.2_Missense_Mutation_p.R276Q	p.R336Q	NM_016276	NP_057360	Q9HBY8	SGK2_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		10	1226	+		Myeloproliferative disorder(115;0.00452)	336			Protein kinase.		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	c.1007G>A	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046527	0.93740	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	4.65	4.65	0.58169	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050719	0.85682	D	0.000000	D	0.89525	0.6740	H	0.96916	3.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93099	0.6507	10	0.87932	D	0	.	17.1874	0.86870	0.0:0.0:1.0:0.0	.	302;336;276	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	Q	276;276;275;276;336;302	ENSP00000362192:R276Q;ENSP00000362184:R276Q;ENSP00000362168:R275Q;ENSP00000392795:R276Q;ENSP00000340608:R336Q;ENSP00000412214:R302Q	ENSP00000340608:R336Q	R	+	2	0	SGK2	41638411	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	9.468000	0.97676	2.505000	0.84491	0.655000	0.94253	CGG		0.602	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1				36	62	0	0	0	0.017118	0	36	62		
HELZ2	85441	broad.mit.edu	37	20	62200824	62200824	+	Silent	SNP	G	G	A	rs143216041	byFrequency	TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr20:62200824G>A	ENST00000467148.1	-	4	834	c.765C>T	c.(763-765)ttC>ttT	p.F255F	HELZ2_ENST00000479540.1_5'Flank|HELZ2_ENST00000427522.2_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	255					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GGCCAAAGTCGAAGACCACCC	0.677													G|||	2	0.000399361	0.0	0.0	5008	,	,		14760	0.0		0.002	False		,,,				2504	0.0					uc002yfm.2		NaN																	0				central_nervous_system(2)	2						c.(763-765)TTC>TTT		PPAR-alpha interacting complex protein 285		G		0,4392		0,0,2196	22.0	28.0	26.0		765	-8.8	0.7	20	dbSNP_134	26	1,8595		0,1,4297	no	coding-synonymous	PRIC285	NM_001037335.2		0,1,6493	AA,AG,GG		0.0116,0.0,0.0077		255/2650	62200824	1,12987	2196	4298	6494	SO:0001819	synonymous_variant	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62200824G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.765C>T	20.37:g.62200824G>A						PRIC285_uc002yfl.1_5'Flank	p.F255F	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		5	1657	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		255					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.765C>T	CCDS33508.1																																																																																				0.677	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1		NM_001037335		22	30	0	0	0	0.016522	0	22	30		
ARFRP1	10139	broad.mit.edu	37	20	62338384	62338384	+	Silent	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr20:62338384G>A	ENST00000359715.5	-	1	626	c.60C>T	c.(58-60)atC>atT	p.I20I	ARFRP1_ENST00000440854.1_Silent_p.I20I|RP4-583P15.15_ENST00000490623.2_5'Flank|ZGPAT_ENST00000448100.2_5'Flank|ARFRP1_ENST00000607873.1_Intron|ZGPAT_ENST00000369967.3_5'Flank|ZGPAT_ENST00000357119.4_5'Flank|ZGPAT_ENST00000328969.5_5'Flank|ZGPAT_ENST00000355969.6_5'Flank|ARFRP1_ENST00000609142.1_Silent_p.I20I|ARFRP1_ENST00000324228.2_Silent_p.I20I			Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	20					gastrulation (GO:0007369)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			CCAGGATCAGGATGCAGTACT	0.607																																						uc002yga.2		NaN																	0				breast(1)|skin(1)	2						c.(58-60)ATC>ATT		ADP-ribosylation factor related protein 1							208.0	134.0	159.0					20																	62338384		2202	4298	6500	SO:0001819	synonymous_variant	10139				small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity	g.chr20:62338384G>A	X91504	CCDS13533.1, CCDS46630.1, CCDS68172.1, CCDS68173.1	20q13.3	2014-05-09			ENSG00000101246	ENSG00000101246		"""ADP-ribosylation factors"""	662	protein-coding gene	gene with protein product		604699				8530503	Standard	NM_003224		Approved	ARP, Arp1, ARL18	uc031rup.1	Q13795	OTTHUMG00000032993	ENST00000359715.5:c.60C>T	20.37:g.62338384G>A						ARFRP1_uc002ygc.2_Silent_p.I20I|ARFRP1_uc002ygh.3_Silent_p.I20I|ARFRP1_uc011abf.1_Silent_p.I20I|ARFRP1_uc011abg.1_Silent_p.I20I|ARFRP1_uc002yge.2_RNA|ARFRP1_uc002ygd.2_RNA|ARFRP1_uc002ygf.2_Silent_p.I20I|ARFRP1_uc002ygg.2_RNA|ARFRP1_uc011abh.1_RNA|ZGPAT_uc002ygi.2_5'Flank|ZGPAT_uc002ygj.2_5'Flank|ZGPAT_uc002ygk.2_5'Flank|ZGPAT_uc010gkk.1_5'Flank|ZGPAT_uc010gkl.1_5'Flank|ZGPAT_uc002ygm.2_5'Flank|ZGPAT_uc002ygn.3_5'Flank	p.I20I	NM_003224	NP_003215	Q13795	ARFRP_HUMAN	Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)		1	627	-	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		20					B7ZKX7|E1P5J9|Q6IBQ0	Silent	SNP	ENST00000359715.5	37	c.60C>T	CCDS13533.1																																																																																				0.607	ARFRP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472024.1				28	34	0	0	0	0.030593	0	28	34		
BSN	8927	broad.mit.edu	37	3	49690722	49690722	+	Missense_Mutation	SNP	G	G	A	rs142148405		TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr3:49690722G>A	ENST00000296452.4	+	5	3847	c.3733G>A	c.(3733-3735)Gca>Aca	p.A1245T		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1245					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCAGCCTGCCGCAGAGGGCAC	0.637																																						uc003cxe.3		NaN																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(3733-3735)GCA>ACA		bassoon protein		A	THR/ALA	1,4353		0,1,2176	18.0	21.0	20.0		3733	-10.2	0.0	3	dbSNP_134	20	0,8502		0,0,4251	no	missense	BSN	NM_003458.3	58	0,1,6427	AA,AG,GG		0.0,0.023,0.0078	benign	1245/3927	49690722	1,12855	2177	4251	6428	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49690722G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.3733G>A	3.37:g.49690722G>A	ENSP00000296452:p.Ala1245Thr						p.A1245T	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	3847	+			1245					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.3733G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	g	0.024	-1.392412	0.01185	2.3E-4	0.0	ENSG00000164061	ENST00000296452	T	0.17213	2.29	5.12	-10.2	0.00374	.	1.941210	0.02732	N	0.115274	T	0.07818	0.0196	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.18871	-1.0323	10	0.10902	T	0.67	.	3.1607	0.06520	0.2233:0.331:0.3188:0.1269	.	1245	Q9UPA5	BSN_HUMAN	T	1245	ENSP00000296452:A1245T	ENSP00000296452:A1245T	A	+	1	0	BSN	49665726	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-2.577000	0.00909	-5.220000	0.00019	-2.689000	0.00140	GCA		0.637	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1		NM_003458		41	67	0	0	0	0.030466	0	41	67		
ARHGEF3	50650	broad.mit.edu	37	3	56807790	56807790	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr3:56807790G>C	ENST00000296315.3	-	2	319	c.151C>G	c.(151-153)Ctc>Gtc	p.L51V	ARHGEF3_ENST00000496106.1_Missense_Mutation_p.L57V|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.L83V|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.L22V|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.L51V|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.L57V	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	51					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GGCGGGATGAGGTTTGCTAGC	0.473																																						uc003dig.2		NaN																	0				ovary(1)	1						c.(151-153)CTC>GTC		Rho guanine nucleotide exchange factor 3 isoform							115.0	111.0	113.0					3																	56807790		2203	4300	6503	SO:0001583	missense	50650				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr3:56807790G>C	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.151C>G	3.37:g.56807790G>C	ENSP00000296315:p.Leu51Val					ARHGEF3_uc011bew.1_Missense_Mutation_p.L51V|ARHGEF3_uc003dih.2_Missense_Mutation_p.L83V|ARHGEF3_uc011bev.1_Missense_Mutation_p.L22V|ARHGEF3_uc003dif.2_Missense_Mutation_p.L57V|ARHGEF3_uc010hmy.1_5'UTR|ARHGEF3_uc003dii.2_Missense_Mutation_p.L51V	p.L51V	NM_019555	NP_062455	Q9NR81	ARHG3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)	2	320	-			51					A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	37	c.151C>G	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384540	0.61845	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373;ENST00000468727;ENST00000473779;ENST00000468466	T;T;T;T;T;T	0.32515	1.55;1.73;1.45;1.76;1.52;1.68	5.28	5.28	0.74379	.	0.063344	0.64402	D	0.000004	T	0.37919	0.1021	M	0.64997	1.995	0.54753	D	0.999988	P;P;B;P;P;P	0.45126	0.768;0.768;0.349;0.851;0.609;0.729	B;B;B;P;B;B	0.45794	0.298;0.222;0.17;0.493;0.17;0.32	T	0.14896	-1.0456	10	0.49607	T	0.09	-8.0811	13.5987	0.62007	0.0745:0.0:0.9255:0.0	.	57;22;51;83;51;57	E9PG37;E7EU49;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;ARHG3_HUMAN;.	V	51;83;57;57;22;51;52;69;83	ENSP00000296315:L51V;ENSP00000341071:L83V;ENSP00000410922:L57V;ENSP00000420420:L57V;ENSP00000418826:L22V;ENSP00000417986:L51V	ENSP00000296315:L51V	L	-	1	0	ARHGEF3	56782830	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.387000	0.79785	2.655000	0.90218	0.650000	0.86243	CTC		0.473	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2		NM_019555		28	10	0	0	0	0.013726	0	28	10		
PRR23B	389151	broad.mit.edu	37	3	138738758	138738758	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr3:138738758G>A	ENST00000329447.5	-	1	1010	c.746C>T	c.(745-747)cCg>cTg	p.P249L	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	249	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCCGGGAGCGGCGAGCGCGC	0.672																																						uc003esy.1		NaN																	0				breast(1)	1						c.(745-747)CCG>CTG		proline rich 23B							18.0	22.0	21.0					3																	138738758		2152	4224	6376	SO:0001583	missense	389151							g.chr3:138738758G>A	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.746C>T	3.37:g.138738758G>A	ENSP00000328768:p.Pro249Leu						p.P249L	NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN			1	1011	-			249			Pro-rich.		B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.746C>T	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	G	7.078	0.569568	0.13560	.	.	ENSG00000184814	ENST00000329447	.	.	.	3.49	-6.99	0.01605	.	2.314220	0.01812	N	0.033518	T	0.21590	0.0520	L	0.43152	1.355	0.09310	N	1	B	0.34313	0.448	B	0.23150	0.044	T	0.07731	-1.0757	9	0.36615	T	0.2	.	2.3822	0.04357	0.1911:0.1756:0.455:0.1782	.	249	Q6ZRT6	PR23B_HUMAN	L	249	.	ENSP00000328768:P249L	P	-	2	0	PRR23B	140221448	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.166000	0.01273	-2.324000	0.00638	-0.268000	0.10319	CCG		0.672	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1		NM_001013650		4	83	0	0	0	0.009096	0	4	83		
PCOLCE2	26577	broad.mit.edu	37	3	142567124	142567124	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr3:142567124G>A	ENST00000295992.3	-	3	689	c.383C>T	c.(382-384)tCt>tTt	p.S128F	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.S128F	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	128	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GTTGGCATCAGAAATCATCTG	0.512																																						uc003evd.2		NaN																	0				ovary(2)|skin(1)	3						c.(382-384)TCT>TTT		procollagen C-endopeptidase enhancer 2							97.0	93.0	94.0					3																	142567124		2203	4300	6503	SO:0001583	missense	26577					extracellular region	collagen binding|heparin binding|peptidase activator activity	g.chr3:142567124G>A	AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.383C>T	3.37:g.142567124G>A	ENSP00000295992:p.Ser128Phe						p.S128F	NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN			3	579	-			128			CUB 1.		B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	37	c.383C>T	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750393	0.89753	.	.	ENSG00000163710	ENST00000295992;ENST00000485766	T;T	0.39229	1.09;1.09	5.25	5.25	0.73442	CUB (5);	0.111909	0.64402	D	0.000005	T	0.77928	0.4204	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.85907	0.1438	10	0.87932	D	0	-14.2261	19.0791	0.93175	0.0:0.0:1.0:0.0	.	128	Q9UKZ9	PCOC2_HUMAN	F	128	ENSP00000295992:S128F;ENSP00000419842:S128F	ENSP00000295992:S128F	S	-	2	0	PCOLCE2	144049814	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	9.263000	0.95617	2.742000	0.94016	0.644000	0.83932	TCT		0.512	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1		NM_013363		39	61	0	0	0	0.021022	0	39	61		
SKIL	6498	broad.mit.edu	37	3	170099114	170099114	+	Nonsense_Mutation	SNP	C	C	G	rs140174204		TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr3:170099114C>G	ENST00000458537.3	+	2	1890	c.1181C>G	c.(1180-1182)tCa>tGa	p.S394*	SKIL_ENST00000413427.2_Nonsense_Mutation_p.S394*|SKIL_ENST00000259119.4_Nonsense_Mutation_p.S394*|SKIL_ENST00000426052.2_Nonsense_Mutation_p.S374*	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	394					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CAGACACATTCATTTTTACAC	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		18401	0.001		0.0	False		,,,				2504	0.0					uc003fgu.2		NaN																	0				ovary(2)|skin(1)	3						c.(1180-1182)TCA>TGA		SKI-like isoform 1							173.0	163.0	166.0					3																	170099114		2203	4300	6503	SO:0001587	stop_gained	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	g.chr3:170099114C>G	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.1181C>G	3.37:g.170099114C>G	ENSP00000415243:p.Ser394*					SKIL_uc011bps.1_Nonsense_Mutation_p.S374*|SKIL_uc003fgv.2_Nonsense_Mutation_p.S394*|SKIL_uc003fgw.2_Nonsense_Mutation_p.S394*	p.S394*	NM_005414	NP_005405	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		3	1893	+	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		394					A6NGT1|B4DT50|O00464|P12756|Q07501	Nonsense_Mutation	SNP	ENST00000458537.3	37	c.1181C>G	CCDS33890.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	36	5.758548	0.96898	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	.	.	.	5.92	5.92	0.95590	.	0.397629	0.26072	N	0.026515	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-17.779	18.4977	0.90870	0.0:1.0:0.0:0.0	.	.	.	.	X	394;374;394;394	.	ENSP00000259119:S394X	S	+	2	0	SKIL	171581808	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.739000	0.62080	2.801000	0.96364	0.650000	0.86243	TCA		0.383	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4		NM_005414		33	56	0	0	0	0.041601	0	33	56		
USP13	8975	broad.mit.edu	37	3	179462957	179462957	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr3:179462957T>C	ENST00000263966.3	+	13	2132	c.1661T>C	c.(1660-1662)gTt>gCt	p.V554A	USP13_ENST00000496897.1_Missense_Mutation_p.V489A|USP13_ENST00000482333.1_Intron	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	554	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CCAGAAAATGTTGATGATTTC	0.512																																						uc003fkh.2		NaN																	0				ovary(1)	1						c.(1660-1662)GTT>GCT		ubiquitin thiolesterase 13							132.0	130.0	130.0					3																	179462957		2203	4300	6503	SO:0001583	missense	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179462957T>C	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1661T>C	3.37:g.179462957T>C	ENSP00000263966:p.Val554Ala					USP13_uc003fkf.2_Intron	p.V554A	NM_003940	NP_003931	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		13	1742	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		554					A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	c.1661T>C	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299657	0.81136	.	.	ENSG00000058056	ENST00000263966;ENST00000496897;ENST00000497155	T;T;T	0.75050	-0.9;-0.9;-0.9	5.4	5.4	0.78164	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.86969	0.6061	M	0.90650	3.135	0.80722	D	1	D	0.60575	0.988	P	0.59487	0.858	D	0.89946	0.4076	10	0.87932	D	0	-18.7158	15.4347	0.75137	0.0:0.0:0.0:1.0	.	554	Q92995	UBP13_HUMAN	A	554;489;200	ENSP00000263966:V554A;ENSP00000417146:V489A;ENSP00000420057:V200A	ENSP00000263966:V554A	V	+	2	0	USP13	180945651	1.000000	0.71417	0.077000	0.20336	0.693000	0.40251	7.887000	0.87295	2.047000	0.60756	0.533000	0.62120	GTT		0.512	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1				31	58	0	0	0	0.041601	0	31	58		
TRIM2	23321	broad.mit.edu	37	4	154217081	154217081	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr4:154217081C>T	ENST00000437508.2	+	6	1523	c.1322C>T	c.(1321-1323)cCg>cTg	p.P441L	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000338700.5_Missense_Mutation_p.P468L	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	441					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GTTAAGTCCCCGGGGAGCGGC	0.527																																						uc003ing.2		NaN																	0				central_nervous_system(1)	1						c.(1321-1323)CCG>CTG		tripartite motif-containing 2 isoform 2							56.0	57.0	57.0					4																	154217081		2203	4300	6503	SO:0001583	missense	23321					cytoplasm	zinc ion binding	g.chr4:154217081C>T	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.1322C>T	4.37:g.154217081C>T	ENSP00000415812:p.Pro441Leu					TRIM2_uc003inh.2_Missense_Mutation_p.P468L	p.P441L	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	6	1523	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	441					D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	c.1322C>T	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977405	0.53720	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	T;T	0.71461	-0.54;-0.57	5.59	4.75	0.60458	.	0.095814	0.64402	N	0.000001	T	0.66886	0.2835	L	0.54323	1.7	0.80722	D	1	B;B	0.15719	0.014;0.008	B;B	0.08055	0.003;0.001	T	0.65224	-0.6220	10	0.66056	D	0.02	-20.3582	14.4653	0.67480	0.0:0.9293:0.0:0.0707	.	468;441	D3DP09;Q9C040	.;TRIM2_HUMAN	L	441;468	ENSP00000415812:P441L;ENSP00000339659:P468L	ENSP00000339659:P468L	P	+	2	0	TRIM2	154436531	1.000000	0.71417	0.874000	0.34290	0.484000	0.33280	7.411000	0.80078	1.371000	0.46172	0.561000	0.74099	CCG		0.527	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1				33	41	0	0	0	0.012213	0	33	41		
FAT1	2195	broad.mit.edu	37	4	187539564	187539564	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr4:187539564G>A	ENST00000441802.2	-	10	8385	c.8176C>T	c.(8176-8178)Cga>Tga	p.R2726*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2726	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R2729R(1)|p.R2726R(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGTTCTGCTCGGATGAGATCT	0.453										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NaN																	2	Substitution - coding silent(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(8176-8178)CGA>TGA		FAT tumor suppressor 1 precursor							124.0	121.0	122.0					4																	187539564		1905	4111	6016	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187539564G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8176C>T	4.37:g.187539564G>A	ENSP00000406229:p.Arg2726*	HNSCC(5;0.00058)					p.R2726*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	8364	-			2726			Extracellular (Potential).|Cadherin 25.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.8176C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	48	14.034305	0.99776	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.0	2.0	0.26442	.	0.451231	0.23314	N	0.049526	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	13.8005	0.63196	0.0:0.0:0.4926:0.5074	.	.	.	.	X	2726;2728	.	ENSP00000260147:R2728X	R	-	1	2	FAT1	187776558	0.990000	0.36364	0.769000	0.31535	0.267000	0.26476	1.921000	0.40035	0.741000	0.32674	0.655000	0.94253	CGA		0.453	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		NM_005245		56	101	0	0	0	0.01441	0	56	101		
CDH10	1008	broad.mit.edu	37	5	24537588	24537588	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr5:24537588C>T	ENST00000264463.4	-	3	934	c.427G>A	c.(427-429)Gag>Aag	p.E143K		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	143	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AACTCTGACTCTGGCTCTACT	0.423										HNSCC(23;0.051)																												uc003jgr.1		NaN																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(427-429)GAG>AAG		cadherin 10, type 2 preproprotein							153.0	147.0	149.0					5																	24537588		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24537588C>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.427G>A	5.37:g.24537588C>T	ENSP00000264463:p.Glu143Lys	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.E143K	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	3	759	-			143			Cadherin 1.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.427G>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733181	0.89482	.	.	ENSG00000040731	ENST00000264463	T	0.53640	0.61	5.82	5.82	0.92795	Cadherin (4);Cadherin-like (1);	0.116551	0.64402	D	0.000008	T	0.53400	0.1794	M	0.73217	2.22	0.48571	D	0.999675	B	0.30686	0.29	B	0.32583	0.148	T	0.53837	-0.8382	10	0.54805	T	0.06	.	19.0796	0.93177	0.0:1.0:0.0:0.0	.	143	Q9Y6N8	CAD10_HUMAN	K	143	ENSP00000264463:E143K	ENSP00000264463:E143K	E	-	1	0	CDH10	24573345	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.848000	0.62874	2.758000	0.94735	0.557000	0.71058	GAG		0.423	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2		NM_006727		62	109	0	0	0	0.01441	0	62	109		
HTR1A	3350	broad.mit.edu	37	5	63257179	63257179	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr5:63257179G>A	ENST00000323865.3	-	1	601	c.368C>T	c.(367-369)tCc>tTc	p.S123F	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	123					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GTGCAAGATGGATGAGGTGCA	0.642																																						uc011cqt.1		NaN																	0				ovary(2)|pancreas(2)	4						c.(367-369)TCC>TTC		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						72.0	64.0	67.0					5																	63257179		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63257179G>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.368C>T	5.37:g.63257179G>A	ENSP00000316244:p.Ser123Phe						p.S123F	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	368	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	123			Helical; Name=3; (By similarity).		Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.368C>T	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316418	0.81469	.	.	ENSG00000178394	ENST00000323865	T	0.56103	0.48	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85353	0.5677	H	0.99600	4.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91968	0.5584	10	0.87932	D	0	.	18.0729	0.89417	0.0:0.0:1.0:0.0	.	123	P08908	5HT1A_HUMAN	F	123	ENSP00000316244:S123F	ENSP00000316244:S123F	S	-	2	0	HTR1A	63292935	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.509000	0.84616	0.561000	0.74099	TCC		0.642	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1		NM_000524		26	13	0	0	0	0.01892	0	26	13		
LCA5	167691	broad.mit.edu	37	6	80197346	80197346	+	Missense_Mutation	SNP	G	G	A	rs139048294		TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr6:80197346G>A	ENST00000392959.1	-	9	2080	c.1469C>T	c.(1468-1470)cCa>cTa	p.P490L	LCA5_ENST00000369846.4_Missense_Mutation_p.P490L	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	490					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		AGGTAACAATGGCAAAACAGG	0.383																																						uc003pix.2		NaN																	0					0						c.(1468-1470)CCA>CTA		Leber congenital amaurosis 5		G	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	147.0	146.0	146.0		1469,1469	4.7	0.3	6	dbSNP_134	146	0,8598		0,0,4299	no	missense,missense	LCA5	NM_001122769.2,NM_181714.3	98,98	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	490/698,490/698	80197346	1,13003	2203	4299	6502	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80197346G>A		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1469C>T	6.37:g.80197346G>A	ENSP00000376686:p.Pro490Leu					LCA5_uc003piy.2_Missense_Mutation_p.P490L	p.P490L	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	8	1904	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	490					E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.1469C>T	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241460	0.39598	2.27E-4	0.0	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.32753	1.44;1.44	5.61	4.7	0.59300	.	0.252557	0.34628	N	0.003814	T	0.37652	0.1011	L	0.56769	1.78	0.20196	N	0.999923	D	0.63880	0.993	P	0.61533	0.89	T	0.07177	-1.0786	10	0.59425	D	0.04	-12.8366	15.6911	0.77453	0.0:0.0:0.8634:0.1366	.	490	Q86VQ0	LCA5_HUMAN	L	490	ENSP00000358861:P490L;ENSP00000376686:P490L	ENSP00000358861:P490L	P	-	2	0	LCA5	80254065	1.000000	0.71417	0.342000	0.25602	0.048000	0.14542	3.853000	0.55941	2.807000	0.96579	0.591000	0.81541	CCA		0.383	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1		NM_181714		66	108	0	0	0	0.01441	0	66	108		
SSPO	23145	broad.mit.edu	37	7	149489805	149489805	+	RNA	SNP	G	G	A	rs377366184		TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr7:149489805G>A	ENST00000378016.2	+	0	5861							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCATCCACCGCAAGGCACGC	0.687																																						uc010lpk.2		NaN																	0					0						c.(5860-5862)CGC>CAC		SCO-spondin precursor		G		1,4079		0,1,2039	14.0	20.0	18.0		5865	4.3	1.0	7		18	0,8320		0,0,4160	no	coding-notMod3	SSPO	NM_198455.2		0,1,6199	AA,AG,GG		0.0,0.0245,0.0081			149489805	1,12399	2040	4160	6200			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149489805G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149489805G>A							p.R1954H	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		39	5861	+	Melanoma(164;0.165)|Ovarian(565;0.177)		1954			TSP type-1 3.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.5861G>A																																																																																					0.687	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript					13	15	0	0	0	0.016723	0	13	15		
TNKS	8658	broad.mit.edu	37	8	9584174	9584174	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr8:9584174G>A	ENST00000310430.6	+	13	1971	c.1945G>A	c.(1945-1947)Gat>Aat	p.D649N	TNKS_ENST00000518281.1_Missense_Mutation_p.D412N	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	649					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ACGTACTTCTGATGTTGATTA	0.363																																						uc003wss.2		NaN																	0				lung(4)|ovary(2)|kidney(1)	7						c.(1945-1947)GAT>AAT		tankyrase, TRF1-interacting ankyrin-related							257.0	262.0	260.0					8																	9584174		2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9584174G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.1945G>A	8.37:g.9584174G>A	ENSP00000311579:p.Asp649Asn					TNKS_uc011kww.1_Missense_Mutation_p.D412N|TNKS_uc010lrs.1_RNA	p.D649N	NM_003747	NP_003738	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	13	1950	+			649					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.1945G>A	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	35	5.458941	0.96240	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.66099	-0.19;-0.11	5.48	5.48	0.80851	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.70281	0.3206	L	0.61218	1.895	0.80722	D	1	P	0.45672	0.864	P	0.48982	0.597	T	0.69910	-0.5017	10	0.45353	T	0.12	.	19.7133	0.96105	0.0:0.0:1.0:0.0	.	649	O95271	TNKS1_HUMAN	N	649;412	ENSP00000311579:D649N;ENSP00000429890:D412N	ENSP00000311579:D649N	D	+	1	0	TNKS	9621584	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.568000	0.98166	2.725000	0.93324	0.655000	0.94253	GAT		0.363	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1		NM_003747		70	119	0	0	0	0.01441	0	70	119		
UNC5D	137970	broad.mit.edu	37	8	35608269	35608269	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr8:35608269A>G	ENST00000404895.2	+	13	2433	c.2105A>G	c.(2104-2106)aAc>aGc	p.N702S	UNC5D_ENST00000287272.2_Missense_Mutation_p.N633S|UNC5D_ENST00000449677.1_Missense_Mutation_p.N278S|UNC5D_ENST00000420357.1_Missense_Mutation_p.N635S|UNC5D_ENST00000416672.1_Missense_Mutation_p.N707S|UNC5D_ENST00000453357.2_Missense_Mutation_p.N697S	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	702					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ATGTCCTGTAACTCCCTGGAT	0.463																																						uc003xjr.1		NaN																	0				upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(2104-2106)AAC>AGC		unc-5 homolog D precursor							229.0	196.0	207.0					8																	35608269		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35608269A>G	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2105A>G	8.37:g.35608269A>G	ENSP00000385143:p.Asn702Ser					UNC5D_uc003xjs.1_Missense_Mutation_p.N697S|UNC5D_uc003xju.1_Missense_Mutation_p.N278S	p.N702S	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	13	2433	+			702			Cytoplasmic (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.2105A>G	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	A	10.67	1.416525	0.25552	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.50813	0.76;1.22;1.22;0.76;0.73;2.67	5.9	5.9	0.94986	.	0.220757	0.53938	D	0.000041	T	0.26268	0.0641	N	0.04162	-0.26	0.43835	D	0.996411	B;B;B	0.23128	0.08;0.018;0.029	B;B;B	0.20384	0.023;0.029;0.013	T	0.17349	-1.0372	10	0.10111	T	0.7	-21.7999	16.3317	0.83023	1.0:0.0:0.0:0.0	.	278;697;702	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	S	702;635;633;707;697;278	ENSP00000385143:N702S;ENSP00000392739:N635S;ENSP00000287272:N633S;ENSP00000412652:N707S;ENSP00000394303:N697S;ENSP00000397211:N278S	ENSP00000287272:N633S	N	+	2	0	UNC5D	35727811	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.597000	0.61062	2.264000	0.75181	0.533000	0.62120	AAC		0.463	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2				66	114	0	0	0	0.01441	0	66	114		
PXDNL	137902	broad.mit.edu	37	8	52321370	52321370	+	Silent	SNP	T	T	C			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr8:52321370T>C	ENST00000356297.4	-	17	2914	c.2814A>G	c.(2812-2814)acA>acG	p.T938T	PXDNL_ENST00000543296.1_Silent_p.T938T	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	938					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGGGTGGGCCTGTAGAAAAGG	0.647																																						uc003xqu.3		NaN																	0				ovary(1)|pancreas(1)	2						c.(2812-2814)ACA>ACG		peroxidasin homolog-like precursor							18.0	21.0	20.0					8																	52321370		1940	4141	6081	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321370T>C		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2814A>G	8.37:g.52321370T>C						PXDNL_uc003xqt.3_RNA	p.T938T	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	2915	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	938					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.2814A>G	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	T	0.045	-1.268136	0.01433	.	.	ENSG00000147485	ENST00000522933	.	.	.	3.8	-4.0	0.04057	.	.	.	.	.	T	0.49677	0.1571	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45789	-0.9237	4	.	.	.	.	6.9087	0.24323	0.1586:0.5713:0.0:0.2701	.	.	.	.	R	57	.	.	Q	-	2	0	PXDNL	52483923	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.879000	0.00344	-0.906000	0.03866	-0.290000	0.09829	CAG		0.647	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1		NM_144651		9	39	0	0	0	0.006214	0	9	39		
HAS2	3037	broad.mit.edu	37	8	122626355	122626355	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr8:122626355A>T	ENST00000303924.4	-	4	2190	c.1653T>A	c.(1651-1653)gaT>gaA	p.D551E		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	551					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AAGATCATACATCAAGCACCA	0.443																																						uc003yph.2		NaN																HAS2/PLAG1(10)	0				soft_tissue(10)|ovary(5)	15						c.(1651-1653)GAT>GAA		hyaluronan synthase 2							214.0	174.0	187.0					8																	122626355		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122626355A>T	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1653T>A	8.37:g.122626355A>T	ENSP00000306991:p.Asp551Glu						p.D551E	NM_005328	NP_005319	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		4	2191	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		551			Extracellular (Potential).		Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.1653T>A	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.580532	0.46006	.	.	ENSG00000170961	ENST00000303924	T	0.49139	0.79	6.17	1.19	0.21007	.	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	N	0.08118	0	0.58432	D	0.999996	P	0.52463	0.953	D	0.65443	0.935	T	0.34900	-0.9810	10	0.46703	T	0.11	-23.8417	11.2364	0.48942	0.6344:0.0:0.3656:0.0	.	551	Q92819	HAS2_HUMAN	E	551	ENSP00000306991:D551E	ENSP00000306991:D551E	D	-	3	2	HAS2	122695536	0.753000	0.28349	0.998000	0.56505	0.888000	0.51559	0.025000	0.13577	-0.017000	0.14103	-0.250000	0.11733	GAT		0.443	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2		NM_005328		52	135	0	0	0	0.01441	0	52	135		
ATAD2	29028	broad.mit.edu	37	8	124382167	124382167	+	Missense_Mutation	SNP	A	A	T	rs149531312	byFrequency	TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr8:124382167A>T	ENST00000287394.5	-	7	932	c.825T>A	c.(823-825)gaT>gaA	p.D275E	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	275	Asp-rich.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			cttcatcatcatcatcatcat	0.378													A|||	11	0.00219649	0.0008	0.0043	5008	,	,		17887	0.002		0.002	False		,,,				2504	0.0031					uc003yqh.3		NaN																	0				ovary(2)	2						c.(823-825)GAT>GAA		ATPase family, AAA domain containing 2		A	GLU/ASP	10,4396	11.4+/-27.6	0,10,2193	257.0	196.0	216.0		825	-2.7	0.1	8	dbSNP_134	216	4,8596	3.7+/-12.6	0,4,4296	no	missense	ATAD2	NM_014109.3	45	0,14,6489	TT,TA,AA		0.0465,0.227,0.1076	benign	275/1391	124382167	14,12992	2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124382167A>T	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.825T>A	8.37:g.124382167A>T	ENSP00000287394:p.Asp275Glu					ATAD2_uc011lii.1_Missense_Mutation_p.D66E|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.D275E	p.D275E	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		7	933	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		275			Asp-rich.		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.825T>A	CCDS6343.1	6	0.0027472527472527475	5	0.01016260162601626	0	0.0	1	0.0017482517482517483	0	0.0	A	0	-2.611228	0.00120	0.00227	4.65E-4	ENSG00000156802	ENST00000287394	T	0.25912	1.77	1.38	-2.69	0.06022	.	1.170220	0.05820	N	0.615542	T	0.08492	0.0211	L	0.29908	0.895	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.50398	-0.8833	10	0.02654	T	1	.	1.3801	0.02228	0.3901:0.0:0.2745:0.3354	.	105;275	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	E	275	ENSP00000287394:D275E	ENSP00000287394:D275E	D	-	3	2	ATAD2	124451348	0.985000	0.35326	0.093000	0.20910	0.064000	0.16182	-0.967000	0.03821	-0.205000	0.10219	0.402000	0.26972	GAT		0.378	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2		NM_014109		9	31	0	0	0	0.004482	0	9	31		
ATAD2	29028	broad.mit.edu	37	8	124382176	124382176	+	Silent	SNP	A	A	G	rs148244463	byFrequency	TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr8:124382176A>G	ENST00000287394.5	-	7	923	c.816T>C	c.(814-816)gaT>gaC	p.D272D	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	272	Asp-rich.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			catcatcatcatcatcatcgt	0.363													A|||	12	0.00239617	0.0015	0.0043	5008	,	,		17980	0.002		0.002	False		,,,				2504	0.0031					uc003yqh.3		NaN																	0				ovary(2)	2						c.(814-816)GAT>GAC		ATPase family, AAA domain containing 2		A		3,4403	4.2+/-10.8	0,3,2200	251.0	191.0	211.0		816	0.8	0.1	8	dbSNP_134	211	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATAD2	NM_014109.3		0,4,6499	GG,GA,AA		0.0116,0.0681,0.0308		272/1391	124382176	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124382176A>G	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.816T>C	8.37:g.124382176A>G						ATAD2_uc011lii.1_Silent_p.D63D|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Silent_p.D272D	p.D272D	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		7	924	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		272			Asp-rich.		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Silent	SNP	ENST00000287394.5	37	c.816T>C	CCDS6343.1																																																																																				0.363	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2		NM_014109		8	29	0	0	0	0.004482	0	8	29		
ATAD2	29028	broad.mit.edu	37	8	124382194	124382194	+	Missense_Mutation	SNP	A	A	T	rs140021846		TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr8:124382194A>T	ENST00000287394.5	-	7	905	c.798T>A	c.(796-798)gaT>gaA	p.D266E	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	266	Asp-rich.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			cgtcatcatcatcatcatctt	0.368																																						uc003yqh.3		NaN																	0				ovary(2)	2						c.(796-798)GAT>GAA		ATPase family, AAA domain containing 2							225.0	174.0	191.0					8																	124382194		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124382194A>T	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.798T>A	8.37:g.124382194A>T	ENSP00000287394:p.Asp266Glu					ATAD2_uc011lii.1_Missense_Mutation_p.D57E|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.D266E	p.D266E	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		7	906	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		266			Asp-rich.		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.798T>A	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	A	0.043	-1.278079	0.01410	.	.	ENSG00000156802	ENST00000287394	T	0.23147	1.92	2.29	-4.58	0.03410	.	2.035910	0.03082	N	0.158671	T	0.15565	0.0375	L	0.29908	0.895	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.51419	-0.8708	10	0.02654	T	1	.	9.8543	0.41077	0.778:0.0:0.0:0.222	.	96;266	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	E	266	ENSP00000287394:D266E	ENSP00000287394:D266E	D	-	3	2	ATAD2	124451375	0.012000	0.17670	0.002000	0.10522	0.009000	0.06853	-2.372000	0.01073	-1.107000	0.03004	-0.302000	0.09304	GAT		0.368	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2		NM_014109		4	42	0	0	0	0.014758	0	4	42		
COL22A1	169044	broad.mit.edu	37	8	139606274	139606274	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr8:139606274G>A	ENST00000303045.6	-	63	5047	c.4601C>T	c.(4600-4602)cCc>cTc	p.P1534L	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1514L|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1534	Collagen-like 15.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGACCTATGGGTCCAGAGGG	0.652										HNSCC(7;0.00092)																												uc003yvd.2		NaN																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(4600-4602)CCC>CTC		collagen, type XXII, alpha 1							42.0	43.0	43.0					8																	139606274		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139606274G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4601C>T	8.37:g.139606274G>A	ENSP00000303153:p.Pro1534Leu	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.P814L	p.P1534L	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		63	5048	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1534			Pro-rich.|Gly-rich.|Collagen-like 15.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4601C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444105	0.63067	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93712	-3.27;-3.27	5.92	5.92	0.95590	.	0.000000	0.49916	D	0.000132	D	0.92854	0.7727	N	0.17474	0.49	0.80722	D	1	B;D	0.89917	0.054;1.0	B;D	0.91635	0.273;0.999	D	0.88192	0.2878	10	0.07175	T	0.84	.	19.3538	0.94402	0.0:0.0:1.0:0.0	.	1514;1534	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	L	1534;1514;1227	ENSP00000303153:P1534L;ENSP00000387655:P1514L	ENSP00000303153:P1534L	P	-	2	0	COL22A1	139675456	1.000000	0.71417	0.967000	0.41034	0.973000	0.67179	9.430000	0.97488	2.820000	0.97059	0.650000	0.86243	CCC		0.652	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2		XM_291257		35	70	0	0	0	0.019004	0	35	70		
NFIL3	4783	broad.mit.edu	37	9	94172665	94172665	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr9:94172665C>G	ENST00000297689.3	-	2	746	c.352G>C	c.(352-354)Gag>Cag	p.E118Q		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	118	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						GAAAGCAGCTCAGCTTTTAAA	0.393																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	uc004arh.2		NaN																	0					0						c.(352-354)GAG>CAG		nuclear factor, interleukin 3 regulated							119.0	126.0	124.0					9																	94172665		2203	4300	6503	SO:0001583	missense	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172665C>G	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.352G>C	9.37:g.94172665C>G	ENSP00000297689:p.Glu118Gln						p.E118Q	NM_005384	NP_005375	Q16649	NFIL3_HUMAN			2	747	-			118			Leucine-zipper.		B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP	ENST00000297689.3	37	c.352G>C	CCDS6690.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451345	0.84209	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	T	0.43688	0.94	5.03	5.03	0.67393	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.64402	D	0.000001	T	0.60996	0.2312	L	0.52823	1.66	0.80722	D	1	D	0.57899	0.981	D	0.72338	0.977	T	0.59295	-0.7481	10	0.46703	T	0.11	-35.6671	18.5536	0.91075	0.0:1.0:0.0:0.0	.	118	Q16649	NFIL3_HUMAN	Q	118	ENSP00000297689:E118Q	ENSP00000297689:E118Q	E	-	1	0	NFIL3	93212486	1.000000	0.71417	0.832000	0.32986	0.978000	0.69477	7.213000	0.77950	2.622000	0.88805	0.561000	0.74099	GAG		0.393	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2		NM_005384		63	102	0	0	0	0.01441	0	63	102		
SVEP1	79987	broad.mit.edu	37	9	113173859	113173859	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr9:113173859G>C	ENST00000401783.2	-	37	6468	c.6132C>G	c.(6130-6132)ttC>ttG	p.F2044L	SVEP1_ENST00000297826.5_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.F2021L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2044	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGCAGTAGTAGAATGCAATGT	0.557																																						uc010mtz.2		NaN																	0				ovary(7)	7						c.(6130-6132)TTC>TTG		polydom							47.0	48.0	48.0					9																	113173859		1957	4146	6103	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113173859G>C	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.6132C>G	9.37:g.113173859G>C	ENSP00000384917:p.Phe2044Leu					SVEP1_uc010mty.2_5'UTR	p.F2044L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			37	6469	-			2044			Sushi 11.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.6132C>G	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	9.207	1.029978	0.19512	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.63913	-0.07;-0.07	5.98	3.8	0.43715	Complement control module (2);Sushi/SCR/CCP (3);	0.322809	0.37095	N	0.002255	T	0.41971	0.1182	N	0.19112	0.55	0.80722	D	1	B	0.16396	0.017	B	0.21360	0.034	T	0.20042	-1.0287	10	0.11182	T	0.66	.	9.8195	0.40874	0.2744:0.0:0.7256:0.0	.	2044	Q4LDE5	SVEP1_HUMAN	L	2044;2021	ENSP00000384917:F2044L;ENSP00000363593:F2021L	ENSP00000363593:F2021L	F	-	3	2	SVEP1	112213680	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	2.384000	0.44362	1.515000	0.48885	0.591000	0.81541	TTC		0.557	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					15	27	0	0	0	0.024245	0	15	27		
ZMYM3	9203	broad.mit.edu	37	X	70471085	70471085	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chrX:70471085C>A	ENST00000353904.2	-	4	908	c.721G>T	c.(721-723)Gag>Tag	p.E241*	ZMYM3_ENST00000314425.5_Nonsense_Mutation_p.E241*|ZMYM3_ENST00000373988.1_Nonsense_Mutation_p.E243*|ZMYM3_ENST00000373982.1_Nonsense_Mutation_p.E243*|ZMYM3_ENST00000373981.1_Nonsense_Mutation_p.E241*|ZMYM3_ENST00000373978.1_Nonsense_Mutation_p.E243*|ZMYM3_ENST00000373984.3_Nonsense_Mutation_p.E243*|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373998.1_Nonsense_Mutation_p.E241*	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	241					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTAACGCGCTCGCTTCTCTTC	0.527																																						uc004dzh.1		NaN																	0				ovary(1)	1						c.(721-723)GAG>TAG		zinc finger protein 261							121.0	101.0	108.0					X																	70471085		2203	4300	6503	SO:0001587	stop_gained	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70471085C>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.721G>T	X.37:g.70471085C>A	ENSP00000343909:p.Glu241*					BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Nonsense_Mutation_p.E241*|ZMYM3_uc004dzj.1_Nonsense_Mutation_p.E241*|ZMYM3_uc011mpu.1_5'UTR|ZMYM3_uc004dzk.3_Nonsense_Mutation_p.E241*|ZMYM3_uc004dzl.3_Nonsense_Mutation_p.E241*|ZMYM3_uc004dzm.3_Nonsense_Mutation_p.E241*	p.E241*	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			4	808	-	Renal(35;0.156)		241					D3DVV3|O15089|Q96E26	Nonsense_Mutation	SNP	ENST00000353904.2	37	c.721G>T	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	37	6.342214	0.97489	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	.	.	.	4.5	4.5	0.54988	.	0.103218	0.42294	D	0.000733	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-18.0659	16.6057	0.84828	0.0:1.0:0.0:0.0	.	.	.	.	X	241;241;241;243;243;243;241;243	.	ENSP00000322845:E241X	E	-	1	0	ZMYM3	70387810	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.894000	0.63206	2.091000	0.63221	0.519000	0.50382	GAG		0.527	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1		NM_201599		32	8	1	0	1.99505e-19	0.012213	2.18282e-19	32	8		
MAGT1	84061	broad.mit.edu	37	X	77112890	77112890	+	Silent	SNP	C	C	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chrX:77112890C>T	ENST00000358075.6	-	4	677	c.591G>A	c.(589-591)caG>caA	p.Q197Q		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	165					cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						ACCGGGCAATCTGCTCAGCTG	0.463																																						uc004fof.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(589-591)CAG>CAA		magnesium transporter 1							184.0	167.0	173.0					X																	77112890		2203	4296	6499	SO:0001819	synonymous_variant	84061				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chrX:77112890C>T		CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000358075.6:c.591G>A	X.37:g.77112890C>T						MAGT1_uc004fog.3_Intron	p.Q197Q	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN			4	653	-			165					B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Silent	SNP	ENST00000358075.6	37	c.591G>A	CCDS14436.2																																																																																				0.463	MAGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057301.2		NM_032121		75	19	0	0	0	0.01441	0	75	19		
DIAPH2	1730	broad.mit.edu	37	X	96354743	96354743	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chrX:96354743G>C	ENST00000324765.8	+	20	2645	c.2298G>C	c.(2296-2298)gaG>gaC	p.E766D	DIAPH2_ENST00000373054.4_Missense_Mutation_p.E762D|DIAPH2_ENST00000373049.4_Missense_Mutation_p.E766D|DIAPH2_ENST00000355827.4_Missense_Mutation_p.E766D|DIAPH2_ENST00000373061.3_Missense_Mutation_p.E766D			O60879	DIAP2_HUMAN	diaphanous-related formin 2	766	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AATTAGCAGAGCTTAAGAATG	0.358																																						uc004efu.3		NaN																	0				ovary(3)|lung(1)	4						c.(2296-2298)GAG>GAC		diaphanous 2 isoform 156							113.0	92.0	99.0					X																	96354743		2203	4300	6503	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96354743G>C	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.2298G>C	X.37:g.96354743G>C	ENSP00000321348:p.Glu766Asp					DIAPH2_uc004eft.3_Missense_Mutation_p.E766D	p.E766D	NM_006729	NP_006720	O60879	DIAP2_HUMAN			20	2694	+			766			FH2.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.2298G>C	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	G	8.532	0.871199	0.17322	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.21	2.47	0.30058	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.440020	0.19888	N	0.103797	T	0.30603	0.0770	L	0.33710	1.025	0.29227	N	0.873531	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.003	T	0.21042	-1.0257	10	0.49607	T	0.09	.	9.6039	0.39622	0.2494:0.0:0.7506:0.0	.	766;766	O60879;O60879-2	DIAP2_HUMAN;.	D	766;762;766;766;766;773	ENSP00000362152:E766D;ENSP00000362145:E762D;ENSP00000348082:E766D;ENSP00000362140:E766D;ENSP00000321348:E766D	ENSP00000321348:E766D	E	+	3	2	DIAPH2	96241399	0.064000	0.20934	0.739000	0.30968	0.288000	0.27193	0.203000	0.17315	0.421000	0.25980	-0.176000	0.13171	GAG		0.358	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2		NM_006729, NM_007309		22	4	0	0	0	0.01892	0	22	4		
PAK3	5063	broad.mit.edu	37	X	110439847	110439847	+	Silent	SNP	C	C	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chrX:110439847C>T	ENST00000372010.1	+	17	1873	c.1431C>T	c.(1429-1431)taC>taT	p.Y477Y	PAK3_ENST00000518291.1_Silent_p.Y498Y|PAK3_ENST00000446737.1_Silent_p.Y462Y|PAK3_ENST00000360648.4_Silent_p.Y498Y|PAK3_ENST00000425146.1_Silent_p.Y462Y|PAK3_ENST00000519681.1_Silent_p.Y483Y|PAK3_ENST00000372007.5_Silent_p.Y462Y|PAK3_ENST00000417227.1_Silent_p.Y483Y|PAK3_ENST00000262836.4_Silent_p.Y477Y			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	477	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AACCCCCTTACCTTAATGAAA	0.438										TSP Lung(19;0.15)																												uc004epa.2		NaN																	0				lung(6)|ovary(3)|large_intestine(1)	10						c.(1429-1431)TAC>TAT		p21-activated kinase 3 isoform d							82.0	79.0	80.0					X																	110439847		2203	4300	6503	SO:0001819	synonymous_variant	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110439847C>T	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.1431C>T	X.37:g.110439847C>T		TSP Lung(19;0.15)				PAK3_uc010npt.1_Silent_p.Y462Y|PAK3_uc010npu.1_Silent_p.Y462Y|PAK3_uc004eoy.1_Silent_p.Y217Y|PAK3_uc004eoz.2_Silent_p.Y462Y|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Silent_p.Y498Y|PAK3_uc010npw.1_Silent_p.Y483Y	p.Y477Y	NM_001128173	NP_001121645	O75914	PAK3_HUMAN			13	1458	+			477			Protein kinase.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Silent	SNP	ENST00000372010.1	37	c.1431C>T	CCDS48153.1																																																																																				0.438	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1		NM_002578		21	43	0	0	0	0.014323	0	21	43		
MAGEA12	4111	broad.mit.edu	37	X	151900051	151900051	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chrX:151900051C>G	ENST00000357916.4	-	2	905	c.750G>C	c.(748-750)ttG>ttC	p.L250F	MAGEA12_ENST00000393900.3_Missense_Mutation_p.L250F|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.L250F	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	250	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTGCACCAAATCTTGGG	0.567																																						uc010ntp.2		NaN																	0				skin(1)	1						c.(748-750)TTG>TTC		melanoma antigen family A, 12							151.0	146.0	147.0					X																	151900051		2203	4300	6503	SO:0001583	missense	4111							g.chrX:151900051C>G		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.750G>C	X.37:g.151900051C>G	ENSP00000350592:p.Leu250Phe					MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.L250F	p.L250F	NM_005367	NP_005358	P43365	MAGAC_HUMAN			3	1104	-	Acute lymphoblastic leukemia(192;6.56e-05)		250			MAGE.		Q9NSD3	Missense_Mutation	SNP	ENST00000357916.4	37	c.750G>C	CCDS14710.1	.	.	.	.	.	.	.	.	.	.	C	0.567	-0.842661	0.02671	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.09350	2.99;2.99;2.99	0.809	-0.789	0.10935	.	0.390050	0.31020	N	0.008417	T	0.04907	0.0132	N	0.17564	0.495	0.09310	N	1	B	0.06786	0.001	B	0.16289	0.015	T	0.36648	-0.9739	9	0.24483	T	0.36	.	.	.	.	.	250	P43365	MAGAC_HUMAN	F	250	ENSP00000350592:L250F;ENSP00000377447:L250F;ENSP00000377478:L250F	ENSP00000350592:L250F	L	-	3	2	MAGEA12	151650707	0.002000	0.14202	0.007000	0.13788	0.017000	0.09413	-0.163000	0.09997	-0.289000	0.09038	0.181000	0.17075	TTG		0.567	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1		NM_005367		32	104	0	0	0	0.041601	0	32	104		
EPHA2	1969	broad.mit.edu	37	1	16477440	16477440	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr1:16477440delG	ENST00000358432.5	-	2	258	c.104delC	c.(103-105)gctfs	p.A37fs	EPHA2_ENST00000461614.1_Intron	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	37	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Mediates interaction with CLDN4.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	TCCAGCTGCAGCAAAGTCCAG	0.607																																						uc001aya.1		NaN																	0				lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10						c.(103-105)GCTfs		ephrin receptor EphA2 precursor	Dasatinib(DB01254)						96.0	95.0	95.0					1																	16477440		2203	4300	6503	SO:0001589	frameshift_variant	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16477440delG	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.104delC	1.37:g.16477440delG	ENSP00000351209:p.Ala37fs					EPHA2_uc010oca.1_Frame_Shift_Del_p.A35fs	p.A35fs	NM_004431	NP_004422	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	2	241	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	35			Extracellular (Potential).		B5A968|Q8N3Z2	Frame_Shift_Del	DEL	ENST00000358432.5	37	c.104delC	CCDS169.1																																																																																				0.607	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1		NM_004431		57	39	NaN	NaN	NaN	NaN	NaN	57	39	---	---
MUC5B	727897	broad.mit.edu	37	11	1276413	1276414	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr11:1276413_1276414insG	ENST00000529681.1	+	36	15865_15866	c.15807_15808insG	c.(15808-15810)gccfs	p.A5270fs	MUC5B_ENST00000447027.1_Frame_Shift_Ins_p.A5273fs	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5270	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCCCCACTGCCAGCCCCGC	0.673																																						uc009ycr.1		NaN																	0					0						c.(16816-16821)ACTGCCfs		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;																																				SO:0001589	frameshift_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1276413_1276414insG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15808dupG	11.37:g.1276414_1276414dupG	ENSP00000436812:p.Ala5270fs					MUC5B_uc001ltb.2_Frame_Shift_Ins_p.T5272fs	p.T5606fs	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	58	16944_16945	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	5269_5270			VWFD 4.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Frame_Shift_Ins	INS	ENST00000529681.1	37	c.16818_16819insG	CCDS44515.2																																																																																				0.673	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2		XM_001126093		4	2	NaN	NaN	NaN	NaN	NaN	4	2	---	---
KMT2D	8085	broad.mit.edu	37	12	49420990	49421006	+	Frame_Shift_Del	DEL	GGGGAAGGGGGCGGGGA	GGGGAAGGGGGCGGGGA	-	rs587778485|rs529656123		TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr12:49420990_49421006delGGGGAAGGGGGCGGGGA	ENST00000301067.7	-	48	14742_14758	c.14743_14759delTCCCCGCCCCCTTCCCC	c.(14743-14760)tccccgcccccttcccccfs	p.SPPPSP4915fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4915	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P4916P(1)|p.P4646P(1)									AGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCA	0.641																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		2	Substitution - coding silent(2)		endometrium(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(14743-14760)TCCCCGCCCCCTTCCCCCfs		myeloid/lymphoid or mixed-lineage leukemia 2																																				SO:0001589	frameshift_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49420990_49421006delGGGGAAGGGGGCGGGGA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14743_14759delTCCCCGCCCCCTTCCCC	12.37:g.49420990_49421006delGGGGAAGGGGGCGGGGA	ENSP00000301067:p.Ser4915fs	HNSCC(34;0.089)					p.S4915fs	NM_003482	NP_003473	O14686	MLL2_HUMAN			48	14743_14759	-			4915_4920			Pro-rich.		O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.14743_14759delTCCCCGCCCCCTTCCCC	CCDS44873.1																																																																																				0.641	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				48	52	NaN	NaN	NaN	NaN	NaN	48	52	---	---
PRR12	57479	broad.mit.edu	37	19	50117814	50117814	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr19:50117814delC	ENST00000418929.2	+	7	4810	c.4798delC	c.(4798-4800)cccfs	p.P1602fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	781							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGGGCGTGAACCCCCACCCAT	0.612																																						uc002poo.3		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(4798-4800)CCCfs		proline rich 12							20.0	23.0	22.0					19																	50117814		2008	4128	6136	SO:0001589	frameshift_variant	57479						DNA binding	g.chr19:50117814delC	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.4798delC	19.37:g.50117814delC	ENSP00000394510:p.Pro1602fs						p.P1600fs	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	7	4798	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	779					E9PB06|Q8N4J6	Frame_Shift_Del	DEL	ENST00000418929.2	37	c.4798delC	CCDS46143.1																																																																																				0.612	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1		NM_020719		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
