#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_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PRAMEF1	65121	broad.mit.edu	37	1	12853573	12853573	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr1:12853573T>A	ENST00000332296.7	+	2	300	c.197T>A	c.(196-198)cTg>cAg	p.L66Q	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	66					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L66Q(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTCCCTCTGGGATCACTG	0.542																																						uc001auj.1																			2	Substitution - Missense(2)		lung(2)		0						c.(196-198)CTG>CAG		PRAME family member 1							100.0	106.0	104.0					1																	12853573		2203	4297	6500	SO:0001583	missense	65121							g.chr1:12853573T>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.197T>A	1.37:g.12853573T>A	ENSP00000332134:p.Leu66Gln						p.L66Q	NM_023013	NP_075389	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	300	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	66					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.197T>A	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	11.55	1.673267	0.29693	.	.	ENSG00000116721	ENST00000332296	T	0.15017	2.46	1.82	0.569	0.17340	.	0.297921	0.28296	N	0.015863	T	0.40670	0.1126	M	0.90595	3.13	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.16630	-1.0396	10	0.87932	D	0	.	4.5964	0.12332	0.0:0.0:0.3407:0.6593	.	66	O95521	PRAM1_HUMAN	Q	66	ENSP00000332134:L66Q	ENSP00000332134:L66Q	L	+	2	0	PRAMEF1	12776160	0.002000	0.14202	0.004000	0.12327	0.016000	0.09150	0.612000	0.24283	0.143000	0.18926	0.438000	0.28831	CTG		PASS	0.542	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		11	209	11	209	---	---	---	---
UROD	7389	broad.mit.edu	37	1	45479354	45479354	+	Missense_Mutation	SNP	G	G	A	rs111369324	byFrequency	TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr1:45479354G>A	ENST00000246337.4	+	5	484	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	HECTD3_ENST00000372172.4_5'Flank|UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	122					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	uroporphyrinogen decarboxylase activity (GO:0004853)	p.R122Q(1)		endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					GAACGCCTACGGGATCCAGAA	0.577									Porphyria Cutanea Tarda, Type II				G|||	6	0.00119808	0.0045	0.0	5008	,	,		18829	0.0		0.0	False		,,,				2504	0.0					uc001cna.1																			1	Substitution - Missense(1)		lung(1)		0						c.(364-366)CGG>CAG		uroporphyrinogen decarboxylase		G	GLN/ARG	22,4384	28.1+/-56.4	0,22,2181	78.0	71.0	73.0		365	2.1	0.9	1	dbSNP_132	73	1,8599	1.2+/-3.3	0,1,4299	yes	missense	UROD	NM_000374.4	43	0,23,6480	AA,AG,GG		0.0116,0.4993,0.1768	benign	122/368	45479354	23,12983	2203	4300	6503	SO:0001583	missense	7389	Porphyria_Cutanea_Tarda_Type_II	Familial Cancer Database	PCT-II		cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity	g.chr1:45479354G>A	BC001778	CCDS518.1	1p34	2012-10-02			ENSG00000126088	ENSG00000126088	4.1.1.37		12591	protein-coding gene	gene with protein product		613521				3015909, 3460962	Standard	NM_000374		Approved		uc001cna.2	P06132	OTTHUMG00000008949	ENST00000246337.4:c.365G>A	1.37:g.45479354G>A	ENSP00000246337:p.Arg122Gln					HECTD3_uc009vxk.2_5'Flank|HECTD3_uc010olh.1_5'Flank|UROD_uc010oli.1_3'UTR|UROD_uc001cnb.1_Missense_Mutation_p.R87Q|UROD_uc010olj.1_Missense_Mutation_p.R66Q|UROD_uc001cnc.1_Missense_Mutation_p.R27Q	p.R122Q	NM_000374	NP_000365	P06132	DCUP_HUMAN			5	473	+	Acute lymphoblastic leukemia(166;0.155)		122					A8K762|Q16863|Q16883|Q53YB8|Q53ZP6|Q6IB28|Q9BUZ0	Missense_Mutation	SNP	ENST00000246337.4	37	c.365G>A	CCDS518.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	9.220	1.033031	0.19590	0.004993	1.16E-4	ENSG00000126088	ENST00000246337;ENST00000434478;ENST00000372135;ENST00000372139	D;D	0.94280	-3.39;-3.39	4.99	2.08	0.27032	Uroporphyrinogen decarboxylase (URO-D) (1);	0.317747	0.34268	N	0.004106	D	0.84279	0.5437	N	0.16903	0.455	0.39682	D	0.970913	B;B	0.24823	0.112;0.068	B;B	0.18561	0.022;0.009	T	0.77122	-0.2704	10	0.32370	T	0.25	-36.5747	8.4386	0.32801	0.3664:0.0:0.6336:0.0	.	66;122	B4DEM5;P06132	.;DCUP_HUMAN	Q	122;101;101;115	ENSP00000246337:R122Q;ENSP00000404489:R101Q	ENSP00000246337:R122Q	R	+	2	0	UROD	45251941	0.996000	0.38824	0.892000	0.35008	0.875000	0.50365	1.191000	0.32138	0.706000	0.31912	0.655000	0.94253	CGG		PASS	0.577	UROD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024803.1	NM_000374		7	83	7	83	---	---	---	---
UBE2U	148581	broad.mit.edu	37	1	64669744	64669744	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr1:64669744G>A	ENST00000371076.3	+	1	255	c.11G>A	c.(10-12)aGa>aAa	p.R4K		NM_152489.1	NP_689702.1	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	4					protein ubiquitination (GO:0016567)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.R4K(1)		large_intestine(3)|lung(2)|skin(1)	6						ATGCACGGCAGAGCTTACCTC	0.473																																						uc001dbn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(10-12)AGA>AAA		ubiquitin-conjugating enzyme E2U (putative)							99.0	89.0	92.0					1																	64669744		2203	4300	6503	SO:0001583	missense	148581						ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr1:64669744G>A	BC029895	CCDS627.1	1p31.3	2008-02-05			ENSG00000177414	ENSG00000177414		"""Ubiquitin-conjugating enzymes E2"""	28559	protein-coding gene	gene with protein product						12477932	Standard	NM_152489		Approved	MGC35130	uc001dbn.1	Q5VVX9	OTTHUMG00000009023	ENST00000371076.3:c.11G>A	1.37:g.64669744G>A	ENSP00000360116:p.Arg4Lys						p.R4K	NM_152489	NP_689702	Q5VVX9	UBE2U_HUMAN			1	255	+			4					Q8N1D4	Missense_Mutation	SNP	ENST00000371076.3	37	c.11G>A	CCDS627.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934434	0.34096	.	.	ENSG00000177414	ENST00000371077;ENST00000371076	T;T	0.41400	1.0;1.0	4.93	4.0	0.46444	Ubiquitin-conjugating enzyme/RWD-like (2);	0.182934	0.38778	N	0.001566	T	0.12135	0.0295	L	0.31926	0.97	0.09310	N	1	B	0.23650	0.089	B	0.20577	0.03	T	0.14587	-1.0467	10	0.19147	T	0.46	.	9.0406	0.36316	0.1065:0.0:0.8935:0.0	.	4	Q5VVX9	UBE2U_HUMAN	K	4	ENSP00000360117:R4K;ENSP00000360116:R4K	ENSP00000360116:R4K	R	+	2	0	UBE2U	64442332	0.362000	0.24980	0.013000	0.15412	0.127000	0.20565	1.798000	0.38814	1.362000	0.46000	0.561000	0.74099	AGA		PASS	0.473	UBE2U-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025005.1	NM_152489		43	63	43	63	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70587550	70587550	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr1:70587550C>G	ENST00000035383.5	+	25	4624	c.4594C>G	c.(4594-4596)Caa>Gaa	p.Q1532E	LRRC7_ENST00000310961.5_Missense_Mutation_p.Q1490E|LRRC7_ENST00000415775.2_Missense_Mutation_p.Q816E	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1532	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.Q1532E(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCTAGTTATTCAACGTGAGCT	0.313																																						uc001dep.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(4594-4596)CAA>GAA		leucine rich repeat containing 7							91.0	94.0	93.0					1																	70587550		2203	4298	6501	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70587550C>G		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4594C>G	1.37:g.70587550C>G	ENSP00000035383:p.Gln1532Glu					LRRC7_uc009wbg.2_Missense_Mutation_p.Q816E|LRRC7_uc001deq.2_Missense_Mutation_p.Q726E	p.Q1532E	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			25	4624	+			1532			PDZ.		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.4594C>G	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.543577	0.27563	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.25579	1.79;1.79;1.79	5.26	5.26	0.73747	PDZ/DHR/GLGF (4);	0.073135	0.64402	D	0.000020	T	0.23094	0.0558	L	0.56199	1.76	0.38509	D	0.948417	P;P;P	0.48089	0.905;0.901;0.64	P;P;B	0.45881	0.457;0.496;0.389	T	0.01280	-1.1397	10	0.36615	T	0.2	.	19.2327	0.93846	0.0:1.0:0.0:0.0	.	816;1485;1532	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	E	1490;1532;816;1308	ENSP00000309245:Q1490E;ENSP00000035383:Q1532E;ENSP00000394867:Q816E	ENSP00000035383:Q1532E	Q	+	1	0	LRRC7	70360138	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.942000	0.56614	2.623000	0.88846	0.655000	0.94253	CAA		PASS	0.313	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		25	164	25	164	---	---	---	---
MAGI3	260425	broad.mit.edu	37	1	114184638	114184638	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr1:114184638C>T	ENST00000307546.9	+	10	1541	c.1466C>T	c.(1465-1467)aCt>aTt	p.T489I	MAGI3_ENST00000369611.4_Missense_Mutation_p.T489I|MAGI3_ENST00000369617.4_Missense_Mutation_p.T514I|MAGI3_ENST00000369615.1_Missense_Mutation_p.T489I	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	514	Interaction with PTEN.|PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)	p.T489I(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTAAACCTCACTTTATGTCGT	0.438																																						uc001edk.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|central_nervous_system(1)	6						c.(1465-1467)ACT>ATT		membrane-associated guanylate kinase-related  3							220.0	192.0	202.0					1																	114184638		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114184638C>T	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1466C>T	1.37:g.114184638C>T	ENSP00000304604:p.Thr489Ile					MAGI3_uc001edh.3_Missense_Mutation_p.T514I|MAGI3_uc001edi.3_Missense_Mutation_p.T489I|MAGI3_uc010owm.1_Missense_Mutation_p.T514I|MAGI3_uc001edj.2_Missense_Mutation_p.T210I	p.T489I	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	1647	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	514			Interaction with PTEN.|PDZ 2.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.1466C>T	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064011	0.55432	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.37	5.37	0.77165	.	0.097021	0.64402	D	0.000001	T	0.40522	0.1120	L	0.37897	1.145	0.53005	D	0.999968	D;P;P	0.54964	0.969;0.841;0.753	P;B;B	0.53146	0.719;0.234;0.288	T	0.27502	-1.0072	10	0.59425	D	0.04	-6.1973	19.4797	0.95005	0.0:1.0:0.0:0.0	.	489;489;514	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	I	514;489;489;489	ENSP00000358630:T514I;ENSP00000304604:T489I;ENSP00000358628:T489I;ENSP00000358624:T489I	ENSP00000304604:T489I	T	+	2	0	MAGI3	113986161	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.353000	0.66034	2.684000	0.91462	0.650000	0.86243	ACT		PASS	0.438	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		7	159	7	159	---	---	---	---
ANKRD34A	284615	broad.mit.edu	37	1	145473733	145473733	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr1:145473733G>C	ENST00000323397.4	+	4	1698	c.405G>C	c.(403-405)aaG>aaC	p.K135N	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	135						cytoplasm (GO:0005737)		p.K135N(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACGCCTGCAAGGCCAAGGGTA	0.647																																						uc001enq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(403-405)AAG>AAC		ankyrin repeat domain 34							43.0	38.0	40.0					1																	145473733		2203	4300	6503	SO:0001583	missense	284615							g.chr1:145473733G>C	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.405G>C	1.37:g.145473733G>C	ENSP00000314103:p.Lys135Asn					NBPF10_uc001emp.3_Intron	p.K135N	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN			4	1698	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		135			ANK 4.		B3KSU3	Missense_Mutation	SNP	ENST00000323397.4	37	c.405G>C	CCDS30829.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809858	0.50421	.	.	ENSG00000181039	ENST00000323397	T	0.75260	-0.92	5.13	3.12	0.35913	Ankyrin repeat-containing domain (1);	0.179192	0.47455	N	0.000237	T	0.51787	0.1695	L	0.46614	1.455	0.42414	D	0.992619	P	0.47484	0.896	B	0.40506	0.331	T	0.60016	-0.7345	10	0.72032	D	0.01	-8.8674	7.4186	0.27059	0.0949:0.0:0.7337:0.1715	.	135	Q69YU3	AN34A_HUMAN	N	135	ENSP00000314103:K135N	ENSP00000314103:K135N	K	+	3	2	ANKRD34A	144185090	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.831000	0.27476	1.400000	0.46741	-0.325000	0.08501	AAG		PASS	0.647	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1			53	34	53	34	---	---	---	---
FAM63A	55793	broad.mit.edu	37	1	150970185	150970185	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr1:150970185A>T	ENST00000361936.5	-	10	2198	c.1244T>A	c.(1243-1245)cTg>cAg	p.L415Q	FAM63A_ENST00000361738.6_Missense_Mutation_p.L463Q|FAM63A_ENST00000470877.1_5'Flank|FAM63A_ENST00000312210.5_Missense_Mutation_p.L273Q|FAM63A_ENST00000493834.2_Missense_Mutation_p.L320Q	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	415	Gln-rich.					extracellular vesicular exosome (GO:0070062)		p.L415Q(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGCTGGGCCAGCTCCAAGTC	0.632																																						uc001ewf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1243-1245)CTG>CAG		hypothetical protein LOC55793 isoform 1							36.0	35.0	35.0					1																	150970185		2203	4300	6503	SO:0001583	missense	55793						protein binding	g.chr1:150970185A>T	BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.1244T>A	1.37:g.150970185A>T	ENSP00000354814:p.Leu415Gln					FAM63A_uc001ewc.2_Missense_Mutation_p.L273Q|FAM63A_uc010pcm.1_Missense_Mutation_p.L320Q|FAM63A_uc001ewd.2_Missense_Mutation_p.L273Q|FAM63A_uc001ewe.2_Missense_Mutation_p.L249Q|FAM63A_uc010pcn.1_Missense_Mutation_p.L463Q|FAM63A_uc001ewg.2_Missense_Mutation_p.L415Q	p.L415Q	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		10	2928	-	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		415			Gln-rich.		B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Missense_Mutation	SNP	ENST00000361936.5	37	c.1244T>A	CCDS976.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.4|25.4	4.630395|4.630395	0.87660|0.87660	.|.	.|.	ENSG00000143409|ENSG00000143409	ENST00000312210;ENST00000361936;ENST00000361738;ENST00000493834|ENST00000497067	T;T;T;T|.	0.55930|.	0.59;0.54;0.49;0.62|.	4.45|4.45	4.45|4.45	0.53987|0.53987	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.69735|0.69735	0.3144|0.3144	M|M	0.84511|0.84511	2.7|2.7	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.998|.	T|T	0.74228|0.74228	-0.3733|-0.3733	10|5	0.52906|.	T|.	0.07|.	-11.1976|-11.1976	11.78|11.78	0.52008|0.52008	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	463;415|.	Q8N5J2-3;Q8N5J2|.	.;FA63A_HUMAN|.	Q|R	273;415;463;320|54	ENSP00000310923:L273Q;ENSP00000354814:L415Q;ENSP00000354669:L463Q;ENSP00000437174:L320Q|.	ENSP00000310923:L273Q|.	L|W	-|-	2|1	0|0	FAM63A|FAM63A	149236809|149236809	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	8.465000|8.465000	0.90383|0.90383	1.885000|1.885000	0.54596|0.54596	0.529000|0.529000	0.55759|0.55759	CTG|TGG		PASS	0.632	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411753.1	NM_018379		32	32	32	32	---	---	---	---
GBA	2629	broad.mit.edu	37	1	155206051	155206051	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr1:155206051G>C	ENST00000327247.5	-	9	1441	c.1209C>G	c.(1207-1209)agC>agG	p.S403R	GBA_ENST00000536770.1_Missense_Mutation_p.S290R|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000427500.3_Missense_Mutation_p.S354R|GBA_ENST00000493842.1_5'Flank|GBA_ENST00000428024.3_Missense_Mutation_p.S316R|GBA_ENST00000368373.3_Missense_Mutation_p.S403R	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	403			S -> T (in GD; mild).		carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)	p.S403R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	TGATGCTGTGGCTGTACTGCA	0.562									Gaucher disease type I																													uc001fjh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1207-1209)AGC>AGG		glucocerebrosidase precursor	Alglucerase(DB00088)|Imiglucerase(DB00053)						63.0	50.0	54.0					1																	155206051		2203	4300	6503	SO:0001583	missense	2629	Gaucher_disease_type_I	Familial Cancer Database	glucocerebrosidase insufficiency	carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	g.chr1:155206051G>C	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.1209C>G	1.37:g.155206051G>C	ENSP00000314508:p.Ser403Arg					RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Missense_Mutation_p.S290R|GBA_uc010pfx.1_Missense_Mutation_p.S354R|GBA_uc001fji.2_Missense_Mutation_p.S403R|GBA_uc001fjj.2_Missense_Mutation_p.S403R|GBA_uc001fjk.2_Missense_Mutation_p.S403R|GBA_uc001fjl.2_Missense_Mutation_p.S403R|GBA_uc010pfy.1_Missense_Mutation_p.S316R	p.S403R	NM_000157	NP_000148	P04062	GLCM_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		8	1359	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		403		S -> T (in GD; mild).			A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP	ENST00000327247.5	37	c.1209C>G	CCDS1102.1	.	.	.	.	.	.	.	.	.	.	.	15.74	2.923024	0.52653	.	.	ENSG00000177628	ENST00000427500;ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000536555;ENST00000402928	D;D;D;D;D	0.99186	-5.53;-5.53;-5.53;-5.53;-5.53	3.57	1.63	0.23807	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.155487	0.44688	D	0.000432	D	0.98210	0.9408	M	0.66939	2.045	0.32864	D	0.50834	D;D;D	0.76494	0.996;0.999;0.999	D;D;D	0.76575	0.969;0.97;0.988	D	0.96451	0.9334	10	0.54805	T	0.06	.	4.9888	0.14203	0.2861:0.0:0.7139:0.0	.	354;290;403	B7Z5G2;F5H241;P04062	.;.;GLCM_HUMAN	R	354;316;403;403;290;360;388	ENSP00000402577:S354R;ENSP00000397986:S316R;ENSP00000357357:S403R;ENSP00000314508:S403R;ENSP00000445560:S290R	ENSP00000314508:S403R	S	-	3	2	GBA	153472675	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.821000	0.27338	0.811000	0.34303	0.484000	0.47621	AGC		PASS	0.562	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157		36	48	36	48	---	---	---	---
NTRK1	4914	broad.mit.edu	37	1	156845973	156845973	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr1:156845973G>T	ENST00000524377.1	+	13	1644	c.1603G>T	c.(1603-1605)Gag>Tag	p.E535*	NTRK1_ENST00000368196.3_Nonsense_Mutation_p.E529*|NTRK1_ENST00000358660.3_Nonsense_Mutation_p.E532*|NTRK1_ENST00000392302.2_Nonsense_Mutation_p.E499*	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	535	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E499*(1)|p.E535*(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CCTCCTGCCTGAGCAGGACAA	0.627			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												uc001fqh.1				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		2	Substitution - Nonsense(2)		lung(2)	lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17						c.(1603-1605)GAG>TAG		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						64.0	64.0	64.0					1																	156845973		2203	4300	6503	SO:0001587	stop_gained	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156845973G>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1603G>T	1.37:g.156845973G>T	ENSP00000431418:p.Glu535*	TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Nonsense_Mutation_p.E499*|NTRK1_uc009wsi.1_Nonsense_Mutation_p.E234*|NTRK1_uc001fqi.1_Nonsense_Mutation_p.E529*|NTRK1_uc009wsk.1_Nonsense_Mutation_p.E532*	p.E535*	NM_002529	NP_002520	P04629	NTRK1_HUMAN			13	1659	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		535			Cytoplasmic (Potential).|Protein kinase.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Nonsense_Mutation	SNP	ENST00000524377.1	37	c.1603G>T	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	G	38	6.654844	0.97739	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	.	.	.	5.03	4.1	0.47936	.	0.259476	0.28555	N	0.014930	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	13.0955	0.59188	0.0:0.1624:0.8376:0.0	.	.	.	.	X	499;529;535;532	.	ENSP00000351486:E532X	E	+	1	0	NTRK1	155112597	0.781000	0.28676	0.771000	0.31576	0.956000	0.61745	2.207000	0.42788	1.303000	0.44873	0.462000	0.41574	GAG		PASS	0.627	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		40	69	40	69	---	---	---	---
FCRL4	83417	broad.mit.edu	37	1	157555965	157555965	+	Silent	SNP	A	A	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr1:157555965A>C	ENST00000271532.1	-	6	1263	c.1128T>G	c.(1126-1128)acT>acG	p.T376T	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	376					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T376T(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CACCTCTCACAGTGACATTCA	0.483																																						uc001fqw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(1126-1128)ACT>ACG		Fc receptor-like 4 precursor							97.0	86.0	90.0					1																	157555965		2203	4300	6503	SO:0001819	synonymous_variant	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157555965A>C	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1128T>G	1.37:g.157555965A>C						FCRL4_uc010phy.1_RNA	p.T376T	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			6	1264	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	376			Extracellular (Potential).		Q96PJ3|Q96RE0	Silent	SNP	ENST00000271532.1	37	c.1128T>G	CCDS1166.1																																																																																				PASS	0.483	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		91	155	91	155	---	---	---	---
ACKR1	2532	broad.mit.edu	37	1	159175595	159175595	+	Missense_Mutation	SNP	C	C	A	rs563566546	byFrequency	TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr1:159175595C>A	ENST00000368122.2	+	2	1045	c.366C>A	c.(364-366)agC>agA	p.S122R	CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000537147.1_Missense_Mutation_p.S122R|DARC_ENST00000368121.2_Missense_Mutation_p.S124R	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		122					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.T123fs*3(1)|p.S124R(1)		large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GGCTAGGTAGCACTCGCAGCT	0.647													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20246	0.0		0.0	False		,,,				2504	0.0					uc001fto.2																			2	Substitution - Missense(1)|Deletion - Frameshift(1)		ovary(1)|lung(1)	ovary(1)|lung(1)	2						c.(364-366)AGC>AGA		Duffy blood group antigen isoform b							70.0	60.0	63.0					1																	159175595		2203	4300	6503	SO:0001583	missense	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159175595C>A																												ENST00000368122.2:c.366C>A	1.37:g.159175595C>A	ENSP00000357104:p.Ser122Arg					DARC_uc001ftp.3_Missense_Mutation_p.S124R	p.S122R	NM_002036	NP_002027	Q16570	DUFFY_HUMAN			2	606	+	all_hematologic(112;0.0429)		122			Extracellular (Potential).		A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	ENST00000368122.2	37	c.366C>A	CCDS1183.1	.	.	.	.	.	.	.	.	.	.	C	6.651	0.488548	0.12641	.	.	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000435307;ENST00000368121	T;T;T;T	0.36699	1.24;1.24;1.75;1.24	4.7	-9.4	0.00616	.	1.943450	0.03422	U	0.206494	T	0.09598	0.0236	L	0.38175	1.15	0.09310	N	1	B;B	0.28400	0.21;0.21	B;B	0.35607	0.206;0.134	T	0.25467	-1.0131	10	0.45353	T	0.12	-1.2734	2.7626	0.05311	0.1068:0.4168:0.2242:0.2522	.	124;122	Q5Y7A1;Q16570	.;DUFFY_HUMAN	R	122;122;122;124;124	ENSP00000357104:S122R;ENSP00000441985:S122R;ENSP00000398406:S124R;ENSP00000357103:S124R	ENSP00000352341:S122R	S	+	3	2	DARC	157442219	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.743000	0.00797	-1.894000	0.01105	0.561000	0.74099	AGC		PASS	0.647	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			55	85	55	85	---	---	---	---
NR1I3	9970	broad.mit.edu	37	1	161201164	161201164	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr1:161201164A>G	ENST00000367982.4	-	6	804	c.649T>C	c.(649-651)Ttc>Ctc	p.F217L	NR1I3_ENST00000428574.2_Missense_Mutation_p.F217L|NR1I3_ENST00000511676.1_Missense_Mutation_p.F188L|NR1I3_ENST00000505005.1_Missense_Mutation_p.F217L|NR1I3_ENST00000442691.2_Missense_Mutation_p.F217L|NR1I3_ENST00000437437.2_Missense_Mutation_p.F188L|NR1I3_ENST00000367981.3_Missense_Mutation_p.F188L|NR1I3_ENST00000508387.1_Silent_p.T84T|NR1I3_ENST00000367985.3_Missense_Mutation_p.F217L|NR1I3_ENST00000479324.1_5'Flank|NR1I3_ENST00000506209.1_Missense_Mutation_p.F188L|NR1I3_ENST00000504010.1_Missense_Mutation_p.F188L|NR1I3_ENST00000367984.4_Missense_Mutation_p.F217L|NR1I3_ENST00000515621.1_Missense_Mutation_p.F142L|NR1I3_ENST00000367983.4_Missense_Mutation_p.F217L|NR1I3_ENST00000512372.1_Missense_Mutation_p.F188L|NR1I3_ENST00000511748.1_Silent_p.T84T|NR1I3_ENST00000367979.2_Missense_Mutation_p.F217L|NR1I3_ENST00000367980.2_Missense_Mutation_p.F217L|NR1I3_ENST00000502985.1_Silent_p.T113T|NR1I3_ENST00000508740.1_Missense_Mutation_p.F188L|NR1I3_ENST00000412844.2_Missense_Mutation_p.F188L|NR1I3_ENST00000515452.1_Missense_Mutation_p.F217L|NR1I3_ENST00000511944.1_Silent_p.T113T			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	217					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.F217L(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCGCAGAGGAAGTTTTGTGTT	0.507																																						uc001fzx.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(649-651)TTC>CTC		constitutive androstane receptor isoform 2							139.0	133.0	135.0					1																	161201164		2203	4300	6503	SO:0001583	missense	9970				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr1:161201164A>G	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"""Nuclear hormone receptors"""	7969	protein-coding gene	gene with protein product	"""constitutive androstane receptor"""	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.649T>C	1.37:g.161201164A>G	ENSP00000356961:p.Phe217Leu					TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Missense_Mutation_p.F217L|NR1I3_uc001fzg.2_Missense_Mutation_p.F188L|NR1I3_uc001fzh.2_Missense_Mutation_p.F188L|NR1I3_uc001fzi.2_Missense_Mutation_p.F188L|NR1I3_uc001fzj.2_Missense_Mutation_p.F188L|NR1I3_uc001fzk.2_Missense_Mutation_p.F188L|NR1I3_uc001fzl.2_Missense_Mutation_p.F188L|NR1I3_uc001fzm.2_Missense_Mutation_p.F142L|NR1I3_uc001fzn.2_Missense_Mutation_p.F50L|NR1I3_uc009wug.2_Missense_Mutation_p.F50L|NR1I3_uc001fzp.2_Missense_Mutation_p.F217L|NR1I3_uc001fzo.2_Missense_Mutation_p.F50L|NR1I3_uc001fzq.2_Silent_p.T113T|NR1I3_uc001fzr.2_Silent_p.T113T|NR1I3_uc001fzs.2_Missense_Mutation_p.F50L|NR1I3_uc001fzt.2_Missense_Mutation_p.F50L|NR1I3_uc001fzu.2_Silent_p.T84T|NR1I3_uc001fzv.2_Silent_p.T84T|NR1I3_uc001fzw.2_Missense_Mutation_p.F217L|NR1I3_uc001fzy.2_Missense_Mutation_p.F217L|NR1I3_uc001fzz.2_Missense_Mutation_p.F217L|NR1I3_uc001gaa.2_Missense_Mutation_p.F217L|NR1I3_uc001gab.2_Missense_Mutation_p.F217L|NR1I3_uc001gac.2_Missense_Mutation_p.F188L|NR1I3_uc010pkm.1_Missense_Mutation_p.F188L|NR1I3_uc010pkn.1_Missense_Mutation_p.F217L	p.F217L	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		6	852	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		217					E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Missense_Mutation	SNP	ENST00000367982.4	37	c.649T>C	CCDS41430.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.980378	0.92982	.	.	ENSG00000143257	ENST00000512372;ENST00000367983;ENST00000367980;ENST00000437437;ENST00000442691;ENST00000412844;ENST00000428574;ENST00000505005;ENST00000508740;ENST00000367982;ENST00000504010;ENST00000511676;ENST00000367981;ENST00000515621;ENST00000367984;ENST00000367985;ENST00000367979;ENST00000506209;ENST00000515452	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47	5.87	5.87	0.94306	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.105542	0.64402	D	0.000002	D	0.93959	0.8066	L	0.46157	1.445	0.37328	D	0.909845	B;P;D;B;D;B;B;P;D;B;D;D;D;P;B;D;D;D	0.89917	0.243;0.712;1.0;0.04;0.985;0.04;0.256;0.712;1.0;0.133;0.992;0.985;1.0;0.523;0.239;0.998;0.996;0.999	B;P;D;B;P;B;B;P;D;B;D;P;D;B;B;D;D;D	0.87578	0.16;0.52;0.998;0.034;0.831;0.034;0.146;0.52;0.998;0.071;0.93;0.831;0.996;0.392;0.16;0.975;0.975;0.997	D	0.92277	0.5830	9	0.18710	T	0.47	.	12.6692	0.56858	1.0:0.0:0.0:0.0	.	217;188;188;217;217;217;217;217;217;217;142;188;188;188;188;188;188;217	B7Z8R7;E9PCF2;E9PHN4;Q6GZ85;E9PHC8;Q0VAC9;F1D8Q1;Q14994;E9PC13;Q4U0F0;D6REZ7;Q6GZ87;E9PDU3;Q6GZ68;E9PH10;Q6GZ84;E9PGH6;E9PB75	.;.;.;.;.;.;.;NR1I3_HUMAN;.;.;.;.;.;.;.;.;.;.	L	188;217;217;188;217;188;217;217;188;217;188;188;188;142;217;217;217;188;217	ENSP00000425417:F188L;ENSP00000356962:F217L;ENSP00000356959:F217L;ENSP00000407446:F188L;ENSP00000406493:F217L;ENSP00000399361:F188L;ENSP00000412672:F217L;ENSP00000424934:F217L;ENSP00000423666:F188L;ENSP00000356961:F217L;ENSP00000424345:F188L;ENSP00000427175:F188L;ENSP00000356960:F188L;ENSP00000421588:F142L;ENSP00000356963:F217L;ENSP00000356965:F217L;ENSP00000356958:F217L;ENSP00000423089:F188L;ENSP00000427034:F217L	ENSP00000356958:F217L	F	-	1	0	NR1I3	159467788	1.000000	0.71417	0.982000	0.44146	0.943000	0.58893	4.571000	0.60879	2.247000	0.74100	0.482000	0.46254	TTC		PASS	0.507	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2			78	141	78	141	---	---	---	---
ATF6	22926	broad.mit.edu	37	1	161928428	161928428	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr1:161928428C>A	ENST00000367942.3	+	16	2064	c.1997C>A	c.(1996-1998)cCt>cAt	p.P666H		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	666					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.P666H(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	AGCACCATCCCTGAGTCATTA	0.547																																						uc001gbr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1996-1998)CCT>CAT		activating transcription factor 6							116.0	114.0	115.0					1																	161928428		2203	4300	6503	SO:0001583	missense	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161928428C>A	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1997C>A	1.37:g.161928428C>A	ENSP00000356919:p.Pro666His					ATF6_uc001gbs.2_RNA	p.P666H	NM_007348	NP_031374	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		16	2064	+	all_hematologic(112;0.156)		666			Lumenal (Potential).		O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	c.1997C>A	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206761	0.58343	.	.	ENSG00000118217	ENST00000367942	T	0.15139	2.45	5.41	4.49	0.54785	.	0.306878	0.26251	N	0.025457	T	0.05502	0.0145	N	0.08118	0	0.29200	N	0.875263	D	0.63046	0.992	P	0.49708	0.62	T	0.09773	-1.0659	9	0.66056	D	0.02	-14.0981	6.2132	0.20642	0.1859:0.7222:0.0:0.092	.	666	P18850	ATF6A_HUMAN	H	666	ENSP00000356919:P666H	ENSP00000356919:P666H	P	+	2	0	ATF6	160195052	0.505000	0.26131	0.970000	0.41538	0.758000	0.43043	1.940000	0.40223	2.540000	0.85666	0.650000	0.86243	CCT		PASS	0.547	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		7	215	7	215	---	---	---	---
RFWD2	64326	broad.mit.edu	37	1	175956108	175956108	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr1:175956108C>G	ENST00000367669.3	-	18	2618	c.2104G>C	c.(2104-2106)Gct>Cct	p.A702P	RFWD2_ENST00000308769.8_Missense_Mutation_p.A678P	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	702					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)	p.A702P(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CAGCACACAGCACTAACAAAT	0.358																																					Ovarian(134;1413 1765 5706 35534 51541)	uc001gku.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2104-2106)GCT>CCT		ring finger and WD repeat domain 2 isoform a							113.0	103.0	106.0					1																	175956108		2203	4300	6503	SO:0001583	missense	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:175956108C>G	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.2104G>C	1.37:g.175956108C>G	ENSP00000356641:p.Ala702Pro					RFWD2_uc001gkv.1_Missense_Mutation_p.A678P|RFWD2_uc001gkw.1_Missense_Mutation_p.A462P|RFWD2_uc009wwv.2_Missense_Mutation_p.A501P|RFWD2_uc001gkt.1_Missense_Mutation_p.A541P	p.A702P	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN			18	2360	-			702			WD 7.		E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	c.2104G>C	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022353	0.93462	.	.	ENSG00000143207	ENST00000367665;ENST00000367669;ENST00000367666;ENST00000308769	T;T;T	0.72167	-0.63;-0.63;-0.63	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88217	0.6377	M	0.91818	3.245	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.967;0.999;0.998;0.967	D;D;D;D;D	0.91635	0.999;0.91;0.994;0.987;0.91	D	0.89975	0.4096	10	0.87932	D	0	-12.566	19.6503	0.95798	0.0:1.0:0.0:0.0	.	477;462;678;702;702	Q8NHY2-3;B1AMD2;Q8NHY2-2;Q8NHY2;Q504W6	.;.;.;RFWD2_HUMAN;.	P	477;702;537;678	ENSP00000356641:A702P;ENSP00000356638:A537P;ENSP00000310943:A678P	ENSP00000310943:A678P	A	-	1	0	RFWD2	174222731	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.070000	0.76763	2.803000	0.96430	0.655000	0.94253	GCT		PASS	0.358	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		14	209	14	209	---	---	---	---
XPR1	9213	broad.mit.edu	37	1	180832869	180832869	+	Silent	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr1:180832869G>T	ENST00000367590.4	+	12	1725	c.1527G>T	c.(1525-1527)gtG>gtT	p.V509V	XPR1_ENST00000367589.3_Silent_p.V444V	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	509	EXS. {ECO:0000255|PROSITE- ProRule:PRU00712}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.V509V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ACACTATGGTGTTCTTTTACC	0.373																																						uc001goi.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1525-1527)GTG>GTT		xenotropic and polytropic retrovirus receptor							152.0	147.0	148.0					1																	180832869		2203	4300	6503	SO:0001819	synonymous_variant	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180832869G>T	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1527G>T	1.37:g.180832869G>T						XPR1_uc009wxn.2_Silent_p.V444V	p.V509V	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN			12	1719	+			509			EXS.|Helical; (Potential).		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Silent	SNP	ENST00000367590.4	37	c.1527G>T	CCDS1340.1																																																																																				PASS	0.373	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		120	237	120	237	---	---	---	---
ZP4	57829	broad.mit.edu	37	1	238050087	238050087	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr1:238050087G>C	ENST00000366570.4	-	6	981	c.823C>G	c.(823-825)Cgt>Ggt	p.R275G	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	275	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.R275G(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATGCTGTCACGAGTGACAGAG	0.488																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(823-825)CGT>GGT		zona pellucida glycoprotein 4 preproprotein							162.0	145.0	151.0					1																	238050087		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238050087G>C	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.823C>G	1.37:g.238050087G>C	ENSP00000355529:p.Arg275Gly					LOC100130331_uc010pyc.1_Intron	p.R275G	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		6	823	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	275			ZP.|Extracellular (Potential).		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.823C>G	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051077	0.55218	.	.	ENSG00000116996	ENST00000366570	D	0.85484	-1.99	4.96	1.68	0.24146	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.92763	0.7699	H	0.94462	3.54	0.38836	D	0.955957	D	0.89917	1.0	D	0.83275	0.996	D	0.91372	0.5120	10	0.87932	D	0	-10.1551	6.9406	0.24490	0.0933:0.0:0.5574:0.3493	.	275	Q12836	ZP4_HUMAN	G	275	ENSP00000355529:R275G	ENSP00000355529:R275G	R	-	1	0	ZP4	236116710	0.323000	0.24643	0.082000	0.20525	0.314000	0.28054	-0.033000	0.12246	0.474000	0.27392	0.655000	0.94253	CGT		PASS	0.488	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			95	44	95	44	---	---	---	---
OR13G1	441933	broad.mit.edu	37	1	247836257	247836257	+	Silent	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr1:247836257G>T	ENST00000359688.2	-	1	108	c.87C>A	c.(85-87)ctC>ctA	p.L29L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L29L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GATAGACAATGAGAAAAAAGA	0.423																																						uc001idi.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(85-87)CTC>CTA		olfactory receptor, family 13, subfamily G,							79.0	76.0	77.0					1																	247836257		2203	4300	6503	SO:0001819	synonymous_variant	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247836257G>T	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.87C>A	1.37:g.247836257G>T							p.L29L	NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	87	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		29			Helical; Name=1; (Potential).		B2RN80|Q5T2T2|Q6IF86	Silent	SNP	ENST00000359688.2	37	c.87C>A	CCDS31094.1																																																																																				PASS	0.423	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		65	20	65	20	---	---	---	---
RSAD2	91543	broad.mit.edu	37	2	7027089	7027089	+	Missense_Mutation	SNP	A	A	G	rs554141538		TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr2:7027089A>G	ENST00000382040.3	+	3	668	c.532A>G	c.(532-534)Atc>Gtc	p.I178V	RSAD2_ENST00000541728.1_Missense_Mutation_p.I71V	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2									p.I178V(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		CATTCTCGCTATCTCCTGTGA	0.443																																						uc002qyp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(532-534)ATC>GTC		radical S-adenosyl methionine domain containing							90.0	83.0	85.0					2																	7027089		2203	4300	6503	SO:0001583	missense	91543				defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	g.chr2:7027089A>G	AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.532A>G	2.37:g.7027089A>G	ENSP00000371471:p.Ile178Val						p.I178V	NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.191)	3	668	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		178						Missense_Mutation	SNP	ENST00000382040.3	37	c.532A>G	CCDS1656.1	.	.	.	.	.	.	.	.	.	.	A	0.856	-0.736866	0.03111	.	.	ENSG00000134321	ENST00000442639;ENST00000382040;ENST00000541728	D;D;D	0.92348	-3.02;-3.02;-3.02	5.89	4.74	0.60224	Elongator protein 3/MiaB/NifB (1);Radical SAM (1);	0.094886	0.64402	N	0.000001	D	0.84750	0.5541	N	0.17594	0.5	0.41511	D	0.988347	B	0.23128	0.08	B	0.31337	0.128	T	0.74460	-0.3658	10	0.17369	T	0.5	-34.3593	10.2641	0.43445	0.8041:0.0:0.1959:0.0	.	178	Q8WXG1	RSAD2_HUMAN	V	110;178;71	ENSP00000406427:I110V;ENSP00000371471:I178V;ENSP00000440859:I71V	ENSP00000371471:I178V	I	+	1	0	RSAD2	6944540	0.852000	0.29690	0.990000	0.47175	0.687000	0.40016	1.492000	0.35594	0.480000	0.27534	-1.139000	0.01908	ATC		PASS	0.443	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		33	19	33	19	---	---	---	---
ADCY3	109	broad.mit.edu	37	2	25095475	25095475	+	Silent	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr2:25095475C>T	ENST00000260600.5	-	2	1640	c.789G>A	c.(787-789)gaG>gaA	p.E263E		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	263					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.E263E(1)		NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TCATCTTCACCTCCAGCGACT	0.632																																						uc002rfs.3																			1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(1)	4						c.(787-789)GAG>GAA		adenylate cyclase 3							97.0	100.0	99.0					2																	25095475		2203	4300	6503	SO:0001819	synonymous_variant	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25095475C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.789G>A	2.37:g.25095475C>T						ADCY3_uc010ykm.1_Silent_p.E263E	p.E263E	NM_004036	NP_004027	O60266	ADCY3_HUMAN			2	988	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		263					B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	37	c.789G>A	CCDS1715.1																																																																																				PASS	0.632	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			84	127	84	127	---	---	---	---
CCDC121	79635	broad.mit.edu	37	2	27854712	27854712	+	5'Flank	SNP	G	G	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr2:27854712G>C	ENST00000324364.3	-	0	0				GPN1_ENST00000458167.2_Intron|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000407583.3_Missense_Mutation_p.G74A|GPN1_ENST00000424214.1_Missense_Mutation_p.G7A|CCDC121_ENST00000394775.3_5'Flank|GPN1_ENST00000264718.3_Missense_Mutation_p.G100A|ZNF512_ENST00000556601.1_3'UTR|GPN1_ENST00000515877.1_Missense_Mutation_p.G7A|GPN1_ENST00000503738.1_Intron|GPN1_ENST00000610189.1_Missense_Mutation_p.G86A|GPN1_ENST00000461249.1_Intron	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121									p.G86A(2)		breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					TATGGACTTGGACCCAATGGC	0.368																																						uc010ymc.1																			2	Substitution - Missense(2)		lung(2)		0						c.(298-300)GGA>GCA		GPN-loop GTPase 1 isoform a							169.0	160.0	163.0					2																	27854712		2203	4300	6503	SO:0001631	upstream_gene_variant	11321					cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:27854712G>C	AK125354	CCDS1759.1, CCDS46247.1	2p23.2	2008-02-05			ENSG00000176714	ENSG00000176714			25833	protein-coding gene	gene with protein product							Standard	NM_024584		Approved	FLJ43364, FLJ13646	uc002rld.3	Q6ZUS5	OTTHUMG00000128427		2.37:g.27854712G>C	Exception_encountered					ZNF512_uc010yly.1_RNA|CCDC121_uc010eze.2_5'Flank|CCDC121_uc002rld.2_5'Flank|CCDC121_uc002rle.2_5'Flank|GPN1_uc010ezf.2_Missense_Mutation_p.G74A|GPN1_uc010yma.1_Missense_Mutation_p.G7A|GPN1_uc010ymb.1_Intron|GPN1_uc010ymd.1_Intron|GPN1_uc010yme.1_Missense_Mutation_p.G100A|GPN1_uc010ezg.1_Intron	p.G100A	NM_007266	NP_009197	Q9HCN4	GPN1_HUMAN			4	320	+			86					B3KW66|J3KQZ8|Q9H8G6	Missense_Mutation	SNP	ENST00000324364.3	37	c.299G>C	CCDS1759.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970144	0.92855	.	.	ENSG00000198522	ENST00000515877;ENST00000424214;ENST00000407583;ENST00000264718	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	6.02	6.02	0.97574	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.70509	0.3232	H	0.96996	3.92	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	T	0.80070	-0.1536	10	0.87932	D	0	-9.3883	17.26	0.87067	0.0:0.0:1.0:0.0	.	86;100;74	Q9HCN4;B4DQM4;B5MBZ5	GPN1_HUMAN;.;.	A	7;7;74;100	ENSP00000424678:G7A;ENSP00000398115:G7A;ENSP00000384255:G74A;ENSP00000264718:G100A	ENSP00000264718:G100A	G	+	2	0	GPN1	27708216	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	8.741000	0.91583	2.865000	0.98341	0.655000	0.94253	GGA		PASS	0.368	CCDC121-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250215.1	NM_024584		6	287	6	287	---	---	---	---
CCDC121	79635	broad.mit.edu	37	2	27854762	27854762	+	5'Flank	SNP	G	G	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr2:27854762G>C	ENST00000324364.3	-	0	0				GPN1_ENST00000458167.2_Intron|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000407583.3_Missense_Mutation_p.D91H|GPN1_ENST00000424214.1_Missense_Mutation_p.D24H|GPN1_ENST00000264718.3_Missense_Mutation_p.D117H|ZNF512_ENST00000556601.1_3'UTR|GPN1_ENST00000515877.1_Missense_Mutation_p.D24H|GPN1_ENST00000503738.1_Intron|GPN1_ENST00000610189.1_Missense_Mutation_p.D103H|GPN1_ENST00000461249.1_Intron	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121									p.D103H(2)		breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					TACCAGATTTGATCAGGTATA	0.378																																						uc010ymc.1																			2	Substitution - Missense(2)		lung(2)		0						c.(349-351)GAT>CAT		GPN-loop GTPase 1 isoform a							165.0	156.0	159.0					2																	27854762		2203	4300	6503	SO:0001631	upstream_gene_variant	11321					cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:27854762G>C	AK125354	CCDS1759.1, CCDS46247.1	2p23.2	2008-02-05			ENSG00000176714	ENSG00000176714			25833	protein-coding gene	gene with protein product							Standard	NM_024584		Approved	FLJ43364, FLJ13646	uc002rld.3	Q6ZUS5	OTTHUMG00000128427		2.37:g.27854762G>C	Exception_encountered					ZNF512_uc010yly.1_RNA|CCDC121_uc002rle.2_5'Flank|GPN1_uc010ezf.2_Missense_Mutation_p.D91H|GPN1_uc010yma.1_Missense_Mutation_p.D24H|GPN1_uc010ymb.1_Intron|GPN1_uc010ymd.1_Intron|GPN1_uc010yme.1_Missense_Mutation_p.D117H|GPN1_uc010ezg.1_Intron	p.D117H	NM_007266	NP_009197	Q9HCN4	GPN1_HUMAN			4	370	+			103					B3KW66|J3KQZ8|Q9H8G6	Missense_Mutation	SNP	ENST00000324364.3	37	c.349G>C	CCDS1759.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498290	0.85069	.	.	ENSG00000198522	ENST00000515877;ENST00000424214;ENST00000407583;ENST00000264718	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	6.02	6.02	0.97574	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.43122	0.1233	M	0.72576	2.205	0.80722	D	1	B;B;B	0.33448	0.091;0.195;0.412	B;B;B	0.40444	0.329;0.065;0.305	T	0.25502	-1.0130	10	0.51188	T	0.08	-11.3166	17.26	0.87067	0.0:0.0:1.0:0.0	.	103;117;91	Q9HCN4;B4DQM4;B5MBZ5	GPN1_HUMAN;.;.	H	24;24;91;117	ENSP00000424678:D24H;ENSP00000398115:D24H;ENSP00000384255:D91H;ENSP00000264718:D117H	ENSP00000264718:D117H	D	+	1	0	GPN1	27708266	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.741000	0.91583	2.865000	0.98341	0.655000	0.94253	GAT		PASS	0.378	CCDC121-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250215.1	NM_024584		5	304	5	304	---	---	---	---
GPN1	11321	broad.mit.edu	37	2	27855502	27855502	+	Silent	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr2:27855502G>A	ENST00000610189.1	+	5	322	c.315G>A	c.(313-315)gtG>gtA	p.V105V	GPN1_ENST00000458167.2_Silent_p.V10V|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000407583.3_Silent_p.V93V|GPN1_ENST00000424214.1_Silent_p.V26V|GPN1_ENST00000264718.3_Silent_p.V119V|ZNF512_ENST00000556601.1_3'UTR|GPN1_ENST00000515877.1_Silent_p.V26V|GPN1_ENST00000503738.1_Silent_p.V10V|GPN1_ENST00000461249.1_3'UTR	NM_007266.3	NP_009197.2			GPN-loop GTPase 1									p.V105V(2)		endometrium(1)|large_intestine(1)|lung(12)	14						TCTTTTAGGTGATGAAATTTA	0.413																																						uc010ymc.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(355-357)GTG>GTA		GPN-loop GTPase 1 isoform a							206.0	199.0	202.0					2																	27855502		2203	4300	6503	SO:0001819	synonymous_variant	11321					cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:27855502G>A	AB044661	CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1	2p23.3	2011-11-04	2008-04-30	2008-04-30	ENSG00000198522	ENSG00000198522		"""GPN-loop GTPases"""	17030	protein-coding gene	gene with protein product	"""RNA polymerase II associated protein 4"""	611479	"""XPA binding protein 1"", ""XPA binding protein 1, GTPase"""	XAB1		11058119, 11124703	Standard	NM_007266		Approved	NTPBP, MBDIN, ATPBD1A, RPAP4	uc010ymc.2	Q9HCN4	OTTHUMG00000097784	ENST00000610189.1:c.315G>A	2.37:g.27855502G>A						ZNF512_uc010yly.1_RNA|GPN1_uc010ezf.2_Silent_p.V93V|GPN1_uc010yma.1_Silent_p.V26V|GPN1_uc010ymb.1_Silent_p.V10V|GPN1_uc010ymd.1_5'UTR|GPN1_uc010yme.1_Silent_p.V119V|GPN1_uc010ezg.1_5'UTR	p.V119V	NM_007266	NP_009197	Q9HCN4	GPN1_HUMAN			5	378	+			105						Silent	SNP	ENST00000610189.1	37	c.357G>A																																																																																					PASS	0.413	GPN1-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473126.1	NM_007266		8	258	8	258	---	---	---	---
VRK2	7444	broad.mit.edu	37	2	58313518	58313518	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr2:58313518C>G	ENST00000435505.2	+	8	1046	c.301C>G	c.(301-303)Cct>Gct	p.P101A	VRK2_ENST00000412104.2_Missense_Mutation_p.P101A|VRK2_ENST00000440705.2_Missense_Mutation_p.P78A|VRK2_ENST00000340157.4_Missense_Mutation_p.P101A|VRK2_ENST00000417641.2_Missense_Mutation_p.P101A			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	101	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P101A(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						TTTAGGAATTCCTCTGTTTTA	0.279																																						uc002rzo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(301-303)CCT>GCT		vaccinia related kinase 2 isoform 2							116.0	132.0	126.0					2																	58313518		2203	4295	6498	SO:0001583	missense	7444					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:58313518C>G	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.301C>G	2.37:g.58313518C>G	ENSP00000408002:p.Pro101Ala					VRK2_uc010fcb.2_Missense_Mutation_p.P101A|VRK2_uc002rzs.2_Missense_Mutation_p.P101A|VRK2_uc002rzr.2_Missense_Mutation_p.P101A|VRK2_uc010fcc.2_5'UTR|VRK2_uc002rzv.2_Missense_Mutation_p.P101A|VRK2_uc010fcd.2_Missense_Mutation_p.P78A|VRK2_uc002rzp.2_Missense_Mutation_p.P101A|VRK2_uc010ypg.1_Missense_Mutation_p.P101A|VRK2_uc002rzq.2_Missense_Mutation_p.P101A|VRK2_uc002rzu.2_Missense_Mutation_p.P101A|VRK2_uc002rzt.2_5'UTR|VRK2_uc010yph.1_5'UTR	p.P101A	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN			8	1046	+			101			Protein kinase.		B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Missense_Mutation	SNP	ENST00000435505.2	37	c.301C>G	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913303	0.72983	.	.	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000423109;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000440705	D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048016	0.85682	D	0.000000	D	0.93779	0.8011	M	0.86740	2.835	0.58432	D	0.999997	P;D;D	0.76494	0.881;0.992;0.999	B;P;P	0.62014	0.311;0.897;0.882	D	0.94598	0.7793	10	0.87932	D	0	-15.3636	18.1527	0.89679	0.0:1.0:0.0:0.0	.	101;101;101	Q86Y07-2;Q86Y07-5;Q86Y07	.;.;VRK2_HUMAN	A	101;101;105;101;101;101;78	ENSP00000408002:P101A;ENSP00000402375:P101A;ENSP00000404156:P101A;ENSP00000342381:P101A;ENSP00000398323:P78A	ENSP00000342381:P101A	P	+	1	0	VRK2	58167022	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.636000	0.67848	2.641000	0.89580	0.585000	0.79938	CCT		PASS	0.279	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296		5	351	5	351	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80646650	80646650	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr2:80646650C>A	ENST00000402739.4	+	8	1219	c.1214C>A	c.(1213-1215)gCt>gAt	p.A405D	CTNNA2_ENST00000361291.4_Missense_Mutation_p.A439D|CTNNA2_ENST00000343114.3_Missense_Mutation_p.A84D|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A405D|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A405D|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A405D|CTNNA2_ENST00000466387.1_Missense_Mutation_p.A405D	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	405					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.A405D(1)|p.A406E(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTCATTGAGGCTGCAAAGAGC	0.433																																						uc010ysh.1																			2	Substitution - Missense(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(1213-1215)GCT>GAT		catenin, alpha 2 isoform 1							116.0	115.0	115.0					2																	80646650		2015	4214	6229	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80646650C>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1214C>A	2.37:g.80646650C>A	ENSP00000384638:p.Ala405Asp					CTNNA2_uc010yse.1_Missense_Mutation_p.A405D|CTNNA2_uc010ysf.1_Missense_Mutation_p.A405D|CTNNA2_uc010ysg.1_Missense_Mutation_p.A405D|CTNNA2_uc010ysi.1_Missense_Mutation_p.A37D	p.A405D	NM_004389	NP_004380	P26232	CTNA2_HUMAN			8	1219	+			405					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1214C>A		.	.	.	.	.	.	.	.	.	.	C	33	5.275999	0.95459	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114;ENST00000409550	T;T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.84243	0.5429	M	0.89601	3.045	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;1.0	D;D;D;D	0.91635	0.999;0.978;0.998;0.998	D	0.85414	0.1139	9	.	.	.	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	37;405;405;405	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	D	405;405;439;405;405;405;84;70	ENSP00000418191:A405D;ENSP00000419295:A405D;ENSP00000355398:A439D;ENSP00000384638:A405D;ENSP00000444675:A405D;ENSP00000441705:A405D;ENSP00000341500:A84D;ENSP00000386587:A70D	.	A	+	2	0	CTNNA2	80500161	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GCT		PASS	0.433	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		62	32	62	32	---	---	---	---
SNRNP200	23020	broad.mit.edu	37	2	96958793	96958793	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr2:96958793T>G	ENST00000323853.5	-	16	2154	c.2077A>C	c.(2077-2079)Aca>Cca	p.T693P	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	693	Helicase C-terminal 1. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.T693P(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TTTTTCTCTGTGATACCCACA	0.403																																						uc002svu.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|large_intestine(1)	10						c.(2077-2079)ACA>CCA		activating signal cointegrator 1 complex subunit							94.0	85.0	88.0					2																	96958793		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96958793T>G	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.2077A>C	2.37:g.96958793T>G	ENSP00000317123:p.Thr693Pro						p.T693P	NM_014014	NP_054733	O75643	U520_HUMAN			16	2163	-			693			Helicase C-terminal 1.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.2077A>C	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.940496	0.92526	.	.	ENSG00000144028	ENST00000323853;ENST00000540328	D	0.91351	-2.83	6.06	6.06	0.98353	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86887	0.6041	L	0.47078	1.49	0.80722	D	1	P	0.39624	0.681	B	0.32677	0.15	D	0.88144	0.2846	10	0.87932	D	0	-7.7511	15.598	0.76602	0.0:0.0:0.0:1.0	.	693	O75643	U520_HUMAN	P	693;368	ENSP00000317123:T693P	ENSP00000317123:T693P	T	-	1	0	SNRNP200	96322520	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.948000	0.87774	2.315000	0.78130	0.533000	0.62120	ACA		PASS	0.403	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		45	59	45	59	---	---	---	---
IL36G	56300	broad.mit.edu	37	2	113737695	113737695	+	Silent	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr2:113737695G>A	ENST00000259205.4	+	4	339	c.270G>A	c.(268-270)aaG>aaA	p.K90K	IL36G_ENST00000376489.2_Silent_p.K55K	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	90					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular space (GO:0005615)		p.K90K(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						ATTGTGAGAAGGTTGGAGAAC	0.388																																						uc002tio.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(268-270)AAG>AAA		interleukin 1 family, member 9							70.0	70.0	70.0					2																	113737695		2203	4300	6503	SO:0001819	synonymous_variant	56300				cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113737695G>A	AF200492	CCDS2108.1, CCDS62992.1	2q12-q21	2011-07-14	2011-06-06	2011-06-06	ENSG00000136688	ENSG00000136688		"""Interleukins and interleukin receptors"""	15741	protein-coding gene	gene with protein product	"""interleukin-1 homolog 1"", ""interleukin 1-related protein 2"", ""interleukin-1 epsilon"""	605542	"""interleukin 1 family, member 9"""	IL1F9		10860666, 10744718, 11991722, 11991723	Standard	NM_019618		Approved	IL-1H1, IL-1RP2, IL-1F9, IL1H1, IL1E	uc002tio.1	Q9NZH8	OTTHUMG00000131336	ENST00000259205.4:c.270G>A	2.37:g.113737695G>A						IL1F9_uc010fkr.1_Silent_p.K55K	p.K90K	NM_019618	NP_062564	Q9NZH8	IL36G_HUMAN			4	339	+			90					Q56B91|Q6UVX7|Q7RTZ9	Silent	SNP	ENST00000259205.4	37	c.270G>A	CCDS2108.1																																																																																				PASS	0.388	IL36G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330713.2	NM_019618		33	44	33	44	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168102982	168102982	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr2:168102982C>T	ENST00000409195.1	+	9	5169	c.5080C>T	c.(5080-5082)Ctt>Ttt	p.L1694F	XIRP2_ENST00000295237.9_Missense_Mutation_p.L1694F|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L1472F|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1519					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.L1694F(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TATCTATTGTCTTCTTCATGA	0.338																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(5080-5082)CTT>TTT		xin actin-binding repeat containing 2 isoform 1							119.0	114.0	116.0					2																	168102982		1878	4099	5977	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102982C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5080C>T	2.37:g.168102982C>T	ENSP00000386840:p.Leu1694Phe					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.L1519F|XIRP2_uc010fpq.2_Missense_Mutation_p.L1472F|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.L1694F	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	5098	+			1519					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.5080C>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993668	0.74703	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.09723	2.97;2.97;2.95	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.37461	0.1004	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	T	0.06110	-1.0845	10	0.48119	T	0.1	-15.7347	18.3707	0.90406	0.0:1.0:0.0:0.0	.	1519;1519;1472	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	F	1694;1694;1472	ENSP00000386840:L1694F;ENSP00000295237:L1694F;ENSP00000387255:L1472F	ENSP00000295237:L1694F	L	+	1	0	XIRP2	167811228	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.757000	0.68766	2.642000	0.89623	0.650000	0.86243	CTT		PASS	0.338	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		35	80	35	80	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170055374	170055374	+	Missense_Mutation	SNP	T	T	C	rs374622140		TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr2:170055374T>C	ENST00000263816.3	-	45	8785	c.8500A>G	c.(8500-8502)Att>Gtt	p.I2834V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2834	LDL-receptor class A 19. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.I2834V(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GGAATACAAATATTTGAATTA	0.348																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(8500-8502)ATT>GTT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	T	VAL/ILE	0,4406		0,0,2203	103.0	101.0	102.0		8500	-0.7	0.0	2		102	1,8597	1.2+/-3.3	0,1,4298	no	missense	LRP2	NM_004525.2	29	0,1,6501	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	2834/4656	170055374	1,13003	2203	4299	6502	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170055374T>C		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8500A>G	2.37:g.170055374T>C	ENSP00000263816:p.Ile2834Val						p.I2834V	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	45	8713	-			2834			LDL-receptor class A 19.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.8500A>G	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543032	0.65198	0.0	1.16E-4	ENSG00000081479	ENST00000263816	T	0.58358	0.34	5.96	-0.688	0.11317	.	0.094672	0.64402	D	0.000001	T	0.47322	0.1439	N	0.13043	0.29	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.42032	-0.9475	10	0.48119	T	0.1	.	6.4015	0.21640	0.1059:0.2059:0.0:0.6882	.	2834	P98164	LRP2_HUMAN	V	2834	ENSP00000263816:I2834V	ENSP00000263816:I2834V	I	-	1	0	LRP2	169763620	1.000000	0.71417	0.011000	0.14972	0.768000	0.43524	4.168000	0.58216	-0.334000	0.08463	0.533000	0.62120	ATT		PASS	0.348	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		33	70	33	70	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179611917	179611917	+	Intron	SNP	T	T	C	rs578160962		TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr2:179611917T>C	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Silent_p.L5070L|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTATCTCTCTAGAGTCTCTC	0.522													T|||	1	0.000199681	0.0	0.0014	5008	,	,		15437	0.0		0.0	False		,,,				2504	0.0					uc002unb.2																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(15208-15210)CTA>CTG		titin isoform novex-3							70.0	74.0	72.0					2																	179611917		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611917T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-5269A>G	2.37:g.179611917T>C						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.L5070L	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15434	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.15210A>G																																																																																					PASS	0.522	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		51	141	51	141	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179615771	179615771	+	Intron	SNP	A	A	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr2:179615771A>C	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.S3786A|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTCCTCAGATTCTATATTT	0.363																																						uc002unb.2																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(11356-11358)TCT>GCT		titin isoform novex-3							130.0	137.0	135.0					2																	179615771		2202	4296	6498	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615771A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2079T>G	2.37:g.179615771A>C						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.S3786A	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11580	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.11356T>G		.	.	.	.	.	.	.	.	.	.	A	3.150	-0.174315	0.06421	.	.	ENSG00000155657	ENST00000360870	T	0.58358	0.34	4.88	2.37	0.29283	.	.	.	.	.	T	0.27313	0.0670	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.16289	0.015	T	0.24835	-1.0149	9	0.08599	T	0.76	.	3.6465	0.08187	0.6587:0.0:0.1795:0.1618	.	3786	Q8WZ42-6	.	A	3786	ENSP00000354117:S3786A	ENSP00000354117:S3786A	S	-	1	0	TTN	179324016	0.000000	0.05858	0.005000	0.12908	0.025000	0.11179	-0.032000	0.12266	0.259000	0.21709	-0.327000	0.08410	TCT		PASS	0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	483	5	483	---	---	---	---
DES	1674	broad.mit.edu	37	2	220290422	220290422	+	Silent	SNP	C	C	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr2:220290422C>G	ENST00000373960.3	+	8	1412	c.1326C>G	c.(1324-1326)acC>acG	p.T442T	AC053503.6_ENST00000431827.1_RNA	NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	442	Tail.		T -> I (in MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions, indicating an inherent incompaibility of mutant and wild-type protein to form mixed filaments). {ECO:0000269|PubMed:17221859}.		cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)	p.T442T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGGTCCATACCAAGAAGACGG	0.572																																						uc002vll.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(1324-1326)ACC>ACG		desmin							66.0	49.0	55.0					2																	220290422		2202	4299	6501	SO:0001819	synonymous_variant	1674				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	g.chr2:220290422C>G	AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"""Intermediate filaments type III"""	2770	protein-coding gene	gene with protein product	"""intermediate filament protein"""	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.1326C>G	2.37:g.220290422C>G							p.T442T	NM_001927	NP_001918	P17661	DESM_HUMAN		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)	8	1412	+		Renal(207;0.0183)	442		T -> I (in MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions, indicating an inherent incompaibility of mutant and wild-type protein to form mixed filaments).	Tail.		Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Silent	SNP	ENST00000373960.3	37	c.1326C>G	CCDS33383.1																																																																																				PASS	0.572	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927		4	3	4	3	---	---	---	---
STK11IP	114790	broad.mit.edu	37	2	220473376	220473376	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr2:220473376C>G	ENST00000456909.1	+	15	1765	c.1675C>G	c.(1675-1677)Ctc>Gtc	p.L559V	STK11IP_ENST00000295641.10_Missense_Mutation_p.L570V			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	570	Glu-rich.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)	p.L559V(1)|p.L570V(1)|p.L535V(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAATGCTTTCTCAGGGTCAC	0.607																																						uc002vml.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(1708-1710)CTC>GTC		LKB1 interacting protein							52.0	58.0	56.0					2																	220473376		2010	4161	6171	SO:0001583	missense	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220473376C>G	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1675C>G	2.37:g.220473376C>G	ENSP00000389383:p.Leu559Val					STK11IP_uc010zll.1_Missense_Mutation_p.L527V|STK11IP_uc002vmm.1_Missense_Mutation_p.L559V	p.L570V	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	15	1751	+		Renal(207;0.0183)	570			Glu-rich.		Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37	c.1708C>G		.	.	.	.	.	.	.	.	.	.	C	17.58	3.424549	0.62733	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.20332	2.1;2.08	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000008	T	0.41373	0.1156	M	0.72894	2.215	0.49483	D	0.999798	D;D;D	0.71674	0.994;0.998;0.998	D;D;D	0.77557	0.915;0.99;0.96	T	0.30504	-0.9976	10	0.87932	D	0	-7.9055	8.3596	0.32351	0.0:0.8951:0.0:0.1049	.	538;570;570	B4DUE4;Q8N1F8-2;Q8N1F8	.;.;S11IP_HUMAN	V	559;538;570	ENSP00000389383:L559V;ENSP00000295641:L570V	ENSP00000295641:L570V	L	+	1	0	STK11IP	220181620	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.210000	0.42816	2.323000	0.78572	0.561000	0.74099	CTC		PASS	0.607	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		26	20	26	20	---	---	---	---
SP140	11262	broad.mit.edu	37	2	231106201	231106201	+	Splice_Site	SNP	A	A	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr2:231106201A>C	ENST00000392045.3	+	4	603	c.489A>C	c.(487-489)caA>caC	p.Q163H	SP140_ENST00000343805.6_Splice_Site_p.Q163H|SP140_ENST00000420434.3_Splice_Site_p.Q163H|SP140_ENST00000350136.5_Splice_Site_p.Q143H|SP140_ENST00000486687.2_Splice_Site_p.Q163H|SP140_ENST00000417495.3_Splice_Site_p.Q163H	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	163					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Q163H(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATGGTAAACAAGGTAACTATC	0.378																																						uc002vql.2																			1	Substitution - Missense(1)		lung(1)		0						c.(487-489)CAA>CAC		SP140 nuclear body protein isoform 1							126.0	116.0	119.0					2																	231106201		1918	4127	6045	SO:0001630	splice_region_variant	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231106201A>C	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.490+1A>C	2.37:g.231106201A>C						SP140_uc010zma.1_RNA|SP140_uc002vqk.2_Missense_Mutation_p.Q163H|SP140_uc002vqn.2_Missense_Mutation_p.Q163H|SP140_uc002vqm.2_Missense_Mutation_p.Q163H|SP140_uc010fxl.2_Missense_Mutation_p.Q163H	p.Q163H	NM_007237	NP_009168	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	4	604	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	163					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	c.489A>C	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	A	9.069	0.996476	0.19043	.	.	ENSG00000079263	ENST00000537563;ENST00000486687;ENST00000392044;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.59083	0.46;0.78;0.61;0.29;0.61	2.92	1.69	0.24217	.	.	.	.	.	T	0.54398	0.1856	N	0.24115	0.695	0.09310	N	0.999997	P;D;D;D;D	0.69078	0.93;0.995;0.997;0.99;0.989	B;P;P;D;P	0.63283	0.353;0.795;0.899;0.913;0.732	T	0.38929	-0.9638	9	0.35671	T	0.21	-1.1361	5.9224	0.19091	0.728:0.272:0.0:0.0	.	163;163;163;163;163	E7EUR5;E7ESH9;E9PFJ6;Q13342;E7EX75	.;.;.;LY10_HUMAN;.	H	163;163;163;143;163;163;163;163	ENSP00000440107:Q163H;ENSP00000345846:Q143H;ENSP00000375899:Q163H;ENSP00000342096:Q163H;ENSP00000398210:Q163H	ENSP00000342096:Q163H	Q	+	3	2	SP140	230814445	0.812000	0.29077	0.369000	0.25952	0.054000	0.15201	1.275000	0.33144	0.490000	0.27771	0.383000	0.25322	CAA		PASS	0.378	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237	Missense_Mutation	37	16	37	16	---	---	---	---
EFHB	151651	broad.mit.edu	37	3	19961433	19961433	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr3:19961433G>T	ENST00000295824.9	-	3	1049	c.888C>A	c.(886-888)aaC>aaA	p.N296K	EFHB_ENST00000344838.4_Missense_Mutation_p.N166K|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	296							calcium ion binding (GO:0005509)	p.N296K(1)|p.N294K(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						GATATCTGAAGTTGAAATACT	0.343																																						uc003cbl.3																			2	Substitution - Missense(2)		lung(2)		0						c.(886-888)AAC>AAA		EF hand domain family, member B							95.0	102.0	100.0					3																	19961433		2203	4299	6502	SO:0001583	missense	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19961433G>T	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.888C>A	3.37:g.19961433G>T	ENSP00000295824:p.Asn296Lys					EFHB_uc003cbm.2_Missense_Mutation_p.N166K	p.N296K	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN			3	1084	-			296					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	c.888C>A	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282384	0.40394	.	.	ENSG00000163576	ENST00000295824;ENST00000344838;ENST00000389256;ENST00000440022	T;T;T;T	0.28454	1.95;2.03;2.22;1.61	5.04	3.13	0.36017	.	0.154045	0.45606	D	0.000355	T	0.21674	0.0522	L	0.43152	1.355	0.31421	N	0.674259	P;P	0.47350	0.724;0.894	B;B	0.39935	0.189;0.314	T	0.14035	-1.0487	9	.	.	.	-22.2535	7.128	0.25484	0.0931:0.0:0.734:0.173	.	166;296	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	K	296;166;296;33	ENSP00000295824:N296K;ENSP00000342263:N166K;ENSP00000373908:N296K;ENSP00000396778:N33K	.	N	-	3	2	EFHB	19936437	0.999000	0.42202	1.000000	0.80357	0.964000	0.63967	0.977000	0.29475	2.485000	0.83878	0.561000	0.74099	AAC		PASS	0.343	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		60	47	60	47	---	---	---	---
STAC	6769	broad.mit.edu	37	3	36570437	36570437	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr3:36570437G>T	ENST00000273183.3	+	10	1370	c.1070G>T	c.(1069-1071)gGg>gTg	p.G357V	STAC_ENST00000457375.2_Missense_Mutation_p.G296V	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	357					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)	p.G357V(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						ACCTTCATTGGGTGTAAGGAA	0.383																																						uc003cgh.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(1069-1071)GGG>GTG		SH3 and cysteine rich domain							79.0	78.0	79.0					3																	36570437		2203	4300	6503	SO:0001583	missense	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36570437G>T	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.1070G>T	3.37:g.36570437G>T	ENSP00000273183:p.Gly357Val					STAC_uc011aya.1_Missense_Mutation_p.G296V	p.G357V	NM_003149	NP_003140	Q99469	STAC_HUMAN			10	1109	+			357					B2R8S8	Missense_Mutation	SNP	ENST00000273183.3	37	c.1070G>T	CCDS2662.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821561	0.90873	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000544687	T;T	0.10099	2.91;2.91	5.55	5.55	0.83447	Src homology-3 domain (1);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.37625	0.1010	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.07712	-1.0758	10	0.72032	D	0.01	.	19.4907	0.95049	0.0:0.0:1.0:0.0	.	296;357	E9PEA7;Q99469	.;STAC_HUMAN	V	357;296;289	ENSP00000273183:G357V;ENSP00000393713:G296V	ENSP00000273183:G357V	G	+	2	0	STAC	36545441	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.188000	0.94921	2.778000	0.95560	0.655000	0.94253	GGG		PASS	0.383	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149		21	14	21	14	---	---	---	---
HYAL1	3373	broad.mit.edu	37	3	50340387	50340387	+	Start_Codon_SNP	SNP	T	T	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr3:50340387T>C	ENST00000266031.4	-	1	616	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	HYAL1_ENST00000320295.8_Start_Codon_SNP_p.M1V|HYAL1_ENST00000457214.2_Intron|HYAL1_ENST00000395144.2_Start_Codon_SNP_p.M1V|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000395143.2_Start_Codon_SNP_p.M1V			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	1					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)	p.M1V(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGGGCTGCCATGGCACGGGAC	0.632																																						uc003czp.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1-3)ATG>GTG		hyaluronoglucosaminidase 1 isoform 1	Hyaluronidase(DB00070)						28.0	31.0	30.0					3																	50340387		2203	4300	6503	SO:0001582	initiator_codon_variant	3373					extracellular space|lysosome	hyalurononglucosaminidase activity	g.chr3:50340387T>C	U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.1A>G	3.37:g.50340387T>C	ENSP00000266031:p.Met1Val					HYAL1_uc003czm.2_Intron|HYAL1_uc003czo.2_Intron|HYAL1_uc003czq.2_Missense_Mutation_p.M1V|HYAL1_uc003czr.2_Missense_Mutation_p.M1V|HYAL1_uc003czn.2_Intron|HYAL1_uc003czs.2_Missense_Mutation_p.M1V|HYAL1_uc003czt.2_Missense_Mutation_p.M1V	p.M1V	NM_033159	NP_149349	Q12794	HYAL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	2	133	-			1					Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Missense_Mutation	SNP	ENST00000266031.4	37	c.1A>G	CCDS2816.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.428105	0.43122	.	.	ENSG00000114378	ENST00000395144;ENST00000266031;ENST00000320295;ENST00000395143;ENST00000418723;ENST00000452672	T;T;T;T;T;T	0.41065	2.41;2.41;2.41;2.09;1.08;1.01	5.23	1.32	0.21799	.	1.894670	0.01780	N	0.031716	T	0.30854	0.0778	.	.	.	0.09310	N	0.999996	B;B;B	0.15473	0.013;0.013;0.008	B;B;B	0.13407	0.006;0.009;0.004	T	0.33624	-0.9861	9	0.87932	D	0	-3.4486	2.6973	0.05138	0.1358:0.0808:0.2803:0.5031	.	1;1;1	Q12794-7;Q12794-2;Q12794	.;.;HYAL1_HUMAN	V	1	ENSP00000378576:M1V;ENSP00000266031:M1V;ENSP00000346068:M1V;ENSP00000378575:M1V;ENSP00000394526:M1V;ENSP00000391666:M1V	ENSP00000266031:M1V	M	-	1	0	HYAL1	50315391	0.000000	0.05858	0.152000	0.22495	0.408000	0.30992	0.110000	0.15437	0.900000	0.36469	0.533000	0.62120	ATG		PASS	0.632	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1		Missense_Mutation	31	4	31	4	---	---	---	---
CADPS	8618	broad.mit.edu	37	3	62451077	62451077	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr3:62451077C>T	ENST00000383710.4	-	26	3950	c.3601G>A	c.(3601-3603)Gaa>Aaa	p.E1201K	CADPS_ENST00000283269.9_Missense_Mutation_p.E1162K|CADPS_ENST00000357948.3_Missense_Mutation_p.E1122K|CADPS_ENST00000462768.1_5'UTR	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1201	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.E1162K(1)|p.E1201K(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AAAGTCCCTTCGTCATATCTG	0.333																																						uc003dll.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(3601-3603)GAA>AAA		Ca2+-dependent secretion activator isoform 1							114.0	124.0	121.0					3																	62451077		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62451077C>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3601G>A	3.37:g.62451077C>T	ENSP00000373215:p.Glu1201Lys					CADPS_uc003dlj.1_Missense_Mutation_p.E156K|CADPS_uc003dlk.1_Missense_Mutation_p.E649K|CADPS_uc003dlm.2_Missense_Mutation_p.E1162K|CADPS_uc003dln.2_Missense_Mutation_p.E1122K	p.E1201K	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	26	3961	-		Lung SC(41;0.0452)	1201			Mediates targeting and association with DCVs (By similarity).		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.3601G>A	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.623423|4.623423	0.87460|0.87460	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269|ENST00000466621	T;T;T|.	0.30714|.	1.52;1.52;1.52|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78259|0.78259	0.4255|0.4255	M|M	0.75615|0.75615	2.305|2.305	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.994;0.995;1.0;0.994|.	P;D;D;P|.	0.73708|.	0.742;0.97;0.981;0.758|.	T|T	0.75830|0.75830	-0.3179|-0.3179	10|5	0.72032|.	D|.	0.01|.	.|.	20.4366|20.4366	0.99092|0.99092	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1122;1162;1201;1206|.	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4|.	.;.;CAPS1_HUMAN;.|.	K|Q	1207;1201;1122;1162|112	ENSP00000373215:E1201K;ENSP00000350632:E1122K;ENSP00000283269:E1162K|.	ENSP00000283269:E1162K|.	E|R	-|-	1|2	0|0	CADPS|CADPS	62426117|62426117	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.836000|0.836000	0.47400|0.47400	7.487000|7.487000	0.81328|0.81328	2.837000|2.837000	0.97791|0.97791	0.591000|0.591000	0.81541|0.81541	GAA|CGA		PASS	0.333	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		5	133	5	133	---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89391048	89391048	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr3:89391048C>T	ENST00000336596.2	+	5	1339	c.1114C>T	c.(1114-1116)Cag>Tag	p.Q372*	EPHA3_ENST00000452448.2_Nonsense_Mutation_p.Q372*|EPHA3_ENST00000494014.1_Nonsense_Mutation_p.Q372*	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	372	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.Q372*(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GAATATAAAACAGTGTGAGCC	0.493										TSP Lung(6;0.00050)																												uc003dqy.2																			2	Substitution - Nonsense(2)		lung(2)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(1114-1116)CAG>TAG		ephrin receptor EphA3 isoform a precursor							115.0	108.0	111.0					3																	89391048		2203	4300	6503	SO:0001587	stop_gained	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89391048C>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1114C>T	3.37:g.89391048C>T	ENSP00000337451:p.Gln372*	TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Nonsense_Mutation_p.Q372*|EPHA3_uc010hon.1_RNA	p.Q372*	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	5	1339	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	372			Extracellular (Potential).|Fibronectin type-III 1.		Q9H2V3|Q9H2V4	Nonsense_Mutation	SNP	ENST00000336596.2	37	c.1114C>T	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	36	5.676056	0.96764	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	.	.	.	5.87	4.98	0.66077	.	0.391360	0.30269	N	0.010002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9557	0.24570	0.1326:0.6728:0.1276:0.067	.	.	.	.	X	372	.	.	Q	+	1	0	EPHA3	89473738	0.001000	0.12720	0.991000	0.47740	0.976000	0.68499	0.827000	0.27421	1.587000	0.49959	0.655000	0.94253	CAG		PASS	0.493	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		55	23	55	23	---	---	---	---
CD96	10225	broad.mit.edu	37	3	111286386	111286386	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr3:111286386G>T	ENST00000283285.5	+	3	566	c.435G>T	c.(433-435)tgG>tgT	p.W145C	CD96_ENST00000352690.4_Missense_Mutation_p.W145C|CD96_ENST00000438817.2_Missense_Mutation_p.W145C	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	145					cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.W145C(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						CAGATGAATGGAACAGCAACC	0.328									Opitz Trigonocephaly syndrome																													uc003dxw.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(433-435)TGG>TGT		CD96 antigen isoform 1 precursor							96.0	88.0	91.0					3																	111286386		2203	4300	6503	SO:0001583	missense	10225	Opitz_Trigonocephaly_syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111286386G>T	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.435G>T	3.37:g.111286386G>T	ENSP00000283285:p.Trp145Cys					CD96_uc003dxv.2_Missense_Mutation_p.W145C|CD96_uc003dxx.2_Missense_Mutation_p.W145C|CD96_uc010hpy.1_Missense_Mutation_p.W145C	p.W145C	NM_198196	NP_937839	P40200	TACT_HUMAN			3	605	+			145			Extracellular (Potential).		Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	c.435G>T	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	G	8.697	0.908896	0.17833	.	.	ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817	T;T;T	0.63913	-0.05;-0.07;-0.06	4.89	4.89	0.63831	.	0.647104	0.13790	N	0.362582	T	0.64821	0.2633	N	0.24115	0.695	0.20975	N	0.999812	D;D;D;D	0.69078	0.994;0.997;0.994;0.994	P;P;P;P	0.62740	0.808;0.906;0.808;0.808	T	0.56390	-0.7987	10	0.38643	T	0.18	-0.0083	13.4128	0.60952	0.0:0.0:1.0:0.0	.	145;145;145;145	E9PEJ1;P40200-2;P40200;Q8WUE2	.;.;TACT_HUMAN;.	C	145	ENSP00000342040:W145C;ENSP00000283285:W145C;ENSP00000389801:W145C	ENSP00000283285:W145C	W	+	3	0	CD96	112769076	0.172000	0.23043	0.131000	0.22000	0.003000	0.03518	1.183000	0.32041	2.548000	0.85928	0.650000	0.86243	TGG		PASS	0.328	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			4	199	4	199	---	---	---	---
SPICE1	152185	broad.mit.edu	37	3	113169255	113169255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr3:113169255G>A	ENST00000295872.4	-	15	2510	c.2251C>T	c.(2251-2253)Cag>Tag	p.Q751*		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	751					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)		p.Q751*(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						AGTTTCTGCTGCTCTATCAAC	0.428																																						uc003eag.3																			2	Substitution - Nonsense(2)		lung(2)		0						c.(2251-2253)CAG>TAG		coiled-coil domain containing 52							148.0	130.0	136.0					3																	113169255		2203	4300	6503	SO:0001587	stop_gained	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113169255G>A	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.2251C>T	3.37:g.113169255G>A	ENSP00000295872:p.Gln751*					CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Nonsense_Mutation_p.Q647*	p.Q751*	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN			15	2542	-			751			Potential.		D3DN72|Q8WUX6	Nonsense_Mutation	SNP	ENST00000295872.4	37	c.2251C>T	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	G	40	8.465292	0.98822	.	.	ENSG00000163611	ENST00000295872	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.3271	16.6379	0.85064	0.0:0.0:1.0:0.0	.	.	.	.	X	751	.	ENSP00000295872:Q751X	Q	-	1	0	SPICE1	114651945	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.430000	0.66501	2.729000	0.93468	0.650000	0.86243	CAG		PASS	0.428	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		259	79	259	79	---	---	---	---
FNDC3B	64778	broad.mit.edu	37	3	172096201	172096201	+	Silent	SNP	C	C	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr3:172096201C>G	ENST00000336824.4	+	24	3249	c.3150C>G	c.(3148-3150)acC>acG	p.T1050T	FNDC3B_ENST00000416957.1_Silent_p.T1050T|FNDC3B_ENST00000415807.2_Silent_p.T1050T	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1050	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.T1050T(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TCAGCACAACCAAAAGTGTCC	0.478																																						uc003fhy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(3148-3150)ACC>ACG		fibronectin type III domain containing 3B							73.0	74.0	74.0					3																	172096201		2203	4300	6503	SO:0001819	synonymous_variant	64778					endoplasmic reticulum|integral to membrane		g.chr3:172096201C>G	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.3150C>G	3.37:g.172096201C>G						FNDC3B_uc003fhz.3_Silent_p.T1050T	p.T1050T	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	24	3322	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		1050					B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Silent	SNP	ENST00000336824.4	37	c.3150C>G	CCDS3217.1																																																																																				PASS	0.478	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		6	270	6	270	---	---	---	---
MCF2L2	23101	broad.mit.edu	37	3	183056620	183056620	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr3:183056620A>T	ENST00000328913.3	-	5	751	c.454T>A	c.(454-456)Tac>Aac	p.Y152N	MCF2L2_ENST00000414362.2_Missense_Mutation_p.Y152N|MCF2L2_ENST00000447025.2_Missense_Mutation_p.Y152N|MCF2L2_ENST00000473233.1_Missense_Mutation_p.Y152N	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	152	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Y152N(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTTCGATAGTATTTAATGCCA	0.438																																						uc003fli.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(454-456)TAC>AAC		Rho family guanine-nucleotide exchange factor							125.0	113.0	117.0					3																	183056620		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183056620A>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.454T>A	3.37:g.183056620A>T	ENSP00000328118:p.Tyr152Asn					MCF2L2_uc003flj.1_Missense_Mutation_p.Y152N|MCF2L2_uc003flp.1_Missense_Mutation_p.Y187N	p.Y152N	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		5	544	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		152			CRAL-TRIO.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.454T>A	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.300300	0.60195	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362;ENST00000482017	T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.75	4.81	3.68	0.42216	Cellular retinaldehyde-binding/triple function, C-terminal (3);	0.244527	0.33732	N	0.004602	T	0.59582	0.2204	L	0.47716	1.5	0.28797	N	0.898982	P;P;D	0.59767	0.919;0.662;0.986	P;P;P	0.60541	0.628;0.702;0.876	T	0.57306	-0.7834	10	0.87932	D	0	.	3.1975	0.06637	0.5919:0.0:0.4081:0.0	.	152;152;152	Q86YR7-3;Q86YR7-2;Q86YR7	.;.;MF2L2_HUMAN	N	152;152;152;152;124	ENSP00000328118:Y152N;ENSP00000420070:Y152N;ENSP00000388190:Y152N;ENSP00000414131:Y152N;ENSP00000417345:Y124N	ENSP00000328118:Y152N	Y	-	1	0	MCF2L2	184539314	1.000000	0.71417	0.996000	0.52242	0.956000	0.61745	3.499000	0.53310	1.814000	0.52955	0.533000	0.62120	TAC		PASS	0.438	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		12	340	12	340	---	---	---	---
RFC4	5984	broad.mit.edu	37	3	186510376	186510376	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr3:186510376C>A	ENST00000392481.2	-	7	859	c.578G>T	c.(577-579)aGa>aTa	p.R193I	RFC4_ENST00000433496.1_Missense_Mutation_p.R193I|RFC4_ENST00000296273.2_Missense_Mutation_p.R193I	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	193					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.R193I(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TTTTGAACATCTAGAGGTCAG	0.363																																						uc003fqz.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5						c.(577-579)AGA>ATA		replication factor C 4							87.0	95.0	93.0					3																	186510376		2203	4300	6503	SO:0001583	missense	5984				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr3:186510376C>A		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.578G>T	3.37:g.186510376C>A	ENSP00000376272:p.Arg193Ile					RFC4_uc011bsc.1_Missense_Mutation_p.R193I|RFC4_uc011bsd.1_Missense_Mutation_p.R193I	p.R193I	NM_002916	NP_002907	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	7	801	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		193					B4DM41|D3DNV2|Q6FHX7	Missense_Mutation	SNP	ENST00000392481.2	37	c.578G>T	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	C	34	5.314952	0.95655	.	.	ENSG00000163918	ENST00000433496;ENST00000392481;ENST00000296273;ENST00000418288	D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27	5.65	5.65	0.86999	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98877	0.9620	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.99521	1.0958	10	0.87932	D	0	-1.4046	17.5856	0.87980	0.0:1.0:0.0:0.0	.	193;193	B4DM41;P35249	.;RFC4_HUMAN	I	193	ENSP00000399769:R193I;ENSP00000376272:R193I;ENSP00000296273:R193I;ENSP00000411300:R193I	ENSP00000296273:R193I	R	-	2	0	RFC4	187993070	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.758000	0.85224	2.824000	0.97209	0.655000	0.94253	AGA		PASS	0.363	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		63	153	63	153	---	---	---	---
CRMP1	1400	broad.mit.edu	37	4	5853143	5853143	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr4:5853143C>T	ENST00000397890.2	-	5	746	c.532G>A	c.(532-534)Gac>Aac	p.D178N	CRMP1_ENST00000512574.1_Missense_Mutation_p.D176N|CRMP1_ENST00000324989.7_Missense_Mutation_p.D292N|CRMP1_ENST00000511535.1_5'UTR	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	178					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.D292N(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		ACCTGGCTGTCGGACATTTGG	0.483																																						uc003gip.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(532-534)GAC>AAC		collapsin response mediator protein 1 isoform 2							211.0	194.0	200.0					4																	5853143		2203	4300	6503	SO:0001583	missense	1400				axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	g.chr4:5853143C>T	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.532G>A	4.37:g.5853143C>T	ENSP00000380987:p.Asp178Asn					CRMP1_uc003gin.1_Missense_Mutation_p.D90N|CRMP1_uc003giq.2_Missense_Mutation_p.D178N|CRMP1_uc003gir.2_Missense_Mutation_p.D173N|CRMP1_uc003gis.2_Missense_Mutation_p.D292N	p.D178N	NM_001313	NP_001304	Q14194	DPYL1_HUMAN		Colorectal(103;0.0721)	6	633	-			178					A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	37	c.532G>A	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468504	0.43839	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.90444	-2.67;-2.67;-2.67	4.01	4.01	0.46588	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.89469	0.6724	M	0.88105	2.93	0.52099	D	0.999945	P;D;P;P	0.54964	0.455;0.969;0.917;0.602	B;B;B;B	0.37692	0.178;0.256;0.256;0.225	D	0.89636	0.3859	10	0.48119	T	0.1	-24.9143	9.4663	0.38816	0.0:0.9021:0.0:0.0979	.	292;176;178;115	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	N	292;178;178;176	ENSP00000321606:D292N;ENSP00000380987:D178N;ENSP00000425742:D176N	ENSP00000321606:D292N	D	-	1	0	CRMP1	5904044	0.896000	0.30565	0.995000	0.50966	0.995000	0.86356	1.692000	0.37731	2.214000	0.71695	0.655000	0.94253	GAC		PASS	0.483	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		10	261	10	261	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62679560	62679560	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr4:62679560C>T	ENST00000514591.1	+	8	1558	c.1229C>T	c.(1228-1230)tCt>tTt	p.S410F	LPHN3_ENST00000506720.1_Missense_Mutation_p.S478F|LPHN3_ENST00000512091.2_Missense_Mutation_p.S410F|LPHN3_ENST00000507164.1_Missense_Mutation_p.S478F|LPHN3_ENST00000514157.1_Missense_Mutation_p.S410F|LPHN3_ENST00000507625.1_Missense_Mutation_p.S478F|LPHN3_ENST00000508693.1_Missense_Mutation_p.S478F|LPHN3_ENST00000504896.1_Missense_Mutation_p.S410F|LPHN3_ENST00000545650.1_Missense_Mutation_p.S410F|LPHN3_ENST00000506700.1_Missense_Mutation_p.S410F|LPHN3_ENST00000511324.1_Missense_Mutation_p.S478F|LPHN3_ENST00000506746.1_Missense_Mutation_p.S478F|LPHN3_ENST00000514996.1_Missense_Mutation_p.S410F|LPHN3_ENST00000509896.1_Missense_Mutation_p.S478F|LPHN3_ENST00000508946.1_Missense_Mutation_p.S410F			Q9HAR2	LPHN3_HUMAN	latrophilin 3	410					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.S410Y(3)|p.S410F(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						tcatacatttctccgccaatt	0.363																																						uc010ihh.2																			6	Substitution - Missense(6)		large_intestine(3)|lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(1228-1230)TCT>TTT		latrophilin 3 precursor							127.0	118.0	121.0					4																	62679560		1934	4142	6076	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62679560C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1229C>T	4.37:g.62679560C>T	ENSP00000422533:p.Ser410Phe					LPHN3_uc003hcq.3_Missense_Mutation_p.S410F|LPHN3_uc003hcs.1_Missense_Mutation_p.S239F	p.S410F	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			6	1402	+			410			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1229C>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044104	0.36085	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.71222	-0.51;-0.51;-0.55;-0.54;-0.51;-0.51;-0.54;-0.54;-0.54;-0.51;-0.51;-0.51;-0.54;-0.54;-0.51	3.67	3.67	0.42095	.	0.651853	0.15757	N	0.246156	T	0.55226	0.1907	N	0.19112	0.55	0.26541	N	0.974087	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.53358	-0.8450	10	0.66056	D	0.02	.	11.1945	0.48704	0.0:1.0:0.0:0.0	.	410;410	E9PE04;Q9HAR2-2	.;.	F	410;410;478;478;410;410;410;410;410;478;478;478;410;410;410;478;478;410	ENSP00000423388:S410F;ENSP00000422533:S410F;ENSP00000423787:S478F;ENSP00000425033:S478F;ENSP00000424120:S410F;ENSP00000439831:S410F;ENSP00000421476:S478F;ENSP00000424030:S478F;ENSP00000421372:S478F;ENSP00000425201:S410F;ENSP00000423434:S410F;ENSP00000421627:S410F;ENSP00000420931:S478F;ENSP00000425884:S478F;ENSP00000424258:S410F	ENSP00000280009:S410F	S	+	2	0	LPHN3	62362155	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.846000	0.48262	2.343000	0.79666	0.563000	0.77884	TCT		PASS	0.363	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			3	61	3	61	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114276009	114276009	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr4:114276009G>T	ENST00000357077.4	+	38	6288	c.6235G>T	c.(6235-6237)Gat>Tat	p.D2079Y	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.D2046Y|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2079					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.D2079Y(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TAAGAAAGAAGATGCAGCTGG	0.483																																						uc003ibe.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(6235-6237)GAT>TAT		ankyrin 2 isoform 1							77.0	83.0	81.0					4																	114276009		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114276009G>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.6235G>T	4.37:g.114276009G>T	ENSP00000349588:p.Asp2079Tyr					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.D2094Y	p.D2079Y	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	6335	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2046					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.6235G>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	3.839	-0.034236	0.07543	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.69435	-0.38;-0.4	5.24	4.4	0.53042	.	0.751587	0.12018	N	0.507210	T	0.66489	0.2794	L	0.56769	1.78	0.49389	D	0.999788	B;P	0.47253	0.257;0.892	B;P	0.47251	0.075;0.542	T	0.62329	-0.6877	9	.	.	.	.	7.9036	0.29748	0.1459:0.1323:0.7218:0.0	.	2046;2079	Q01484;Q01484-4	ANK2_HUMAN;.	Y	2079;2046	ENSP00000349588:D2079Y;ENSP00000264366:D2046Y	.	D	+	1	0	ANK2	114495458	0.989000	0.36119	0.917000	0.36280	0.068000	0.16541	1.098000	0.31000	1.334000	0.45468	0.563000	0.77884	GAT		PASS	0.483	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		6	184	6	184	---	---	---	---
DDX60	55601	broad.mit.edu	37	4	169195106	169195106	+	Silent	SNP	G	G	A	rs138638907		TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr4:169195106G>A	ENST00000393743.3	-	17	2724	c.2433C>T	c.(2431-2433)gtC>gtT	p.V811V		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	811	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.V811V(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CAACGTACACGACCACCCCGT	0.453																																						uc003irp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2431-2433)GTC>GTT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60		A		0,4406		0,0,2203	147.0	138.0	141.0		2433	-9.6	0.1	4	dbSNP_134	141	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	DDX60	NM_017631.5		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		811/1713	169195106	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169195106G>A	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2433C>T	4.37:g.169195106G>A							p.V811V	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	17	2725	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	811			Helicase ATP-binding.		Q6PK35|Q9NVE3	Silent	SNP	ENST00000393743.3	37	c.2433C>T	CCDS34097.1																																																																																				PASS	0.453	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		13	146	13	146	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183676285	183676285	+	Missense_Mutation	SNP	A	A	G	rs376065308		TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr4:183676285A>G	ENST00000511685.1	+	22	4888	c.4765A>G	c.(4765-4767)Ata>Gta	p.I1589V	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.I1589V			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1589					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.I1589V(1)									ATGGTTGACAATAGGAACAAA	0.428													A|||	1	0.000199681	0.0	0.0	5008	,	,		19235	0.0		0.0	False		,,,				2504	0.001					uc003ivd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(4765-4767)ATA>GTA		odz, odd Oz/ten-m homolog 3		A	VAL/ILE	0,3912		0,0,1956	122.0	121.0	121.0		4765	5.3	0.9	4		121	1,8325		0,1,4162	no	missense	ODZ3	NM_001080477.1	29	0,1,6118	GG,GA,AA		0.012,0.0,0.0082	benign	1589/2700	183676285	1,12237	1956	4163	6119	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183676285A>G	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4765A>G	4.37:g.183676285A>G	ENSP00000424226:p.Ile1589Val					ODZ3_uc003ive.1_Missense_Mutation_p.I1002V	p.I1589V	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	21	4802	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	1589			Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.4765A>G	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	A	8.431	0.848587	0.17034	0.0	1.2E-4	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.16457	2.34;2.34	5.29	5.29	0.74685	.	.	.	.	.	T	0.09642	0.0237	N	0.11845	0.185	0.48901	D	0.99972	B	0.18461	0.028	B	0.14578	0.011	T	0.10776	-1.0615	9	0.07325	T	0.83	.	15.3864	0.74706	1.0:0.0:0.0:0.0	.	1589	Q9P273	TEN3_HUMAN	V	1589	ENSP00000424226:I1589V;ENSP00000385276:I1589V	ENSP00000385276:I1589V	I	+	1	0	ODZ3	183913279	1.000000	0.71417	0.925000	0.36789	0.933000	0.57130	7.112000	0.77086	2.214000	0.71695	0.460000	0.39030	ATA		PASS	0.428	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			28	42	28	42	---	---	---	---
IRX2	153572	broad.mit.edu	37	5	2749025	2749025	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr5:2749025T>A	ENST00000382611.6	-	3	1045	c.797A>T	c.(796-798)gAc>gTc	p.D266V	IRX2_ENST00000302057.5_Missense_Mutation_p.D266V|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	266					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.D266V(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GTCGTCCTCGTCGTCCTCCAG	0.721																																						uc003jda.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(796-798)GAC>GTC		iroquois homeobox 2							17.0	17.0	17.0					5																	2749025		2188	4278	6466	SO:0001583	missense	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749025T>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.797A>T	5.37:g.2749025T>A	ENSP00000372056:p.Asp266Val					IRX2_uc003jdb.2_Missense_Mutation_p.D266V	p.D266V	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	3	1039	-			266					Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	c.797A>T	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	T	10.57	1.387854	0.25031	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	T;T;T	0.68181	-0.15;-0.15;-0.31	4.81	4.81	0.61882	.	0.578268	0.19470	N	0.113466	T	0.57666	0.2069	L	0.40543	1.245	0.58432	D	0.999999	B	0.31227	0.314	B	0.30251	0.113	T	0.55970	-0.8056	10	0.32370	T	0.25	-16.8038	14.059	0.64788	0.0:0.0:0.0:1.0	.	266	Q9BZI1	IRX2_HUMAN	V	266;266;173	ENSP00000372056:D266V;ENSP00000307006:D266V;ENSP00000426151:D173V	ENSP00000307006:D266V	D	-	2	0	IRX2	2802025	1.000000	0.71417	0.635000	0.29338	0.976000	0.68499	4.121000	0.57904	1.800000	0.52685	0.460000	0.39030	GAC		PASS	0.721	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			9	30	9	30	---	---	---	---
UGT3A1	133688	broad.mit.edu	37	5	35955751	35955751	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr5:35955751T>C	ENST00000274278.3	-	6	1648	c.1291A>G	c.(1291-1293)Aag>Gag	p.K431E	UGT3A1_ENST00000513233.1_5'Flank|UGT3A1_ENST00000503189.1_Missense_Mutation_p.K431E|UGT3A1_ENST00000507113.1_Missense_Mutation_p.K397E	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	431						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.K431E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACATACCTCTTGTCTTCTATG	0.408																																						uc003jjv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1291-1293)AAG>GAG		UDP glycosyltransferase 3 family, polypeptide A1							174.0	149.0	157.0					5																	35955751		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35955751T>C		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.1291A>G	5.37:g.35955751T>C	ENSP00000274278:p.Lys431Glu					UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.K431E|UGT3A1_uc011cor.1_Missense_Mutation_p.K397E	p.K431E	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	1448	-	all_lung(31;0.000197)		431			Extracellular (Potential).		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.1291A>G	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	.	14.49	2.550459	0.45383	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113	T;T;T	0.59502	0.26;0.26;0.26	3.25	2.0	0.26442	.	0.688893	0.12616	N	0.453442	T	0.57799	0.2078	L	0.31752	0.955	0.80722	D	1	D;B;B	0.58970	0.984;0.418;0.146	P;B;B	0.58721	0.844;0.145;0.101	T	0.53358	-0.8450	10	0.54805	T	0.06	.	8.9201	0.35605	0.0:0.0:0.3552:0.6447	.	397;431;431	E9PD17;B7Z8Q8;Q6NUS8	.;.;UD3A1_HUMAN	E	431;431;397	ENSP00000274278:K431E;ENSP00000427079:K431E;ENSP00000426100:K397E	ENSP00000274278:K431E	K	-	1	0	UGT3A1	35991508	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	0.546000	0.23284	0.366000	0.24427	0.383000	0.25322	AAG		PASS	0.408	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		34	79	34	79	---	---	---	---
UGT3A1	133688	broad.mit.edu	37	5	35966003	35966003	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr5:35966003G>A	ENST00000274278.3	-	4	685	c.328C>T	c.(328-330)Ctt>Ttt	p.L110F	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Missense_Mutation_p.L56F|UGT3A1_ENST00000503189.1_Missense_Mutation_p.L110F|UGT3A1_ENST00000507113.1_Missense_Mutation_p.L76F	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	110						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.L110F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCTTTACAAGGGCTTCAGAT	0.279																																						uc003jjv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(328-330)CTT>TTT		UDP glycosyltransferase 3 family, polypeptide A1							26.0	27.0	27.0					5																	35966003		2166	4183	6349	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35966003G>A		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.328C>T	5.37:g.35966003G>A	ENSP00000274278:p.Leu110Phe					UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.L110F|UGT3A1_uc011cor.1_Missense_Mutation_p.L76F|UGT3A1_uc003jjy.1_Missense_Mutation_p.L56F	p.L110F	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	485	-	all_lung(31;0.000197)		110			Extracellular (Potential).		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.328C>T	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	g	0	-2.799555	0.00076	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	3.0	-6.0	0.02206	.	3.643650	0.02062	N	0.050898	T	0.33235	0.0856	N	0.04724	-0.175	0.09310	N	1	B;B;B;B	0.16166	0.007;0.002;0.016;0.001	B;B;B;B	0.19666	0.024;0.019;0.026;0.012	T	0.32481	-0.9905	10	0.09084	T	0.74	.	3.1998	0.06646	0.4704:0.1766:0.265:0.0879	.	76;110;56;110	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	F	110;110;76;56	ENSP00000274278:L110F;ENSP00000427079:L110F;ENSP00000426100:L76F;ENSP00000328033:L56F	ENSP00000274278:L110F	L	-	1	0	UGT3A1	36001760	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.748000	0.00190	-4.320000	0.00056	-1.922000	0.00515	CTT		PASS	0.279	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		33	58	33	58	---	---	---	---
FBXO4	26272	broad.mit.edu	37	5	41941379	41941379	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr5:41941379G>A	ENST00000281623.3	+	7	1216	c.1160G>A	c.(1159-1161)aGa>aAa	p.R387K	FBXO4_ENST00000509134.1_3'UTR	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	387					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)	p.R387K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				AAGCGTGCAAGATGATTCTCT	0.413																																						uc003jmq.2																			1	Substitution - Missense(1)		lung(1)	liver(1)	1						c.(1159-1161)AGA>AAA		F-box only protein 4 isoform 1							119.0	113.0	115.0					5																	41941379		2203	4300	6503	SO:0001583	missense	26272				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	g.chr5:41941379G>A	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.1160G>A	5.37:g.41941379G>A	ENSP00000281623:p.Arg387Lys					FBXO4_uc003jmr.2_3'UTR	p.R387K	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN			7	1216	+		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)	387					Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	ENST00000281623.3	37	c.1160G>A	CCDS3938.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728007	0.30593	.	.	ENSG00000151876	ENST00000281623	.	.	.	5.29	2.41	0.29592	.	0.391635	0.24757	N	0.035848	T	0.41213	0.1149	L	0.36672	1.1	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11867	-1.0570	9	0.18710	T	0.47	-23.5446	7.7053	0.28646	0.3786:0.0:0.6214:0.0	.	387	Q9UKT5	FBX4_HUMAN	K	387	.	ENSP00000281623:R387K	R	+	2	0	FBXO4	41977136	0.996000	0.38824	0.985000	0.45067	0.680000	0.39746	0.612000	0.24283	0.327000	0.23409	0.556000	0.70494	AGA		PASS	0.413	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1			6	104	6	104	---	---	---	---
PDE4D	5144	broad.mit.edu	37	5	59284455	59284455	+	Silent	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr5:59284455G>A	ENST00000502484.2	-	3	355	c.132C>T	c.(130-132)cgC>cgT	p.R44R	PDE4D_ENST00000546160.1_Silent_p.R44R	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0	Pro-rich.				adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.R44R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GCTGAATATTGCGACATGAAA	0.483																																						uc003jsb.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(130-132)CGC>CGT		phosphodiesterase 4D isoform 2	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						165.0	151.0	155.0					5																	59284455		1568	3582	5150	SO:0001819	synonymous_variant	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:59284455G>A		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000502484.2:c.132C>T	5.37:g.59284455G>A						PDE4D_uc010iwj.1_Silent_p.R44R|PDE4D_uc003jse.1_Silent_p.R56R	p.R44R	NM_006203	NP_006194	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	3	345	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	Error:Variant_position_missing_in_Q08499_after_alignment					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Silent	SNP	ENST00000502484.2	37	c.132C>T	CCDS54859.1																																																																																				PASS	0.483	PDE4D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368094.3			87	36	87	36	---	---	---	---
RHOBTB3	22836	broad.mit.edu	37	5	95087983	95087983	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr5:95087983G>A	ENST00000379982.3	+	5	1119	c.611G>A	c.(610-612)aGt>aAt	p.S204N	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	204					ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)	p.S204N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		CAGAAGACAAGTGAAAAAATG	0.318																																						uc003klm.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(610-612)AGT>AAT		rho-related BTB domain containing 3							95.0	101.0	99.0					5																	95087983		2203	4300	6503	SO:0001583	missense	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95087983G>A	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.611G>A	5.37:g.95087983G>A	ENSP00000369318:p.Ser204Asn					RHOBTB3_uc003klk.1_Translation_Start_Site	p.S204N	NM_014899	NP_055714	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	5	1148	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	204					A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	37	c.611G>A	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110195	0.77210	.	.	ENSG00000164292	ENST00000379982	T	0.64803	-0.12	5.5	4.58	0.56647	.	0.201826	0.56097	D	0.000037	T	0.53594	0.1806	N	0.24115	0.695	0.80722	D	1	D	0.57257	0.979	P	0.54270	0.747	T	0.49854	-0.8895	10	0.05351	T	0.99	-22.1795	12.8295	0.57738	0.0:0.3656:0.6344:0.0	.	204	O94955	RHBT3_HUMAN	N	204	ENSP00000369318:S204N	ENSP00000369318:S204N	S	+	2	0	RHOBTB3	95113739	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.627000	0.46469	2.741000	0.93983	0.585000	0.79938	AGT		PASS	0.318	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		59	27	59	27	---	---	---	---
PCDHB10	56126	broad.mit.edu	37	5	140572692	140572692	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr5:140572692G>A	ENST00000239446.4	+	1	751	c.567G>A	c.(565-567)atG>atA	p.M189I		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	189	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.M189I(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGAAGGCATGATATATCCAG	0.502																																						uc003lix.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(565-567)ATG>ATA		protocadherin beta 10 precursor							118.0	139.0	132.0					5																	140572692		2203	4300	6503	SO:0001583	missense	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140572692G>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.567G>A	5.37:g.140572692G>A	ENSP00000239446:p.Met189Ile						p.M189I	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	741	+			189			Cadherin 2.|Extracellular (Potential).		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.567G>A	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	G	7.899	0.734045	0.15574	.	.	ENSG00000120324	ENST00000239446	T	0.01495	4.83	3.52	-2.86	0.05717	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.00936	0.0031	N	0.11064	0.09	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.47289	-0.9129	9	0.39692	T	0.17	.	0.8463	0.01161	0.2656:0.3366:0.1709:0.2268	.	189	Q9UN67	PCDBA_HUMAN	I	189	ENSP00000239446:M189I	ENSP00000239446:M189I	M	+	3	0	PCDHB10	140552876	0.000000	0.05858	0.108000	0.21378	0.838000	0.47535	-7.693000	0.00031	-0.763000	0.04658	0.556000	0.70494	ATG		PASS	0.502	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		15	178	15	178	---	---	---	---
PCDHGA1	56114	broad.mit.edu	37	5	140710767	140710767	+	Silent	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr5:140710767C>A	ENST00000517417.1	+	1	516	c.516C>A	c.(514-516)ctC>ctA	p.L172L	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Silent_p.L172L	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	172	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L172L(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACCAACTCAGCTCTAACC	0.483																																						uc003lji.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)|pancreas(1)	3						c.(514-516)CTC>CTA		protocadherin gamma subfamily A, 1 isoform 1							104.0	106.0	105.0					5																	140710767		2203	4300	6503	SO:0001819	synonymous_variant	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140710767C>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.516C>A	5.37:g.140710767C>A						PCDHGA1_uc011dan.1_Silent_p.L172L	p.L172L	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	516	+			172			Extracellular (Potential).|Cadherin 2.		Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.516C>A	CCDS54922.1																																																																																				PASS	0.483	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		95	59	95	59	---	---	---	---
SH3RF2	153769	broad.mit.edu	37	5	145383666	145383666	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr5:145383666G>A	ENST00000511217.1	+	3	746	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	SH3RF2_ENST00000359120.4_Missense_Mutation_p.E232K			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	232	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)	p.E232K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAACTGGGCAGAAGGCAAGTT	0.418																																						uc003lnt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(694-696)GAA>AAA		SH3 domain containing ring finger 2							293.0	229.0	251.0					5																	145383666		2203	4300	6503	SO:0001583	missense	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145383666G>A	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.694G>A	5.37:g.145383666G>A	ENSP00000424497:p.Glu232Lys					SH3RF2_uc011dbl.1_Missense_Mutation_p.E232K	p.E232K	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	932	+			232			SH3 2.		A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	c.694G>A	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	G	36	5.822173	0.96989	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.05996	3.36;3.36	6.17	6.17	0.99709	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.23451	0.0567	L	0.51853	1.615	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00004	-1.2548	10	0.87932	D	0	-24.568	20.4745	0.99168	0.0:0.0:1.0:0.0	.	232	Q8TEC5	SH3R2_HUMAN	K	232	ENSP00000352028:E232K;ENSP00000424497:E232K	ENSP00000352028:E232K	E	+	1	0	SH3RF2	145363859	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.367000	0.97148	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.418	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		7	123	7	123	---	---	---	---
ATP10B	23120	broad.mit.edu	37	5	159996670	159996670	+	Silent	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr5:159996670C>T	ENST00000327245.5	-	25	4617	c.3771G>A	c.(3769-3771)gtG>gtA	p.V1257V		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1257					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.V1257V(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCCGAGGAGCACGACTCCGT	0.488																																						uc003lym.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(3769-3771)GTG>GTA		ATPase, class V, type 10B							65.0	72.0	69.0					5																	159996670		2072	4212	6284	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:159996670C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.3771G>A	5.37:g.159996670C>T						ATP10B_uc010jit.1_Silent_p.V507V	p.V1257V	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		25	4618	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1257			Helical; (Potential).		Q9H725	Silent	SNP	ENST00000327245.5	37	c.3771G>A	CCDS43394.1																																																																																				PASS	0.488	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		47	31	47	31	---	---	---	---
GABRB2	2561	broad.mit.edu	37	5	160721318	160721318	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr5:160721318A>G	ENST00000393959.1	-	10	1308	c.1309T>C	c.(1309-1311)Tcc>Ccc	p.S437P	GABRB2_ENST00000517901.1_Missense_Mutation_p.S336P|GABRB2_ENST00000517547.1_Missense_Mutation_p.S239P|GABRB2_ENST00000353437.6_Missense_Mutation_p.S399P|GABRB2_ENST00000274547.2_Missense_Mutation_p.S437P|GABRB2_ENST00000520240.1_Missense_Mutation_p.S399P			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	437					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)	p.S437P(1)|p.S399P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGGATGCTGGAGGCATCATAG	0.507																																						uc003lys.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1309-1311)TCC>CCC		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						104.0	95.0	98.0					5																	160721318		2203	4300	6503	SO:0001583	missense	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160721318A>G		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1309T>C	5.37:g.160721318A>G	ENSP00000377531:p.Ser437Pro					GABRB2_uc011deh.1_Missense_Mutation_p.S238P|GABRB2_uc003lyr.1_Missense_Mutation_p.S399P|GABRB2_uc003lyt.1_Missense_Mutation_p.S399P|GABRB2_uc010jiu.1_Missense_Mutation_p.S336P	p.S437P	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1527	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	437			Cytoplasmic (Probable).		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.1309T>C	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.445020	0.63178	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.23	1.24	0.21308	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.350509	0.31071	N	0.008315	D	0.82802	0.5116	L	0.42632	1.34	0.54753	D	0.999987	P;B;B;B	0.35208	0.49;0.007;0.4;0.005	P;B;P;B	0.46850	0.465;0.033;0.529;0.031	T	0.75895	-0.3156	10	0.42905	T	0.14	.	8.2376	0.31636	0.6157:0.26:0.0:0.1243	.	239;336;437;399	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	P	437;437;399;399;336;239	ENSP00000377531:S437P;ENSP00000274547:S437P;ENSP00000274546:S399P;ENSP00000429320:S399P;ENSP00000430532:S336P;ENSP00000429750:S239P	ENSP00000274547:S437P	S	-	1	0	GABRB2	160653896	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	2.909000	0.48758	-0.028000	0.13850	0.528000	0.53228	TCC		PASS	0.507	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			7	66	7	66	---	---	---	---
NRN1	51299	broad.mit.edu	37	6	6002585	6002585	+	Splice_Site	SNP	C	C	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr6:6002585C>G	ENST00000244766.2	-	2	418		c.e2+1		NRN1_ENST00000495850.1_Splice_Site	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1						nervous system development (GO:0007399)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|anchored component of membrane (GO:0031225)|cell junction (GO:0030054)|synapse (GO:0045202)		p.?(1)		endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		AGGACACTTACGTGCACACGG	0.622																																						uc003mwu.2																			1	Unknown(1)		lung(1)		0						c.e2+1		neuritin precursor							143.0	118.0	127.0					6																	6002585		2203	4300	6503	SO:0001630	splice_region_variant	51299					anchored to membrane|plasma membrane		g.chr6:6002585C>G	AF136631	CCDS4495.1, CCDS75393.1	6p25.1	2008-02-05			ENSG00000124785	ENSG00000124785			17972	protein-coding gene	gene with protein product		607409				9122250	Standard	NM_016588		Approved	NRN	uc003mwu.3	Q9NPD7	OTTHUMG00000014184	ENST00000244766.2:c.200+1G>C	6.37:g.6002585C>G						NRN1_uc003mwt.2_Splice_Site_p.T93_splice	p.T67_splice	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.00415)	2	851	-	Ovarian(93;0.0816)	all_hematologic(90;0.151)						B2RA93|Q7Z4Y1	Splice_Site	SNP	ENST00000244766.2	37	c.200_splice	CCDS4495.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705848	0.68615	.	.	ENSG00000124785	ENST00000244766	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9329	0.64007	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NRN1	5947584	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.443000	0.73447	2.185000	0.69588	0.462000	0.41574	.		PASS	0.622	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039753.1		Intron	64	164	64	164	---	---	---	---
OR2J3	442186	broad.mit.edu	37	6	29080597	29080597	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr6:29080597G>T	ENST00000377169.1	+	1	930	c.930G>T	c.(928-930)tgG>tgT	p.W310C		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W310C(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TAATGGGGTGGGAATGAGCCT	0.388																																						uc011dll.1																			1	Substitution - Missense(1)		lung(1)		0						c.(928-930)TGG>TGT		olfactory receptor, family 2, subfamily J,							45.0	48.0	47.0					6																	29080597		1265	2588	3853	SO:0001583	missense	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29080597G>T		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.930G>T	6.37:g.29080597G>T	ENSP00000366374:p.Trp310Cys						p.W310C	NM_001005216	NP_001005216	O76001	OR2J3_HUMAN			1	930	+			310			Cytoplasmic (Potential).		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	c.930G>T	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	G	7.033	0.561012	0.13498	.	.	ENSG00000204701	ENST00000377169	T	0.32023	1.47	2.5	-2.6	0.06190	.	.	.	.	.	T	0.04227	0.0117	N	0.04508	-0.205	0.22880	N	0.998618	P	0.36495	0.556	B	0.36289	0.221	T	0.29882	-0.9997	9	0.87932	D	0	.	4.7266	0.12943	0.3101:0.0:0.5245:0.1654	.	310	O76001	OR2J3_HUMAN	C	310	ENSP00000366374:W310C	ENSP00000366374:W310C	W	+	3	0	OR2J3	29188576	0.001000	0.12720	0.001000	0.08648	0.019000	0.09904	0.098000	0.15189	-0.530000	0.06349	0.491000	0.48974	TGG		PASS	0.388	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			17	51	17	51	---	---	---	---
OPN5	221391	broad.mit.edu	37	6	47754339	47754339	+	Silent	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr6:47754339C>T	ENST00000371211.2	+	2	247	c.219C>T	c.(217-219)atC>atT	p.I73I	OPN5_ENST00000393699.2_Silent_p.I73I|OPN5_ENST00000489301.2_Silent_p.I73I	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	73					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.I73I(1)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TAATGACTATCAATTTAGCAG	0.403																																					Melanoma(28;740 973 10870 42660 45347)	uc003ozc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(217-219)ATC>ATT		opsin 5 isoform 1							139.0	128.0	132.0					6																	47754339		2203	4300	6503	SO:0001819	synonymous_variant	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47754339C>T	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.219C>T	6.37:g.47754339C>T						OPN5_uc003ozd.2_5'Flank	p.I73I	NM_181744	NP_859528	Q6U736	OPN5_HUMAN			2	224	+			73			Cytoplasmic (Potential).		A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Silent	SNP	ENST00000371211.2	37	c.219C>T	CCDS4923.1																																																																																				PASS	0.403	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		11	152	11	152	---	---	---	---
BAI3	577	broad.mit.edu	37	6	70049312	70049312	+	Silent	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr6:70049312C>T	ENST00000370598.1	+	26	4196	c.3375C>T	c.(3373-3375)tcC>tcT	p.S1125S	BAI3_ENST00000238918.8_Silent_p.S331S|BAI3_ENST00000546190.1_Silent_p.S89S	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1125					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S1125S(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATAAACGCTCCATATTGTTTC	0.468																																						uc003pev.3																			1	Substitution - coding silent(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(3373-3375)TCC>TCT		brain-specific angiogenesis inhibitor 3							287.0	265.0	272.0					6																	70049312		2203	4300	6503	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70049312C>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3375C>T	6.37:g.70049312C>T						BAI3_uc010kak.2_Silent_p.S1125S|BAI3_uc011dxx.1_Silent_p.S331S|BAI3_uc003pex.1_Silent_p.S255S	p.S1125S	NM_001704	NP_001695	O60242	BAI3_HUMAN			26	3823	+		all_lung(197;0.212)	1125			Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.3375C>T	CCDS4968.1																																																																																				PASS	0.468	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			136	201	136	201	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87968709	87968709	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr6:87968709C>G	ENST00000369577.3	+	8	5405	c.5362C>G	c.(5362-5364)Caa>Gaa	p.Q1788E	ZNF292_ENST00000339907.4_Missense_Mutation_p.Q1783E	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1788						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.Q1788E(1)|p.Q1643E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ACAAAATGCTCAAATAAATTA	0.343																																						uc003plm.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(5362-5364)CAA>GAA		zinc finger protein 292							37.0	37.0	37.0					6																	87968709		1828	4087	5915	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87968709C>G	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.5362C>G	6.37:g.87968709C>G	ENSP00000358590:p.Gln1788Glu						p.Q1788E	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	5403	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1788					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.5362C>G	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474248	0.26423	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.07114	3.22;3.23	5.59	5.59	0.84812	.	0.156820	0.42682	D	0.000675	T	0.03608	0.0103	N	0.24115	0.695	0.37416	D	0.91343	B	0.23377	0.084	B	0.16289	0.015	T	0.42649	-0.9439	10	0.36615	T	0.2	.	19.9658	0.97266	0.0:1.0:0.0:0.0	.	1788	O60281	ZN292_HUMAN	E	1788;1783	ENSP00000358590:Q1788E;ENSP00000342847:Q1783E	ENSP00000342847:Q1783E	Q	+	1	0	ZNF292	88025428	0.997000	0.39634	0.916000	0.36221	0.944000	0.59088	4.033000	0.57282	2.782000	0.95742	0.557000	0.71058	CAA		PASS	0.343	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		3	37	3	37	---	---	---	---
GRIK2	2898	broad.mit.edu	37	6	102247544	102247544	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr6:102247544G>A	ENST00000421544.1	+	7	1463	c.973G>A	c.(973-975)Gat>Aat	p.D325N	GRIK2_ENST00000413795.1_Missense_Mutation_p.D325N|GRIK2_ENST00000369137.3_Missense_Mutation_p.D325N|GRIK2_ENST00000318991.6_Missense_Mutation_p.D325N|GRIK2_ENST00000369134.4_Missense_Mutation_p.D276N|GRIK2_ENST00000369138.1_Missense_Mutation_p.D325N	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	325					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.D325N(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TCTAATGTATGATGCTGTGCA	0.463																																						uc003pqp.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(973-975)GAT>AAT		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						218.0	194.0	202.0					6																	102247544		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102247544G>A		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.973G>A	6.37:g.102247544G>A	ENSP00000397026:p.Asp325Asn					GRIK2_uc003pqn.2_Missense_Mutation_p.D325N|GRIK2_uc003pqo.3_Missense_Mutation_p.D325N|GRIK2_uc010kcw.2_Missense_Mutation_p.D325N	p.D325N	NM_021956	NP_068775	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	7	1222	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	325			Extracellular (Potential).		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.973G>A	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	35	5.547531	0.96488	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610	T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.44	5.44	0.79542	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.66147	0.2760	M	0.92507	3.315	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.81914	0.993;0.995;0.988	T	0.75436	-0.3318	10	0.87932	D	0	.	19.2533	0.93933	0.0:0.0:1.0:0.0	.	325;325;325	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	N	325;325;325;325;325;325;276;287;38	ENSP00000397026:D325N;ENSP00000405596:D325N;ENSP00000358134:D325N;ENSP00000358133:D325N;ENSP00000313276:D325N;ENSP00000358130:D276N;ENSP00000391988:D38N	ENSP00000313276:D325N	D	+	1	0	GRIK2	102354237	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.447000	0.97595	2.552000	0.86080	0.655000	0.94253	GAT		PASS	0.463	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			74	52	74	52	---	---	---	---
ARMC2	84071	broad.mit.edu	37	6	109225492	109225492	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr6:109225492G>A	ENST00000392644.4	+	8	1075	c.907G>A	c.(907-909)Gga>Aga	p.G303R	ARMC2_ENST00000368972.3_Missense_Mutation_p.G138R	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	303								p.G296R(1)		endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TTTAGAGGAAGGAAACATGCT	0.393																																						uc003pss.3																			1	Substitution - Missense(1)		lung(1)		0						c.(907-909)GGA>AGA		armadillo repeat containing 2							194.0	199.0	197.0					6																	109225492		2203	4300	6503	SO:0001583	missense	84071						binding	g.chr6:109225492G>A	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.907G>A	6.37:g.109225492G>A	ENSP00000376417:p.Gly303Arg					ARMC2_uc011eao.1_Missense_Mutation_p.G138R	p.G303R	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	8	1081	+		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)	303					A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	ENST00000392644.4	37	c.907G>A	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	G	15.51	2.856441	0.51376	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.29917	1.55;1.56	5.81	5.81	0.92471	Armadillo-like helical (1);	0.213782	0.49916	D	0.000139	T	0.28797	0.0714	L	0.48362	1.52	0.39679	D	0.97087	D	0.56035	0.974	P	0.48454	0.578	T	0.01007	-1.1483	10	0.40728	T	0.16	.	20.0758	0.97742	0.0:0.0:1.0:0.0	.	303	Q8NEN0	ARMC2_HUMAN	R	138;303	ENSP00000357968:G138R;ENSP00000376417:G303R	ENSP00000357968:G138R	G	+	1	0	ARMC2	109332185	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.440000	0.66563	2.737000	0.93849	0.655000	0.94253	GGA		PASS	0.393	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131		114	58	114	58	---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131222122	131222122	+	Silent	SNP	T	T	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr6:131222122T>A	ENST00000337057.3	-	7	1309	c.1128A>T	c.(1126-1128)gcA>gcT	p.A376A	EPB41L2_ENST00000529208.1_Silent_p.A376A|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000527411.1_Silent_p.A376A|EPB41L2_ENST00000525271.1_Silent_p.A376A|EPB41L2_ENST00000530481.1_Silent_p.A376A|EPB41L2_ENST00000392427.3_Silent_p.A376A|EPB41L2_ENST00000527659.1_Silent_p.A376A|EPB41L2_ENST00000528282.1_Silent_p.A376A|EPB41L2_ENST00000445890.2_Silent_p.A376A|EPB41L2_ENST00000368128.2_Silent_p.A376A|EPB41L2_ENST00000525193.1_Silent_p.A376A	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	376	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)	p.A376A(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TGTGCAGCTCTGCCACCTTCT	0.478																																						uc003qch.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1126-1128)GCA>GCT		erythrocyte membrane protein band 4.1-like 2							213.0	193.0	200.0					6																	131222122		2203	4300	6503	SO:0001819	synonymous_variant	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131222122T>A	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1128A>T	6.37:g.131222122T>A						EPB41L2_uc003qcg.1_Silent_p.A376A|EPB41L2_uc011eby.1_Silent_p.A376A|EPB41L2_uc003qci.2_Silent_p.A376A|EPB41L2_uc010kfk.2_Silent_p.A376A|EPB41L2_uc010kfl.1_Silent_p.A376A	p.A376A	NM_001431	NP_001422	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	7	1310	-	Breast(56;0.0639)		376			FERM.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Silent	SNP	ENST00000337057.3	37	c.1128A>T	CCDS5141.1																																																																																				PASS	0.478	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			159	69	159	69	---	---	---	---
KIAA1244	57221	broad.mit.edu	37	6	138607837	138607837	+	Splice_Site	SNP	G	G	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr6:138607837G>C	ENST00000251691.4	+	16	2735		c.e16-1			NM_020340.4	NP_065073.3			KIAA1244									p.?(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CCATGTTCCAGGCGTGGCATT	0.478																																						uc003qhu.2																			1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e16-1		brefeldin A-inhibited guanine							101.0	104.0	103.0					6																	138607837		2203	4300	6503	SO:0001630	splice_region_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138607837G>C	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2570-1G>C	6.37:g.138607837G>C							p.G857_splice	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	16	2570	+	Breast(32;0.135)								Splice_Site	SNP	ENST00000251691.4	37	c.2570_splice	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810307	0.70797	.	.	ENSG00000112379	ENST00000251691	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2529	0.93932	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1244	138649530	1.000000	0.71417	0.987000	0.45799	0.645000	0.38454	9.017000	0.93651	2.785000	0.95823	0.655000	0.94253	.		PASS	0.478	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340	Intron	5	115	5	115	---	---	---	---
TMEM196	256130	broad.mit.edu	37	7	19765275	19765275	+	Silent	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr7:19765275G>T	ENST00000405764.3	-	3	1017	c.321C>A	c.(319-321)tcC>tcA	p.S107S	TMEM196_ENST00000422233.1_Silent_p.S39S|TMEM196_ENST00000493519.1_Silent_p.S39S|TMEM196_ENST00000405844.1_Silent_p.S107S|TMEM196_ENST00000433641.1_Silent_p.S39S	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	113						integral component of membrane (GO:0016021)		p.S107S(1)|p.S39S(1)		breast(1)|large_intestine(1)|lung(4)	6						CGAGAGACATGGAGGCAAGGT	0.527																																						uc011jyg.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(319-321)TCC>TCA		transmembrane protein 196							106.0	99.0	102.0					7																	19765275		2203	4300	6503	SO:0001819	synonymous_variant	256130					integral to membrane		g.chr7:19765275G>T		CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.321C>A	7.37:g.19765275G>T						TMEM196_uc003sur.2_RNA	p.S107S	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN			3	406	-			113			Helical; (Potential).		Q8N6I6	Silent	SNP	ENST00000405764.3	37	c.321C>A	CCDS34607.2																																																																																				PASS	0.527	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326499.1	NM_152774		36	30	36	30	---	---	---	---
CREB5	9586	broad.mit.edu	37	7	28857735	28857735	+	Silent	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr7:28857735G>A	ENST00000357727.2	+	10	1692	c.1302G>A	c.(1300-1302)ttG>ttA	p.L434L	CREB5_ENST00000409603.1_Silent_p.L401L|CREB5_ENST00000396300.2_Silent_p.L427L|CREB5_ENST00000396299.2_Silent_p.L401L|CREB5_ENST00000396298.2_Silent_p.L295L	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	434	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L295L(1)|p.L434L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TGAAACAGTTGTTGTTAACAC	0.378																																						uc003szq.2																			2	Substitution - coding silent(2)		lung(2)	skin(2)	2						c.(1300-1302)TTG>TTA		cAMP responsive element binding protein 5							131.0	127.0	128.0					7																	28857735		2203	4300	6503	SO:0001819	synonymous_variant	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28857735G>A	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.1302G>A	7.37:g.28857735G>A						CREB5_uc003szo.2_Silent_p.L401L|CREB5_uc003szr.2_Silent_p.L427L|CREB5_uc003szs.2_Silent_p.L295L	p.L434L	NM_182898	NP_878901	Q02930	CREB5_HUMAN			10	1692	+			434					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Silent	SNP	ENST00000357727.2	37	c.1302G>A	CCDS5417.1																																																																																				PASS	0.378	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		25	82	25	82	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55268990	55268990	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr7:55268990C>T	ENST00000275493.2	+	25	3233	c.3056C>T	c.(3055-3057)cCa>cTa	p.P1019L	EGFR_ENST00000455089.1_Missense_Mutation_p.P974L|EGFR_ENST00000454757.2_Missense_Mutation_p.P966L|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1019					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.P1019L(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TACCTCATCCCACAGCAGGGC	0.537		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		1	Substitution - Missense(1)		lung(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(3055-3057)CCA>CTA		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						143.0	128.0	133.0					7																	55268990		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55268990C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.3056C>T	7.37:g.55268990C>T	ENSP00000275493:p.Pro1019Leu	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_Missense_Mutation_p.P974L|EGFR_uc011kco.1_Missense_Mutation_p.P966L	p.P1019L	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		25	3302	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		1019			Cytoplasmic (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.3056C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099365	0.94197	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.75589	-0.89;-0.95;-0.94	5.65	5.65	0.86999	Protein kinase-like domain (1);	0.046546	0.85682	D	0.000000	D	0.89047	0.6604	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.968;0.989	D	0.90138	0.4211	10	0.62326	D	0.03	.	18.6688	0.91502	0.0:1.0:0.0:0.0	.	974;1019	Q504U8;P00533	.;EGFR_HUMAN	L	974;889;1019;966	ENSP00000415559:P974L;ENSP00000275493:P1019L;ENSP00000395243:P966L	ENSP00000275493:P1019L	P	+	2	0	EGFR	55236484	1.000000	0.71417	0.866000	0.34008	0.802000	0.45316	7.699000	0.84547	2.827000	0.97445	0.650000	0.86243	CCA		PASS	0.537	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		64	37	64	37	---	---	---	---
EPHB4	2050	broad.mit.edu	37	7	100404160	100404160	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr7:100404160G>A	ENST00000358173.3	-	14	2834	c.2366C>T	c.(2365-2367)cCg>cTg	p.P789L	EPHB4_ENST00000360620.3_Missense_Mutation_p.P789L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	789	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P789L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AATGGCCTCCGGGGCAGTCCA	0.577																																					GBM(200;2113 3072 25865 52728)	uc003uwn.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15						c.(2365-2367)CCG>CTG		EPH receptor B4 precursor							113.0	100.0	105.0					7																	100404160		2203	4300	6503	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100404160G>A	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2366C>T	7.37:g.100404160G>A	ENSP00000350896:p.Pro789Leu					EPHB4_uc003uwm.1_Missense_Mutation_p.P696L|EPHB4_uc010lhj.1_Missense_Mutation_p.P789L	p.P789L	NM_004444	NP_004435	P54760	EPHB4_HUMAN			14	2857	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		789			Cytoplasmic (Potential).|Protein kinase.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.2366C>T	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562661	0.86335	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	D;D	0.89810	-2.57;-2.57	4.68	4.68	0.58851	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	D	0.000105	D	0.94676	0.8283	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95512	0.8587	10	0.87932	D	0	.	15.0759	0.72077	0.0:0.0:1.0:0.0	.	789;789	Q96L35;P54760	.;EPHB4_HUMAN	L	789	ENSP00000353833:P789L;ENSP00000350896:P789L	ENSP00000350896:P789L	P	-	2	0	EPHB4	100242096	1.000000	0.71417	0.983000	0.44433	0.692000	0.40212	9.869000	0.99810	2.139000	0.66308	0.455000	0.32223	CCG		PASS	0.577	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		4	128	4	128	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103124226	103124226	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr7:103124226G>A	ENST00000428762.1	-	62	10214	c.10055C>T	c.(10054-10056)cCc>cTc	p.P3352L	RELN_ENST00000343529.5_Missense_Mutation_p.P3352L|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.P3352L|RN7SKP86_ENST00000410454.1_RNA|RELN_ENST00000473945.1_5'UTR	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3352					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.P3352L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CACAGCGTGGGGGCCACTCAG	0.507																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(10054-10056)CCC>CTC		reelin isoform a							155.0	137.0	143.0					7																	103124226		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103124226G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.10055C>T	7.37:g.103124226G>A	ENSP00000392423:p.Pro3352Leu					RELN_uc010liz.2_Missense_Mutation_p.P3352L	p.P3352L	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	62	10215	-			3352					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.10055C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724996	0.89298	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.25085	1.83;1.82;1.83	5.73	5.73	0.89815	.	0.128780	0.53938	D	0.000050	T	0.47691	0.1459	M	0.62723	1.935	0.80722	D	1	P;B	0.44344	0.833;0.311	P;B	0.55871	0.786;0.103	T	0.36768	-0.9734	10	0.87932	D	0	.	19.8959	0.96958	0.0:0.0:1.0:0.0	.	3352;3352	P78509-2;P78509	.;RELN_HUMAN	L	3352;3352;3352;869;3352	ENSP00000392423:P3352L;ENSP00000345694:P3352L;ENSP00000388446:P3352L	ENSP00000345694:P3352L	P	-	2	0	RELN	102911462	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.205000	0.95048	2.704000	0.92352	0.655000	0.94253	CCC		PASS	0.507	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		63	86	63	86	---	---	---	---
GPR37	2861	broad.mit.edu	37	7	124386657	124386657	+	Silent	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr7:124386657G>T	ENST00000303921.2	-	2	2414	c.1764C>A	c.(1762-1764)acC>acA	p.T588T		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	588					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)	p.T588T(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CGAGTTCCGTGGTGTACTCGT	0.502																																						uc003vli.2																			2	Substitution - coding silent(2)		lung(1)|kidney(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1762-1764)ACC>ACA		G protein-coupled receptor 37 precursor							184.0	154.0	164.0					7																	124386657		2203	4300	6503	SO:0001819	synonymous_variant	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124386657G>T		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1764C>A	7.37:g.124386657G>T							p.T588T	NM_005302	NP_005293	O15354	GPR37_HUMAN			2	2415	-			588			Cytoplasmic (Potential).		A4D0Y6|O00348|O14768|Q8TD39	Silent	SNP	ENST00000303921.2	37	c.1764C>A	CCDS5792.1																																																																																				PASS	0.502	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		4	194	4	194	---	---	---	---
OR2A25	392138	broad.mit.edu	37	7	143771467	143771467	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr7:143771467C>T	ENST00000408898.2	+	1	193	c.155C>T	c.(154-156)tCc>tTc	p.S52F		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S52F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TCACTGGACTCCAGACTCCAC	0.572																																						uc011ktx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(154-156)TCC>TTC		olfactory receptor, family 2, subfamily A,							81.0	83.0	82.0					7																	143771467		2203	4300	6503	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771467C>T		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.155C>T	7.37:g.143771467C>T	ENSP00000386167:p.Ser52Phe						p.S52F	NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN			1	155	+	Melanoma(164;0.0783)		52			Cytoplasmic (Potential).		B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.155C>T	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	C	5.072	0.198902	0.09652	.	.	ENSG00000221933	ENST00000408898	T	0.01099	5.34	4.88	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03263	0.0095	M	0.89030	3	0.09310	N	1	P	0.38642	0.641	B	0.38500	0.275	T	0.20672	-1.0268	9	0.30854	T	0.27	-0.5103	12.8445	0.57821	0.0:0.6857:0.3143:0.0	.	52	A4D2G3	O2A25_HUMAN	F	52	ENSP00000386167:S52F	ENSP00000386167:S52F	S	+	2	0	OR2A25	143402400	0.000000	0.05858	0.957000	0.39632	0.102000	0.19082	-0.562000	0.05950	0.604000	0.29930	0.563000	0.77884	TCC		PASS	0.572	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			42	77	42	77	---	---	---	---
OR2A25	392138	broad.mit.edu	37	7	143771729	143771729	+	Silent	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr7:143771729C>T	ENST00000408898.2	+	1	455	c.417C>T	c.(415-417)gtC>gtT	p.V139V		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V139V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CCTGGAAAGTCTGCATCACTT	0.488																																						uc011ktx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(415-417)GTC>GTT		olfactory receptor, family 2, subfamily A,							149.0	151.0	151.0					7																	143771729		2195	4300	6495	SO:0001819	synonymous_variant	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771729C>T		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.417C>T	7.37:g.143771729C>T							p.V139V	NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN			1	417	+	Melanoma(164;0.0783)		139			Helical; Name=4; (Potential).		B2RNC9	Silent	SNP	ENST00000408898.2	37	c.417C>T	CCDS43669.1																																																																																				PASS	0.488	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			67	119	67	119	---	---	---	---
OR2A25	392138	broad.mit.edu	37	7	143771835	143771835	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr7:143771835C>T	ENST00000408898.2	+	1	561	c.523C>T	c.(523-525)Cac>Tac	p.H175Y		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H175Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GAAACTTAATCACTTTTTCTG	0.463																																						uc011ktx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(523-525)CAC>TAC		olfactory receptor, family 2, subfamily A,							167.0	166.0	167.0					7																	143771835		2060	4255	6315	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771835C>T		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.523C>T	7.37:g.143771835C>T	ENSP00000386167:p.His175Tyr						p.H175Y	NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN			1	523	+	Melanoma(164;0.0783)		175			Extracellular (Potential).		B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.523C>T	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172028	0.38315	.	.	ENSG00000221933	ENST00000408898	T	0.00183	8.6	4.58	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00695	0.0023	M	0.86573	2.825	0.31735	N	0.636567	D	0.89917	1.0	D	0.91635	0.999	T	0.40850	-0.9541	9	0.72032	D	0.01	-8.5333	14.906	0.70718	0.0:1.0:0.0:0.0	.	175	A4D2G3	O2A25_HUMAN	Y	175	ENSP00000386167:H175Y	ENSP00000386167:H175Y	H	+	1	0	OR2A25	143402768	0.949000	0.32298	0.933000	0.37362	0.356000	0.29392	2.079000	0.41577	2.368000	0.80403	0.563000	0.77884	CAC		PASS	0.463	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			56	146	56	146	---	---	---	---
DPP6	1804	broad.mit.edu	37	7	154595609	154595609	+	Silent	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr7:154595609C>T	ENST00000377770.3	+	14	1584	c.1443C>T	c.(1441-1443)acC>acT	p.T481T	DPP6_ENST00000404039.1_Silent_p.T417T|DPP6_ENST00000427557.1_Silent_p.T374T|DPP6_ENST00000332007.3_Silent_p.T419T			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	481					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.T417T(1)|p.T419T(1)|p.T481T(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGTCCATCACCTCCGGGGACT	0.572																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2																			3	Substitution - coding silent(3)		lung(3)	pancreas(3)|breast(1)	4						c.(1441-1443)ACC>ACT		dipeptidyl-peptidase 6 isoform 1							71.0	75.0	74.0					7																	154595609		2075	4203	6278	SO:0001819	synonymous_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154595609C>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1443C>T	7.37:g.154595609C>T						DPP6_uc003wli.2_Silent_p.T417T|DPP6_uc003wlm.2_Silent_p.T419T|DPP6_uc011kvq.1_Silent_p.T374T	p.T481T	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		14	1572	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	481			Extracellular (Potential).			Silent	SNP	ENST00000377770.3	37	c.1443C>T																																																																																					PASS	0.572	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		11	9	11	9	---	---	---	---
RAB11FIP1	80223	broad.mit.edu	37	8	37729089	37729089	+	Silent	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr8:37729089C>A	ENST00000330843.4	-	4	3243	c.3231G>T	c.(3229-3231)ccG>ccT	p.P1077P	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1077					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)		p.P1077P(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CATTTCCCATCGGTTTTTCTT	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xkm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3229-3231)CCG>CCT		RAB11 family interacting protein 1 isoform 3							152.0	166.0	161.0					8																	37729089		2203	4300	6503	SO:0001819	synonymous_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37729089C>A	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3231G>T	8.37:g.37729089C>A			OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	872	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Silent_p.P406P|RAB11FIP1_uc003xko.1_Silent_p.P406P|RAB11FIP1_uc003xkp.1_Intron	p.P1077P	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	3275	-		Lung NSC(58;0.118)|all_lung(54;0.195)	1077					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	ENST00000330843.4	37	c.3231G>T	CCDS34882.1																																																																																				PASS	0.542	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		13	729	13	729	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61707586	61707586	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr8:61707586A>C	ENST00000423902.2	+	4	2617	c.2138A>C	c.(2137-2139)aAg>aCg	p.K713T	CHD7_ENST00000525508.1_Missense_Mutation_p.K713T|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	713	Lys-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.K713T(2)|p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTGAAGAAAAAGGTCAACAAG	0.408																																						uc003xue.2																			3	Substitution - Missense(2)|Insertion - In frame(1)	p.556_871dup(1)	lung(3)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(2137-2139)AAG>ACG		chromodomain helicase DNA binding protein 7							79.0	80.0	80.0					8																	61707586		1825	4071	5896	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61707586A>C	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2138A>C	8.37:g.61707586A>C	ENSP00000392028:p.Lys713Thr						p.K713T	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		4	2615	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	713			Lys-rich.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.2138A>C	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.860205	0.71834	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;T	0.83163	-1.69;-1.3	5.46	5.46	0.80206	.	0.000000	0.43260	D	0.000593	T	0.74794	0.3763	L	0.36672	1.1	0.54753	D	0.99998	P	0.43477	0.808	B	0.33960	0.173	T	0.79694	-0.1696	10	0.87932	D	0	-28.1558	15.8384	0.78818	1.0:0.0:0.0:0.0	.	713	Q9P2D1	CHD7_HUMAN	T	713	ENSP00000392028:K713T;ENSP00000436027:K713T	ENSP00000307304:K713T	K	+	2	0	CHD7	61870140	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.486000	0.81215	2.191000	0.70037	0.533000	0.62120	AAG		PASS	0.408	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		35	66	35	66	---	---	---	---
ATP6V1C1	528	broad.mit.edu	37	8	104054576	104054576	+	Silent	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr8:104054576G>T	ENST00000395862.3	+	3	300	c.141G>T	c.(139-141)acG>acT	p.T47T	ATP6V1C1_ENST00000518738.1_Silent_p.T47T|ATP6V1C1_ENST00000518857.1_Intron|ATP6V1C1_ENST00000521514.1_5'UTR	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	47					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)	p.T47T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			AGGTTGGCACGTTGGATGTCT	0.358																																						uc003ykz.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(139-141)ACG>ACT		ATPase, H+ transporting, lysosomal V1 subunit							223.0	210.0	214.0					8																	104054576		2203	4300	6503	SO:0001819	synonymous_variant	528				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:104054576G>T	X69151	CCDS6296.1	8p22.3	2011-05-24	2006-01-13	2002-05-10	ENSG00000155097	ENSG00000155097	3.6.3.14	"""ATPases / V-type"""	856	protein-coding gene	gene with protein product		603097	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1"""	ATP6D, ATP6C		8250920, 14580332	Standard	NM_001695		Approved	VATC, Vma5	uc003ykz.4	P21283	OTTHUMG00000164761	ENST00000395862.3:c.141G>T	8.37:g.104054576G>T						ATP6V1C1_uc010mbz.2_5'UTR|ATP6V1C1_uc003yla.2_Silent_p.T47T|ATP6V1C1_uc011lhl.1_Intron	p.T47T	NM_001695	NP_001686	P21283	VATC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)		3	386	+	Lung NSC(17;0.000427)|all_lung(17;0.000533)		47						Silent	SNP	ENST00000395862.3	37	c.141G>T	CCDS6296.1																																																																																				PASS	0.358	ATP6V1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380101.1	NM_001695		47	131	47	131	---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18826299	18826299	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr9:18826299G>T	ENST00000380548.4	+	22	4291	c.3952G>T	c.(3952-3954)Gtc>Ttc	p.V1318F	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.V19F	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1318	Ig-like C2-type 3.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V1318F(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TGAAGCTGAAGTCACTTGGTT	0.483																																						uc003zne.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(3952-3954)GTC>TTC		ADAMTS-like 1 isoform 4 precursor							31.0	33.0	32.0					9																	18826299		1985	4164	6149	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18826299G>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.3952G>T	9.37:g.18826299G>T	ENSP00000369921:p.Val1318Phe					ADAMTSL1_uc003znf.3_Missense_Mutation_p.V19F	p.V1318F	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	22	4079	+			1318			Ig-like C2-type 3.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.3952G>T	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717606	0.68844	.	.	ENSG00000178031	ENST00000380548;ENST00000380545;ENST00000316239;ENST00000380541	T;T	0.76448	-1.02;-1.02	4.92	4.0	0.46444	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.072850	0.53938	D	0.000054	D	0.82545	0.5060	L	0.58428	1.81	0.40693	D	0.982411	D;D	0.63880	0.992;0.993	P;P	0.58077	0.822;0.832	T	0.82892	-0.0232	10	0.40728	T	0.16	.	14.6314	0.68657	0.0:0.2766:0.7234:0.0	.	19;1318	Q8N6G6-6;Q8N6G6	.;ATL1_HUMAN	F	1318;19;22;22	ENSP00000369921:V1318F;ENSP00000369918:V19F	ENSP00000325584:V22F	V	+	1	0	ADAMTSL1	18816299	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.800000	0.38833	1.167000	0.42706	0.455000	0.32223	GTC		PASS	0.483	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			15	5	15	5	---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18826395	18826395	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr9:18826395C>A	ENST00000380548.4	+	22	4387	c.4048C>A	c.(4048-4050)Ctg>Atg	p.L1350M	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.L51M	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1350	Ig-like C2-type 3.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L1350M(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGATCAGGGCCTGTACTCCTG	0.557																																						uc003zne.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(4048-4050)CTG>ATG		ADAMTS-like 1 isoform 4 precursor							45.0	47.0	46.0					9																	18826395		2081	4220	6301	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18826395C>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.4048C>A	9.37:g.18826395C>A	ENSP00000369921:p.Leu1350Met					ADAMTSL1_uc003znf.3_Missense_Mutation_p.L51M	p.L1350M	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	22	4175	+			1350			Ig-like C2-type 3.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.4048C>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136760	0.37728	.	.	ENSG00000178031	ENST00000380548;ENST00000380545;ENST00000316239;ENST00000380541	T;T	0.67345	-0.26;-0.26	5.46	2.56	0.30785	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.760161	0.12027	N	0.506351	T	0.63177	0.2489	N	0.19112	0.55	0.28711	N	0.903541	D;D	0.89917	1.0;0.966	D;P	0.72338	0.977;0.837	T	0.54282	-0.8317	10	0.52906	T	0.07	.	1.076	0.01632	0.1647:0.415:0.1609:0.2594	.	51;1350	Q8N6G6-6;Q8N6G6	.;ATL1_HUMAN	M	1350;51;54;54	ENSP00000369921:L1350M;ENSP00000369918:L51M	ENSP00000325584:L54M	L	+	1	2	ADAMTSL1	18816395	0.084000	0.21492	0.998000	0.56505	0.484000	0.33280	0.199000	0.17237	0.258000	0.21686	-0.266000	0.10368	CTG		PASS	0.557	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			3	30	3	30	---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104356829	104356829	+	Intron	SNP	C	C	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr9:104356829C>G	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.T128T	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.T128T(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GCTGCCAGTCCGTCAGGTTGT	0.507																																						uc004bbr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(382-384)ACG>ACC		protein phosphatase 3 regulatory subunit B, beta	Cyclosporine(DB00091)						114.0	103.0	107.0					9																	104356829		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104356829C>G		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15187G>C	9.37:g.104356829C>G						GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_RNA	p.T128T	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN			1	455	-		Acute lymphoblastic leukemia(62;0.0527)	125					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.384G>C	CCDS6758.1																																																																																				PASS	0.507	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			68	37	68	37	---	---	---	---
TLR4	7099	broad.mit.edu	37	9	120475813	120475813	+	Silent	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr9:120475813C>A	ENST00000355622.6	+	3	1508	c.1407C>A	c.(1405-1407)ggC>ggA	p.G469G	TLR4_ENST00000394487.4_Silent_p.G429G|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	469					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.G469G(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TCTTCAATGGCTTGTCCAGTC	0.418																																						uc004bjz.2																			1	Substitution - coding silent(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(1405-1407)GGC>GGA		toll-like receptor 4 precursor							96.0	98.0	98.0					9																	120475813		2203	4300	6503	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475813C>A	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1407C>A	9.37:g.120475813C>A						TLR4_uc004bka.2_Silent_p.G429G|TLR4_uc004bkb.2_Silent_p.G269G	p.G469G	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	1698	+			469			Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.1407C>A	CCDS6818.1																																																																																				PASS	0.418	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		61	124	61	124	---	---	---	---
TUBAL3	79861	broad.mit.edu	37	10	5435992	5435992	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr10:5435992T>C	ENST00000380419.3	-	4	866	c.829A>G	c.(829-831)Aca>Gca	p.T277A	TUBAL3_ENST00000479328.1_Missense_Mutation_p.T237A	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	277					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.T277A(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GCGAAGGCTGTCATGGGGAAA	0.517																																						uc001ihy.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(829-831)ACA>GCA		tubulin, alpha-like 3							175.0	172.0	173.0					10																	5435992		2203	4300	6503	SO:0001583	missense	79861				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:5435992T>C	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.829A>G	10.37:g.5435992T>C	ENSP00000369784:p.Thr277Ala					TUBAL3_uc001ihz.2_Missense_Mutation_p.T237A	p.T277A	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN			4	869	-			277					B4DKL2|Q4QQJ5|Q9H6Z0	Missense_Mutation	SNP	ENST00000380419.3	37	c.829A>G	CCDS7066.2	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.302454	0.00243	.	.	ENSG00000178462	ENST00000380419;ENST00000479328	D;D	0.82081	-1.57;-1.57	4.2	1.77	0.24775	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.53938	D	0.000060	T	0.50205	0.1602	N	0.01789	-0.72	0.32448	N	0.545826	B;B	0.18166	0.0;0.026	B;B	0.18561	0.003;0.022	T	0.51124	-0.8745	10	0.02654	T	1	.	3.6518	0.08206	0.1623:0.1821:0.0:0.6557	.	237;277	A6NHL2-2;A6NHL2	.;TBAL3_HUMAN	A	277;237	ENSP00000369784:T277A;ENSP00000418799:T237A	ENSP00000369784:T277A	T	-	1	0	TUBAL3	5425992	0.998000	0.40836	0.017000	0.16124	0.008000	0.06430	0.797000	0.26999	0.232000	0.21100	0.528000	0.53228	ACA		PASS	0.517	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803		84	107	84	107	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17130187	17130187	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr10:17130187A>T	ENST00000377833.4	-	15	1988	c.1923T>A	c.(1921-1923)gaT>gaA	p.D641E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	641	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.D641E(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTTGCAGTCATCATGGTGCT	0.418																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(1921-1923)GAT>GAA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						94.0	87.0	89.0					10																	17130187		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17130187A>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1923T>A	10.37:g.17130187A>T	ENSP00000367064:p.Asp641Glu						p.D641E	NM_001081	NP_001072	O60494	CUBN_HUMAN			15	1975	-			641			CUB 2.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.1923T>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	7.560	0.664522	0.14710	.	.	ENSG00000107611	ENST00000377833	T	0.16897	2.31	5.29	-2.07	0.07276	CUB (5);	0.635484	0.13882	N	0.356257	T	0.05777	0.0151	N	0.14661	0.345	0.48341	D	0.99963	B	0.11235	0.004	B	0.16289	0.015	T	0.44345	-0.9334	10	0.05436	T	0.98	.	2.559	0.04767	0.2793:0.3317:0.0658:0.3231	.	641	O60494	CUBN_HUMAN	E	641	ENSP00000367064:D641E	ENSP00000367064:D641E	D	-	3	2	CUBN	17170193	0.445000	0.25657	0.671000	0.29857	0.961000	0.63080	0.022000	0.13511	-0.520000	0.06435	0.533000	0.62120	GAT		PASS	0.418	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		19	52	19	52	---	---	---	---
NEBL	10529	broad.mit.edu	37	10	21112199	21112199	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr10:21112199T>C	ENST00000377122.4	-	19	2296	c.1900A>G	c.(1900-1902)Aca>Gca	p.T634A	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	634					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.T634A(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAAATGGCTGTTGCATGTTTA	0.274																																						uc001iqi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1900-1902)ACA>GCA		nebulette sarcomeric isoform							104.0	99.0	101.0					10																	21112199		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21112199T>C	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1900A>G	10.37:g.21112199T>C	ENSP00000366326:p.Thr634Ala					NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	p.T634A	NM_006393	NP_006384	O76041	NEBL_HUMAN			19	2297	-			634			Nebulin 17.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.1900A>G	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.536453	0.85812	.	.	ENSG00000078114	ENST00000377122	T	0.06528	3.29	5.42	5.42	0.78866	.	0.059345	0.64402	D	0.000004	T	0.18002	0.0432	M	0.75150	2.29	0.80722	D	1	P	0.51933	0.949	P	0.55615	0.78	T	0.05852	-1.0860	10	0.19147	T	0.46	.	14.5975	0.68417	0.0:0.0:0.0:1.0	.	634	O76041	NEBL_HUMAN	A	634	ENSP00000366326:T634A	ENSP00000366326:T634A	T	-	1	0	NEBL	21152205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.331000	0.43894	2.194000	0.70268	0.533000	0.62120	ACA		PASS	0.274	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		33	45	33	45	---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25878045	25878045	+	Silent	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr10:25878045C>A	ENST00000376351.3	+	8	2222	c.1863C>A	c.(1861-1863)ctC>ctA	p.L621L		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	621				ELIISAIFHTI -> SWIVNSMNSHF (in Ref. 3). {ECO:0000305}.	protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L621L(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACAATGAGCTCATCATCTCTG	0.398																																						uc001isj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(1861-1863)CTC>CTA		G protein-coupled receptor 158 precursor							103.0	97.0	99.0					10																	25878045		2203	4300	6503	SO:0001819	synonymous_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25878045C>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1863C>A	10.37:g.25878045C>A							p.L621L	NM_020752	NP_065803	Q5T848	GP158_HUMAN			8	1923	+			621	ELIISAIFHTI -> SWIVNSMNSHF (in Ref. 3).		Helical; Name=6; (Potential).		Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	c.1863C>A	CCDS31166.1																																																																																				PASS	0.398	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		35	55	35	55	---	---	---	---
LYZL1	84569	broad.mit.edu	37	10	29581497	29581497	+	Silent	SNP	G	G	C	rs371425145		TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr10:29581497G>C	ENST00000375500.3	+	3	384	c.327G>C	c.(325-327)acG>acC	p.T109T		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	63					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.T109T(1)		central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				CAGCCCAGACGGTCCTGGATG	0.552																																						uc001iul.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(325-327)ACG>ACC		lysozyme-like 1							133.0	104.0	114.0					10																	29581497		2203	4300	6503	SO:0001819	synonymous_variant	84569				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:29581497G>C		CCDS31174.1	10p12.1	2004-08-02			ENSG00000120563	ENSG00000120563	3.2.1.1		30502	protein-coding gene	gene with protein product						12477932	Standard	XM_005252627		Approved	MGC33408, LYC2	uc001iul.3	Q6UWQ5	OTTHUMG00000017880	ENST00000375500.3:c.327G>C	10.37:g.29581497G>C							p.T109T	NM_032517	NP_115906	Q6UWQ5	LYZL1_HUMAN			3	384	+		Breast(68;0.203)	63					Q5T921|Q8WW16	Silent	SNP	ENST00000375500.3	37	c.327G>C	CCDS31174.1																																																																																				PASS	0.552	LYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047381.1	NM_032517		10	50	10	50	---	---	---	---
PGBD3	267004	broad.mit.edu	37	10	50725112	50725112	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr10:50725112C>A	ENST00000374127.3	-	2	250	c.49G>T	c.(49-51)Gat>Tat	p.D17Y	ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.D485Y|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.D485Y|PGBD3_ENST00000508005.2_Missense_Mutation_p.D17Y|PGBD3_ENST00000603152.1_Missense_Mutation_p.D485Y	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	17								p.D17Y(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						ATGCTGTCATCTGTCTCTAAA	0.393																																						uc001jht.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|breast(1)|skin(1)	3						c.(49-51)GAT>TAT		hypothetical protein LOC267004							123.0	125.0	124.0					10																	50725112		2203	4300	6503	SO:0001583	missense	267004							g.chr10:50725112C>A	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.49G>T	10.37:g.50725112C>A	ENSP00000363242:p.Asp17Tyr					ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Missense_Mutation_p.D485Y|PGBD3_uc001jhu.2_Missense_Mutation_p.D485Y	p.D17Y	NM_170753	NP_736609	Q8N328	PGBD3_HUMAN			2	304	-			17					B3KQC4|Q5W0M0|Q6PIH0	Missense_Mutation	SNP	ENST00000374127.3	37	c.49G>T	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240339	0.58995	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.21543	2.0;2.0;2.97;2.97	0.468	0.468	0.16732	.	.	.	.	.	T	0.12689	0.0308	N	0.08118	0	0.23649	N	0.997206	D;D	0.54964	0.969;0.969	B;P	0.47162	0.441;0.54	T	0.18147	-1.0346	8	0.72032	D	0.01	-19.0494	.	.	.	.	485;17	E7EV46;Q8N328	.;PGBD3_HUMAN	Y	17;17;485;485	ENSP00000363242:D17Y;ENSP00000426963:D17Y;ENSP00000423550:D485Y;ENSP00000387966:D485Y	ENSP00000387966:D485Y	D	-	1	0	PGBD3;RP11-123B3.6	50395118	0.964000	0.33143	0.993000	0.49108	0.992000	0.81027	1.591000	0.36665	0.488000	0.27723	0.491000	0.48974	GAT		PASS	0.393	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			67	129	67	129	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61932103	61932103	+	Missense_Mutation	SNP	G	G	A	rs374740918		TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr10:61932103G>A	ENST00000280772.2	-	21	2632	c.2441C>T	c.(2440-2442)aCc>aTc	p.T814I	ANK3_ENST00000503366.1_Missense_Mutation_p.T797I|ANK3_ENST00000373827.2_Missense_Mutation_p.T808I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	814					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.T475I(1)|p.T814I(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TATCTTCAGGGTGTCCACTAC	0.488																																						uc001jky.2																			2	Substitution - Missense(2)		lung(2)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(2440-2442)ACC>ATC		ankyrin 3 isoform 1		G	ILE/THR,ILE/THR,ILE/THR	1,4405	2.1+/-5.4	0,1,2202	132.0	123.0	126.0		2423,2390,2441	5.8	1.0	10		126	0,8600		0,0,4300	no	missense,missense,missense	ANK3	NM_001204403.1,NM_001204404.1,NM_020987.3	89,89,89	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	808/1862,797/1869,814/4378	61932103	1,13005	2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61932103G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2441C>T	10.37:g.61932103G>A	ENSP00000280772:p.Thr814Ile					ANK3_uc001jkx.2_5'UTR|ANK3_uc010qih.1_Missense_Mutation_p.T797I|ANK3_uc001jkz.3_Missense_Mutation_p.T808I|ANK3_uc001jlb.1_Missense_Mutation_p.T343I|ANK3_uc001jlc.1_Missense_Mutation_p.T475I	p.T814I	NM_020987	NP_066267	Q12955	ANK3_HUMAN			21	2633	-			814			ANK 23.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.2441C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405461	0.83230	2.27E-4	0.0	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000536348	T;T;T	0.18960	2.44;2.18;2.18	5.78	5.78	0.91487	Ankyrin repeat-containing domain (3);	0.000000	0.40302	N	0.001140	T	0.28764	0.0713	N	0.04373	-0.215	0.80722	D	1	B;D;D;D;P	0.89917	0.082;0.997;1.0;1.0;0.79	B;D;D;D;B	0.97110	0.046;0.987;0.996;1.0;0.343	T	0.48636	-0.9018	10	0.87932	D	0	.	20.0175	0.97485	0.0:0.0:1.0:0.0	.	797;475;358;808;814	E9PE32;E7EMJ1;Q59G01;Q5CZH9;Q12955	.;.;.;.;ANK3_HUMAN	I	814;808;797;776;49;475;470;358	ENSP00000280772:T814I;ENSP00000362933:T808I;ENSP00000425236:T797I	ENSP00000280772:T814I	T	-	2	0	ANK3	61602109	1.000000	0.71417	0.983000	0.44433	0.788000	0.44548	7.943000	0.87716	2.730000	0.93505	0.650000	0.86243	ACC		PASS	0.488	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		33	54	33	54	---	---	---	---
CDK1	983	broad.mit.edu	37	10	62553719	62553719	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr10:62553719A>G	ENST00000395284.3	+	8	1022	c.880A>G	c.(880-882)Att>Gtt	p.I294V	CDK1_ENST00000316629.4_Missense_Mutation_p.I237V|CDK1_ENST00000373809.2_Missense_Mutation_p.I237V|CDK1_ENST00000448257.2_Missense_Mutation_p.I294V	NM_001786.4	NP_001777.1	P06493	CDK1_HUMAN	cyclin-dependent kinase 1	294					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell aging (GO:0007569)|cell migration (GO:0016477)|cellular response to hydrogen peroxide (GO:0070301)|centrosome cycle (GO:0007098)|chromosome condensation (GO:0030261)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|pronuclear fusion (GO:0007344)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|Ras protein signal transduction (GO:0007265)|regulation of embryonic development (GO:0045995)|regulation of Schwann cell differentiation (GO:0014038)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to activity (GO:0014823)|response to amine (GO:0014075)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organic cyclic compound (GO:0014070)|response to toxic substance (GO:0009636)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|histone kinase activity (GO:0035173)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.I294V(1)		ovary(1)	1						GGACAATCAGATTAAGAAGAT	0.294																																						uc001jld.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(880-882)ATT>GTT		cell division cycle 2 isoform 1							73.0	76.0	75.0					10																	62553719		2202	4290	6492	SO:0001583	missense	983				activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity	g.chr10:62553719A>G	BC014563	CCDS7260.1, CCDS44408.1	10q21.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000170312	ENSG00000170312		"""Cyclin-dependent kinases"""	1722	protein-coding gene	gene with protein product		116940	"""cell division cycle 2, G1 to S and G2 to M"""	CDC2		3553962, 19884882	Standard	NM_001786		Approved	CDC28A	uc001jld.3	P06493	OTTHUMG00000018290	ENST00000395284.3:c.880A>G	10.37:g.62553719A>G	ENSP00000378699:p.Ile294Val					CDK1_uc001jle.2_RNA|CDK1_uc001jlf.2_Missense_Mutation_p.I294V|CDK1_uc001jlg.2_Missense_Mutation_p.I237V	p.I294V	NM_001786	NP_001777	P06493	CDK1_HUMAN			8	1014	+			294					A8K7C4|C9J497|O60764	Missense_Mutation	SNP	ENST00000395284.3	37	c.880A>G	CCDS44408.1	.	.	.	.	.	.	.	.	.	.	A	5.693	0.312367	0.10789	.	.	ENSG00000170312	ENST00000395284;ENST00000316629;ENST00000448257;ENST00000373809	T;T;T;T	0.69685	-0.42;0.93;-0.39;0.93	6.02	6.02	0.97574	Protein kinase-like domain (1);	0.299915	0.37178	N	0.002204	T	0.52996	0.1769	N	0.04508	-0.205	0.18873	N	0.999985	B;B;P	0.35745	0.0;0.0;0.518	B;B;P	0.47827	0.001;0.0;0.558	T	0.48479	-0.9032	10	0.06891	T	0.86	-7.0754	15.1157	0.72401	1.0:0.0:0.0:0.0	.	237;300;294	P06493-2;Q5H9N4;P06493	.;.;CDK1_HUMAN	V	294;237;294;237	ENSP00000378699:I294V;ENSP00000325970:I237V;ENSP00000397973:I294V;ENSP00000362915:I237V	ENSP00000325970:I237V	I	+	1	0	CDK1	62223725	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	2.770000	0.47662	2.311000	0.77944	0.533000	0.62120	ATT		PASS	0.294	CDK1-007	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048211.2	NM_001786		10	121	10	121	---	---	---	---
ANKRD1	27063	broad.mit.edu	37	10	92675931	92675931	+	Silent	SNP	A	A	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr10:92675931A>G	ENST00000371697.3	-	6	896	c.648T>C	c.(646-648)gaT>gaC	p.D216D		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	216					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)	p.D216D(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				GGAATACCTTATCTCGGGCGC	0.517																																						uc001khe.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(646-648)GAT>GAC		cardiac ankyrin repeat protein							81.0	78.0	79.0					10																	92675931		2203	4300	6503	SO:0001819	synonymous_variant	27063				cellular lipid metabolic process|defense response|signal transduction		DNA binding	g.chr10:92675931A>G	X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"""Ankyrin repeat domain containing"""	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.648T>C	10.37:g.92675931A>G							p.D216D	NM_014391	NP_055206	Q15327	ANKR1_HUMAN			6	896	-		Colorectal(252;0.0475)	216					Q96LE7	Silent	SNP	ENST00000371697.3	37	c.648T>C	CCDS7412.1																																																																																				PASS	0.517	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1	NM_014391		34	59	34	59	---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	95987096	95987096	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr10:95987096G>A	ENST00000371380.3	+	4	2078	c.1843G>A	c.(1843-1845)Gca>Aca	p.A615T	PLCE1_ENST00000371385.3_Missense_Mutation_p.A307T|RP11-391J2.3_ENST00000447227.1_RNA|PLCE1_ENST00000260766.3_Missense_Mutation_p.A615T|PLCE1_ENST00000371375.1_Missense_Mutation_p.A307T			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	615	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.A615T(1)|p.A307T(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GATCCTCACGGCAGGCTCCAT	0.473																																						uc001kjk.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1843-1845)GCA>ACA		phospholipase C, epsilon 1 isoform 1							77.0	84.0	82.0					10																	95987096		2041	4204	6245	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95987096G>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1843G>A	10.37:g.95987096G>A	ENSP00000360431:p.Ala615Thr					PLCE1_uc010qnx.1_Missense_Mutation_p.A615T|PLCE1_uc001kjm.2_Missense_Mutation_p.A307T	p.A615T	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			5	2477	+		Colorectal(252;0.0458)	615			Ras-GEF.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.1843G>A	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	35	5.465791	0.96257	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.86	5.86	0.93980	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.061996	0.64402	D	0.000006	T	0.54078	0.1836	L	0.54323	1.7	0.53005	D	0.999969	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.994	T	0.45308	-0.9270	10	0.48119	T	0.1	.	20.1837	0.98210	0.0:0.0:1.0:0.0	.	615;307;615	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	T	615;615;307;307	ENSP00000260766:A615T;ENSP00000360431:A615T;ENSP00000360438:A307T;ENSP00000360426:A307T	ENSP00000260766:A615T	A	+	1	0	PLCE1	95977086	1.000000	0.71417	0.335000	0.25508	0.976000	0.68499	9.434000	0.97515	2.774000	0.95407	0.650000	0.86243	GCA		PASS	0.473	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		4	70	4	70	---	---	---	---
PNLIPRP3	119548	broad.mit.edu	37	10	118220511	118220511	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr10:118220511C>A	ENST00000369230.3	+	6	745	c.599C>A	c.(598-600)aCt>aAt	p.T200N		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	200					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.T200N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TTCCACAACACTCCAAAGGAA	0.443																																						uc001lcl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(598-600)ACT>AAT		pancreatic lipase-related protein 3 precursor							120.0	109.0	113.0					10																	118220511		2203	4300	6503	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118220511C>A	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.599C>A	10.37:g.118220511C>A	ENSP00000358232:p.Thr200Asn						p.T200N	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	6	700	+			200						Missense_Mutation	SNP	ENST00000369230.3	37	c.599C>A	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420881	0.83559	.	.	ENSG00000203837	ENST00000369230	D	0.90844	-2.74	4.93	4.0	0.46444	Lipase, N-terminal (1);	0.219642	0.29884	N	0.010952	D	0.90463	0.7013	L	0.41961	1.31	0.09310	N	1	P	0.51791	0.948	P	0.55222	0.771	D	0.83794	0.0232	10	0.87932	D	0	.	11.1539	0.48476	0.0:0.8539:0.0:0.1461	.	200	Q17RR3	LIPR3_HUMAN	N	200	ENSP00000358232:T200N	ENSP00000358232:T200N	T	+	2	0	PNLIPRP3	118210501	0.169000	0.23002	0.012000	0.15200	0.882000	0.50991	2.177000	0.42509	2.561000	0.86390	0.591000	0.81541	ACT		PASS	0.443	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		35	104	35	104	---	---	---	---
CUZD1	50624	broad.mit.edu	37	10	124596492	124596492	+	Silent	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr10:124596492C>T	ENST00000368904.1	-	7	1621	c.672G>A	c.(670-672)ctG>ctA	p.L224L	CUZD1_ENST00000545804.1_Silent_p.L224L|CUZD1_ENST00000392790.1_Silent_p.L224L					CUB and zona pellucida-like domains 1									p.L224L(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CTTGTCCAATCAGGCCAGAGT	0.468																																						uc001lgq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(670-672)CTG>CTA		CUB and zona pellucida-like domains 1 precursor							95.0	86.0	89.0					10																	124596492		2203	4300	6503	SO:0001819	synonymous_variant	50624				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane		g.chr10:124596492C>T	AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.672G>A	10.37:g.124596492C>T						CUZD1_uc001lgp.2_5'UTR|CUZD1_uc009yad.2_5'UTR|CUZD1_uc009yaf.2_Intron|CUZD1_uc001lgr.2_5'UTR|CUZD1_uc010qty.1_Intron|CUZD1_uc009yae.2_Intron|CUZD1_uc001lgs.2_Silent_p.L224L|CUZD1_uc010qtz.1_Silent_p.L224L	p.L224L	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)	5	1004	-		all_neural(114;0.169)|Glioma(114;0.222)	224			Extracellular (Potential).|CUB 2.			Silent	SNP	ENST00000368904.1	37	c.672G>A	CCDS7631.1																																																																																				PASS	0.468	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034		4	71	4	71	---	---	---	---
CYP2E1	1571	broad.mit.edu	37	10	135345141	135345141	+	Silent	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr10:135345141G>T	ENST00000463117.2	+	5	662	c.390G>T	c.(388-390)ctG>ctT	p.L130L	AL161645.2_ENST00000599428.1_5'Flank|CYP2E1_ENST00000480558.1_3'UTR|SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Silent_p.L130L			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	130					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.L130L(1)		NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GGTTTTCCCTGACCACCCTCC	0.532									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													uc001lnj.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)	3						c.(388-390)CTG>CTT		cytochrome P450, family 2, subfamily E,	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						104.0	103.0	103.0					10																	135345141		2203	4300	6503	SO:0001819	synonymous_variant	1571	Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	g.chr10:135345141G>T	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.390G>T	10.37:g.135345141G>T						CYP2E1_uc001lnk.1_5'UTR|CYP2E1_uc009ybl.1_Intron|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_5'UTR	p.L130L	NM_000773	NP_000764	P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	3	423	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	130					Q5VZD5|Q6NWT9|Q9UK47	Silent	SNP	ENST00000463117.2	37	c.390G>T	CCDS7686.1																																																																																				PASS	0.532	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		63	85	63	85	---	---	---	---
CARS	833	broad.mit.edu	37	11	3078590	3078590	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr11:3078590T>C	ENST00000397111.5	-	1	253	c.8A>G	c.(7-9)gAt>gGt	p.D3G	CARS_ENST00000380525.4_Missense_Mutation_p.D3G|CARS_ENST00000401769.3_5'UTR|CARS_ENST00000397114.3_5'UTR|CARS_ENST00000278224.9_Missense_Mutation_p.D3G			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	3					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.D3G(2)	CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CCCGGAGGAATCTGCCATGGC	0.726			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	uc001lxh.2				Dom	yes		11	11p15.5	833	T	cysteinyl-tRNA synthetase			L	ALK		ALCL	CARS/ALK(5)	2	Substitution - Missense(2)		lung(2)	soft_tissue(5)|ovary(2)	7						c.(7-9)GAT>GGT		cysteinyl-tRNA synthetase isoform b	L-Cysteine(DB00151)						9.0	13.0	12.0					11																	3078590		2169	4262	6431	SO:0001583	missense	833				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding	g.chr11:3078590T>C	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.8A>G	11.37:g.3078590T>C	ENSP00000380300:p.Asp3Gly					CARS_uc001lxe.2_5'UTR|CARS_uc001lxf.2_Missense_Mutation_p.D3G|CARS_uc001lxg.2_Missense_Mutation_p.D3G|CARS_uc010qxo.1_Missense_Mutation_p.D3G|CARS_uc010qxp.1_5'UTR	p.D3G	NM_001751	NP_001742	P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	1	82	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	3					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	c.8A>G	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	T	1.091	-0.663972	0.03428	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224	T;T;T	0.44083	2.92;1.01;0.93	3.93	0.923	0.19413	.	1.275310	0.06562	N	0.746889	T	0.18593	0.0446	N	0.08118	0	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.43750	-0.9372	10	0.02654	T	1	0.3868	5.7659	0.18227	0.0:0.5058:0.3043:0.1899	.	3;3;3;3	B4DPV7;P49589;P49589-2;Q5HYE4	.;SYCC_HUMAN;.;.	G	3	ENSP00000369897:D3G;ENSP00000380300:D3G;ENSP00000278224:D3G	ENSP00000278224:D3G	D	-	2	0	CARS	3035166	0.769000	0.28531	0.983000	0.44433	0.528000	0.34623	0.269000	0.18589	0.419000	0.25927	-0.232000	0.12228	GAT		PASS	0.726	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		4	3	4	3	---	---	---	---
MRGPRE	116534	broad.mit.edu	37	11	3249739	3249739	+	Silent	SNP	G	G	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr11:3249739G>C	ENST00000389832.5	-	2	597	c.291C>G	c.(289-291)acC>acG	p.T97T	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.T96T			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T96T(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGCCAGGCTGGTCTGCACGA	0.662																																						uc001lxq.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(286-288)ACC>ACG		MAS-related GPR, member E							43.0	53.0	50.0					11																	3249739		2178	4274	6452	SO:0001819	synonymous_variant	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249739G>C	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"""GPCR / Class A : Orphans"""	30694	protein-coding gene	gene with protein product		607232	"""G protein-coupled receptor 167"""	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.291C>G	11.37:g.3249739G>C							p.T96T	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	598	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	96			Extracellular (Potential).		Q2M1V7	Silent	SNP	ENST00000389832.5	37	c.288C>G																																																																																					PASS	0.662	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		6	31	6	31	---	---	---	---
OR51M1	390059	broad.mit.edu	37	11	5411481	5411481	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr11:5411481C>G	ENST00000328611.3	+	1	875	c.853C>G	c.(853-855)Cat>Gat	p.H285D	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	285					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H285D(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTGCTATTCATCTTCTTAT	0.493																																						uc010qzc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(853-855)CAT>GAT		olfactory receptor, family 51, subfamily M,							62.0	55.0	57.0					11																	5411481		2019	4194	6213	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5411481C>G	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.853C>G	11.37:g.5411481C>G	ENSP00000333196:p.His285Asp					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.H285D	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	853	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	285					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.853C>G	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556681	0.27827	.	.	ENSG00000184698	ENST00000328611	T	0.00018	9.07	5.24	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.231517	0.21936	U	0.066958	T	0.00440	0.0014	M	0.87617	2.895	0.09310	N	1	D	0.76494	0.999	D	0.87578	0.998	T	0.29058	-1.0024	10	0.87932	D	0	.	12.4521	0.55682	0.0:0.9192:0.0:0.0808	.	274	Q9H341	O51M1_HUMAN	D	285	ENSP00000333196:H285D	ENSP00000333196:H285D	H	+	1	0	OR51M1	5368057	0.000000	0.05858	0.236000	0.24074	0.242000	0.25591	0.779000	0.26746	1.453000	0.47775	0.655000	0.94253	CAT		PASS	0.493	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		18	21	18	21	---	---	---	---
OR52B6	340980	broad.mit.edu	37	11	5602719	5602719	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr11:5602719C>A	ENST00000345043.2	+	1	613	c.613C>A	c.(613-615)Cat>Aat	p.H205N	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H205N(1)		endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCATTGCCCATCTGTCCTG	0.443																																						uc010qzi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(613-615)CAT>AAT		olfactory receptor, family 52, subfamily B,							204.0	205.0	205.0					11																	5602719		2151	4268	6419	SO:0001583	missense	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602719C>A	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.613C>A	11.37:g.5602719C>A	ENSP00000341581:p.His205Asn					HBG2_uc001mak.1_Intron	p.H205N	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	613	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	205			Extracellular (Potential).		Q6IFI7	Missense_Mutation	SNP	ENST00000345043.2	37	c.613C>A	CCDS41611.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616569	0.28801	.	.	ENSG00000187747	ENST00000345043	T	0.00069	8.77	5.15	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.461204	0.15853	U	0.241402	T	0.00109	0.0003	N	0.12182	0.205	0.09310	N	1	B	0.19935	0.04	B	0.29077	0.098	T	0.42766	-0.9432	10	0.87932	D	0	.	5.1792	0.15150	0.1494:0.6227:0.145:0.0829	.	205	Q8NGF0	O52B6_HUMAN	N	205	ENSP00000341581:H205N	ENSP00000341581:H205N	H	+	1	0	OR52B6	5559295	0.000000	0.05858	0.979000	0.43373	0.893000	0.52053	-0.090000	0.11163	2.673000	0.90976	0.650000	0.86243	CAT		PASS	0.443	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		76	191	76	191	---	---	---	---
OR52N1	79473	broad.mit.edu	37	11	5809819	5809819	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr11:5809819G>T	ENST00000317078.1	-	1	227	c.228C>A	c.(226-228)tgC>tgA	p.C76*	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C76*(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GGGTGCTGGTGCACATGAGCA	0.463																																						uc010qzo.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(226-228)TGC>TGA		olfactory receptor, family 52, subfamily N,							152.0	135.0	141.0					11																	5809819		2201	4296	6497	SO:0001587	stop_gained	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809819G>T	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.228C>A	11.37:g.5809819G>T	ENSP00000322823:p.Cys76*					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.C76*	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	228	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	76			Helical; Name=2; (Potential).		Q6IFF6	Nonsense_Mutation	SNP	ENST00000317078.1	37	c.228C>A	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133339	0.77662	.	.	ENSG00000181001	ENST00000317078	.	.	.	4.59	1.69	0.24217	.	0.000000	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	9.2103	0.37316	0.2626:0.0:0.7374:0.0	.	.	.	.	X	76	.	ENSP00000322823:C76X	C	-	3	2	OR52N1	5766395	0.000000	0.05858	1.000000	0.80357	0.975000	0.68041	-0.373000	0.07494	0.653000	0.30826	0.609000	0.83330	TGC		PASS	0.463	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		34	72	34	72	---	---	---	---
OLFML1	283298	broad.mit.edu	37	11	7509427	7509427	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr11:7509427A>G	ENST00000329293.3	+	2	593	c.199A>G	c.(199-201)Ata>Gta	p.I67V	OLFML1_ENST00000528758.1_Intron|OLFML1_ENST00000530135.1_Missense_Mutation_p.I67V|CTD-2516F10.2_ENST00000530201.1_RNA	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	67						extracellular region (GO:0005576)		p.I67V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CTCAAAAAATATATCTGTCAT	0.418																																						uc001mfi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(199-201)ATA>GTA		olfactomedin-like 1 precursor							80.0	75.0	77.0					11																	7509427		2201	4296	6497	SO:0001583	missense	283298					extracellular region		g.chr11:7509427A>G	AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.199A>G	11.37:g.7509427A>G	ENSP00000332511:p.Ile67Val					uc001mff.1_Intron|OLFML1_uc001mfh.1_Missense_Mutation_p.I67V|OLFML1_uc010raz.1_Intron|OLFML1_uc010rba.1_Missense_Mutation_p.I67V	p.I67V	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN		Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	551	+			67					B4DP03|Q569G4	Missense_Mutation	SNP	ENST00000329293.3	37	c.199A>G	CCDS7779.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.368|8.368	0.834722|0.834722	0.16820|0.16820	.|.	.|.	ENSG00000183801|ENSG00000183801	ENST00000534244|ENST00000530135;ENST00000329293	.|D;D	.|0.87103	.|-2.21;-2.21	5.77|5.77	0.491|0.491	0.16867|0.16867	.|.	0.367854|0.367854	0.29126|0.29126	N|N	0.013071|0.013071	T|T	0.69495|0.69495	0.3117|0.3117	L|L	0.31207|0.31207	0.915|0.915	0.80722|0.80722	D|D	1|1	.|B;B	.|0.09022	.|0.001;0.002	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.56492|0.56492	-0.7970|-0.7970	7|10	0.87932|0.02654	D|T	0|1	.|.	1.4915|1.4915	0.02458|0.02458	0.3648:0.3564:0.1067:0.1722|0.3648:0.3564:0.1067:0.1722	.|.	.|67;67	.|Q6UWY5;Q5HYE3	.|OLFL1_HUMAN;.	M|V	65|67	.|ENSP00000433455:I67V;ENSP00000332511:I67V	ENSP00000431558:I65M|ENSP00000332511:I67V	I|I	+|+	3|1	3|0	OLFML1|OLFML1	7466003|7466003	0.941000|0.941000	0.31946|0.31946	0.992000|0.992000	0.48379|0.48379	0.627000|0.627000	0.37826|0.37826	0.251000|0.251000	0.18257|0.18257	0.081000|0.081000	0.16988|0.16988	-0.301000|-0.301000	0.09380|0.09380	ATA|ATA		PASS	0.418	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384656.1	NM_198474		32	37	32	37	---	---	---	---
OR5P2	120065	broad.mit.edu	37	11	7817568	7817568	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr11:7817568G>A	ENST00000329434.2	-	1	952	c.922C>T	c.(922-924)Cat>Tat	p.H308Y	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H308Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAAGCATCATGAGAAAGTATT	0.388																																						uc001mfp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(922-924)CAT>TAT		olfactory receptor, family 5, subfamily P,							90.0	123.0	112.0					11																	7817568		2107	4292	6399	SO:0001583	missense	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7817568G>A	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.922C>T	11.37:g.7817568G>A	ENSP00000331823:p.His308Tyr						p.H308Y	NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	922	-			308			Cytoplasmic (Potential).		Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	37	c.922C>T	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.674702	0.00758	.	.	ENSG00000183303	ENST00000329434	T	0.00054	8.8	4.78	-0.629	0.11533	.	6.006990	0.00357	N	0.000030	T	0.00109	0.0003	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32640	-0.9899	10	0.23891	T	0.37	47.6238	1.1085	0.01699	0.1413:0.1793:0.3122:0.3672	.	308	Q8WZ92	OR5P2_HUMAN	Y	308	ENSP00000331823:H308Y	ENSP00000331823:H308Y	H	-	1	0	OR5P2	7774144	0.007000	0.16637	0.001000	0.08648	0.005000	0.04900	-0.583000	0.05807	0.094000	0.17404	-0.509000	0.04479	CAT		PASS	0.388	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		92	111	92	111	---	---	---	---
SOX6	55553	broad.mit.edu	37	11	15994598	15994598	+	Silent	SNP	A	A	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr11:15994598A>C	ENST00000352083.6	-	16	2321	c.2244T>G	c.(2242-2244)acT>acG	p.T748T	SOX6_ENST00000528429.1_Silent_p.T748T|SOX6_ENST00000316399.6_Silent_p.T728T|SOX6_ENST00000396356.3_Silent_p.T728T|SOX6_ENST00000527619.1_Silent_p.T724T|SOX6_ENST00000528252.1_Silent_p.T721T			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	748					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.T724T(1)|p.T728T(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TAGTTGCCATAGTGATAGCAC	0.502																																						uc001mme.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(2281-2283)ACT>ACG		SRY (sex determining region Y)-box 6 isoform 4							106.0	105.0	106.0					11																	15994598		2200	4294	6494	SO:0001819	synonymous_variant	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:15994598A>C	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.2244T>G	11.37:g.15994598A>C						SOX6_uc001mmd.2_Silent_p.T724T|SOX6_uc001mmf.2_Silent_p.T721T|SOX6_uc001mmg.2_Silent_p.T728T	p.T761T	NM_001145819	NP_001139291	P35712	SOX6_HUMAN			16	2316	-			748					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	ENST00000352083.6	37	c.2283T>G																																																																																					PASS	0.502	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		24	56	24	56	---	---	---	---
OR5L1	219437	broad.mit.edu	37	11	55579262	55579262	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr11:55579262G>A	ENST00000333973.2	+	1	409	c.320G>A	c.(319-321)tGt>tAt	p.C107Y		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C107Y(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTTTGCACTTGTGTGGTCACT	0.463																																						uc001nhw.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(319-321)TGT>TAT		olfactory receptor, family 5, subfamily L,							235.0	204.0	214.0					11																	55579262		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579262G>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.320G>A	11.37:g.55579262G>A	ENSP00000335529:p.Cys107Tyr						p.C107Y	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	320	+		all_epithelial(135;0.208)	107			Helical; Name=3; (Potential).		B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.320G>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	6.441	0.449551	0.12223	.	.	ENSG00000186117	ENST00000333973	T	0.01854	4.6	4.18	-8.36	0.00980	GPCR, rhodopsin-like superfamily (1);	0.510492	0.18275	N	0.146185	T	0.02119	0.0066	L	0.55017	1.72	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.25813	-1.0121	10	0.59425	D	0.04	0.2648	7.2806	0.26310	0.1324:0.0759:0.1263:0.6655	.	107	Q8NGL2	OR5L1_HUMAN	Y	107	ENSP00000335529:C107Y	ENSP00000335529:C107Y	C	+	2	0	OR5L1	55335838	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.174000	0.16743	-3.202000	0.00217	-0.597000	0.04108	TGT		PASS	0.463	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		67	138	67	138	---	---	---	---
OR5B2	390190	broad.mit.edu	37	11	58189942	58189942	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr11:58189942A>T	ENST00000302581.2	-	1	844	c.793T>A	c.(793-795)Tcc>Acc	p.S265T		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S265A(1)|p.S265T(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTGTCCATGGAGTGGCTGGAG	0.498																																						uc010rkg.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(793-795)TCC>ACC		olfactory receptor, family 5, subfamily B,							102.0	93.0	96.0					11																	58189942		2201	4295	6496	SO:0001583	missense	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58189942A>T	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.793T>A	11.37:g.58189942A>T	ENSP00000303076:p.Ser265Thr						p.S265T	NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN			1	793	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	265			Extracellular (Potential).		B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	ENST00000302581.2	37	c.793T>A	CCDS31550.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.269255	0.40095	.	.	ENSG00000172365	ENST00000302581	T	0.00265	8.39	3.73	3.73	0.42828	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35262	U	0.003339	T	0.00271	0.0008	M	0.72118	2.19	0.29438	N	0.85938	P	0.38440	0.631	B	0.40940	0.344	T	0.14172	-1.0482	10	0.59425	D	0.04	-17.9357	11.6478	0.51271	1.0:0.0:0.0:0.0	.	265	Q96R09	OR5B2_HUMAN	T	265	ENSP00000303076:S265T	ENSP00000303076:S265T	S	-	1	0	OR5B2	57946518	0.019000	0.18553	0.981000	0.43875	0.183000	0.23260	0.600000	0.24104	1.703000	0.51240	0.477000	0.44152	TCC		PASS	0.498	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		37	59	37	59	---	---	---	---
NAALADL1	10004	broad.mit.edu	37	11	64825641	64825641	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr11:64825641G>T	ENST00000358658.3	-	2	294	c.267C>A	c.(265-267)gaC>gaA	p.D89E	NAALADL1_ENST00000339885.2_Missense_Mutation_p.D89E|NAALADL1_ENST00000356632.3_Missense_Mutation_p.D89E|NAALADL1_ENST00000355721.3_Missense_Mutation_p.D89E|NAALADL1_ENST00000340252.4_Missense_Mutation_p.D89E|NAALADL1_ENST00000355369.2_Missense_Mutation_p.D89E	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.D89E(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CTGACTCTGGGTCCTTCCAGC	0.662																																						uc001ocn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(265-267)GAC>GAA		N-acetylated alpha-linked acidic							28.0	25.0	26.0					11																	64825641		2200	4297	6497	SO:0001583	missense	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64825641G>T	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.267C>A	11.37:g.64825641G>T	ENSP00000351484:p.Asp89Glu					NAALADL1_uc010rnw.1_5'UTR	p.D89E	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN			2	283	-			89			Extracellular (Potential).		C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	c.267C>A	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.876151	0.33162	.	.	ENSG00000168060	ENST00000358658;ENST00000355369;ENST00000339885;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632	T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24	4.4	3.48	0.39840	.	0.153033	0.56097	D	0.000032	T	0.17109	0.0411	N	0.03115	-0.41	0.42632	D	0.993388	P	0.46395	0.877	B	0.40741	0.339	T	0.09930	-1.0652	10	0.72032	D	0.01	-40.6709	9.7016	0.40189	0.1026:0.0:0.8974:0.0	.	89	Q9UQQ1	NALDL_HUMAN	E	89	ENSP00000351484:D89E;ENSP00000347530:D89E;ENSP00000340111:D89E;ENSP00000344244:D89E;ENSP00000347955:D89E;ENSP00000349045:D89E	ENSP00000340111:D89E	D	-	3	2	NAALADL1	64582217	1.000000	0.71417	0.540000	0.28089	0.375000	0.29983	2.537000	0.45702	1.078000	0.41014	0.561000	0.74099	GAC		PASS	0.662	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		20	21	20	21	---	---	---	---
LTBP3	4054	broad.mit.edu	37	11	65325130	65325130	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr11:65325130C>A	ENST00000301873.5	-	1	569	c.301G>T	c.(301-303)Gac>Tac	p.D101Y	LTBP3_ENST00000536982.1_Missense_Mutation_p.D12Y|LTBP3_ENST00000322147.4_Missense_Mutation_p.D101Y	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	101	Gly-rich.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)	p.D101Y(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GTGAGCGTGTCTGTGCTGTGG	0.682																																						uc001oej.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|lung(1)	3						c.(301-303)GAC>TAC		latent transforming growth factor beta binding							64.0	58.0	60.0					11																	65325130		2201	4297	6498	SO:0001583	missense	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65325130C>A	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.301G>T	11.37:g.65325130C>A	ENSP00000301873:p.Asp101Tyr					LTBP3_uc010roi.1_5'UTR|LTBP3_uc001oei.2_Missense_Mutation_p.D101Y|LTBP3_uc010roj.1_Missense_Mutation_p.D87Y|LTBP3_uc010rok.1_Missense_Mutation_p.D12Y	p.D101Y	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN			1	570	-			101			Gly-rich.		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	c.301G>T	CCDS44647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.934490|3.934490	0.73442|0.73442	.|.	.|.	ENSG00000168056|ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000536982;ENST00000530866|ENST00000526927	D;D;D;D|.	0.84944|.	-1.85;-1.92;-1.81;-1.82|.	4.25|4.25	4.25|4.25	0.50352|0.50352	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.52549|0.52549	0.1741|0.1741	L|L	0.39898|0.39898	1.24|1.24	0.32464|0.32464	N|N	0.543707|0.543707	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999|.	D;D;D;D|.	0.87578|.	0.996;0.998;0.996;0.91|.	T|T	0.60880|0.60880	-0.7175|-0.7175	10|5	0.87932|.	D|.	0|.	.|.	14.1502|14.1502	0.65378|0.65378	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	12;12;101;101|.	E9PKW1;F5GWC4;Q9NS15;Q9NS15-2|.	.;.;LTBP3_HUMAN;.|.	Y|I	101;101;12;12|36	ENSP00000326647:D101Y;ENSP00000301873:D101Y;ENSP00000441912:D12Y;ENSP00000435276:D12Y|.	ENSP00000301873:D101Y|.	D|R	-|-	1|2	0|0	LTBP3|LTBP3	65081706|65081706	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.137000|7.137000	0.77295|0.77295	1.908000|1.908000	0.55244|0.55244	0.561000|0.561000	0.74099|0.74099	GAC|AGA		PASS	0.682	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		25	40	25	40	---	---	---	---
KRTAP5-7	440050	broad.mit.edu	37	11	71238460	71238460	+	Silent	SNP	C	C	A	rs577096538		TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr11:71238460C>A	ENST00000398536.4	+	1	148	c.114C>A	c.(112-114)ccC>ccA	p.P38P		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	38	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.P38P(3)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GCTGTGTGCCCGTCTGCTGCT	0.687																																						uc001oqq.1																			3	Substitution - coding silent(3)		lung(2)|endometrium(1)		0						c.(112-114)CCC>CCA		keratin associated protein 5-7							71.0	93.0	85.0					11																	71238460		2200	4291	6491	SO:0001819	synonymous_variant	440050					keratin filament		g.chr11:71238460C>A	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.114C>A	11.37:g.71238460C>A							p.P38P	NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN			1	148	+			38			1.|7 X 4 AA repeats of C-C-X-P.		B2RNM3|Q701N5	Silent	SNP	ENST00000398536.4	37	c.114C>A	CCDS41682.1																																																																																				PASS	0.687	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			55	87	55	87	---	---	---	---
C2CD3	26005	broad.mit.edu	37	11	73811639	73811639	+	Missense_Mutation	SNP	C	C	T	rs143196767	byFrequency	TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr11:73811639C>T	ENST00000334126.7	-	15	2889	c.2663G>A	c.(2662-2664)cGg>cAg	p.R888Q	C2CD3_ENST00000313663.7_Missense_Mutation_p.R888Q			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	888					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.R888Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TCCTGGGCTCCGCACCTTATT	0.438													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		18297	0.0		0.0	False		,,,				2504	0.0					uc001ouu.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(2)|skin(1)	7						c.(2662-2664)CGG>CAG		C2 calcium-dependent domain containing 3		C	GLN/ARG	0,4400		0,0,2200	109.0	101.0	104.0		2663	5.9	1.0	11	dbSNP_134	104	4,8582	3.7+/-12.6	0,4,4289	yes	missense	C2CD3	NM_015531.4	43	0,4,6489	TT,TC,CC		0.0466,0.0,0.0308	possibly-damaging	888/1964	73811639	4,12982	2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73811639C>T	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.2663G>A	11.37:g.73811639C>T	ENSP00000334379:p.Arg888Gln						p.R888Q	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			15	2890	-	Breast(11;4.16e-06)		888					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.2663G>A		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.63	3.864420	0.71949	0.0	4.66E-4	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	D;D	0.95656	-3.77;-3.77	5.86	5.86	0.93980	.	0.186204	0.45126	D	0.000388	D	0.91253	0.7243	L	0.40543	1.245	0.34518	D	0.707851	D	0.61697	0.99	B	0.43331	0.416	D	0.90138	0.4211	10	0.13470	T	0.59	-13.4287	9.6754	0.40037	0.0:0.7828:0.1429:0.0743	.	888	Q4AC94-1	.	Q	888	ENSP00000334379:R888Q;ENSP00000323339:R888Q	ENSP00000323339:R888Q	R	-	2	0	C2CD3	73489287	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.601000	0.36773	2.771000	0.95319	0.650000	0.86243	CGG		PASS	0.438	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		7	111	7	111	---	---	---	---
C2CD3	26005	broad.mit.edu	37	11	73825470	73825470	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr11:73825470G>C	ENST00000334126.7	-	10	1915	c.1689C>G	c.(1687-1689)agC>agG	p.S563R	C2CD3_ENST00000313663.7_Missense_Mutation_p.S563R			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	563					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.S563R(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GACCAGCATAGCTTTTTTTGC	0.433																																						uc001ouu.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(2)|skin(1)	7						c.(1687-1689)AGC>AGG		C2 calcium-dependent domain containing 3							114.0	100.0	104.0					11																	73825470		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73825470G>C	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1689C>G	11.37:g.73825470G>C	ENSP00000334379:p.Ser563Arg					C2CD3_uc001ouv.2_Missense_Mutation_p.S563R	p.S563R	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			10	1916	-	Breast(11;4.16e-06)		563					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.1689C>G		.	.	.	.	.	.	.	.	.	.	G	10.83	1.460977	0.26248	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.12465	2.68;2.7	6.06	-0.794	0.10918	C2 calcium-dependent membrane targeting (1);	0.714738	0.15502	N	0.258967	T	0.12008	0.0292	L	0.43152	1.355	0.09310	N	1	B;P	0.43633	0.411;0.813	B;B	0.42555	0.148;0.391	T	0.12656	-1.0539	10	0.59425	D	0.04	0.6021	7.4784	0.27390	0.4695:0.1086:0.4219:0.0	.	563;563	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	R	563	ENSP00000334379:S563R;ENSP00000323339:S563R	ENSP00000323339:S563R	S	-	3	2	C2CD3	73503118	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	0.446000	0.21694	-0.408000	0.07565	-0.806000	0.03193	AGC		PASS	0.433	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		30	44	30	44	---	---	---	---
KDM4D	55693	broad.mit.edu	37	11	94731717	94731717	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr11:94731717G>A	ENST00000335080.5	+	3	2013	c.1181G>A	c.(1180-1182)gGg>gAg	p.G394E	KDM4D_ENST00000536741.1_Missense_Mutation_p.G394E	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	394					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.G394E(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCCCGCAGTGGGACACGGTGC	0.632																																						uc001pfe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1180-1182)GGG>GAG		jumonji domain containing 2D							58.0	49.0	52.0					11																	94731717		2201	4298	6499	SO:0001583	missense	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94731717G>A	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1181G>A	11.37:g.94731717G>A	ENSP00000334181:p.Gly394Glu						p.G394E	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN			3	2013	+			394					B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	c.1181G>A	CCDS8302.1	.	.	.	.	.	.	.	.	.	.	G	2.855	-0.237431	0.05944	.	.	ENSG00000186280	ENST00000335080	T	0.26067	1.76	3.51	-0.0898	0.13667	.	4.230940	0.02660	N	0.107385	T	0.14056	0.0340	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.12192	-1.0557	10	0.02654	T	1	-1.1025	2.5068	0.04647	0.3335:0.0:0.4462:0.2203	.	394	Q6B0I6	KDM4D_HUMAN	E	394	ENSP00000334181:G394E	ENSP00000334181:G394E	G	+	2	0	KDM4D	94371365	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.289000	0.18957	-0.005000	0.14395	0.462000	0.41574	GGG		PASS	0.632	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		10	41	10	41	---	---	---	---
GRIA4	2893	broad.mit.edu	37	11	105732909	105732909	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr11:105732909A>C	ENST00000530497.1	+	4	647	c.647A>C	c.(646-648)gAg>gCg	p.E216A	GRIA4_ENST00000428631.2_Missense_Mutation_p.E216A|GRIA4_ENST00000282499.5_Missense_Mutation_p.E216A|GRIA4_ENST00000393125.2_Missense_Mutation_p.E216A|GRIA4_ENST00000393127.2_Missense_Mutation_p.E216A|GRIA4_ENST00000525187.1_Missense_Mutation_p.E216A			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	216					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.E216A(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		TGTGAGATAGAGAGACTTCAA	0.333																																						uc001pix.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(646-648)GAG>GCG		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						56.0	58.0	57.0					11																	105732909		2202	4299	6501	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105732909A>C	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.647A>C	11.37:g.105732909A>C	ENSP00000435775:p.Glu216Ala					GRIA4_uc001piu.1_Missense_Mutation_p.E216A|GRIA4_uc001piw.2_Missense_Mutation_p.E216A|GRIA4_uc001piv.2_Missense_Mutation_p.E216A|GRIA4_uc009yxk.1_Missense_Mutation_p.E216A	p.E216A	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	5	1093	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	216			Extracellular (Potential).		Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.647A>C	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	A	18.86	3.713119	0.68730	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	5.49	5.49	0.81192	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000003	D	0.86100	0.5852	L	0.54323	1.7	0.80722	D	1	B;B;B;P	0.45240	0.33;0.14;0.169;0.854	P;B;B;P	0.51945	0.473;0.183;0.279;0.685	D	0.87479	0.2419	10	0.72032	D	0.01	.	15.5825	0.76455	1.0:0.0:0.0:0.0	.	216;216;246;216	P48058;G3V164;Q59GL7;Q86XE8	GRIA4_HUMAN;.;.;.	A	216	ENSP00000376833:E216A;ENSP00000282499:E216A;ENSP00000376835:E216A;ENSP00000415551:E216A;ENSP00000435775:E216A;ENSP00000432180:E216A	ENSP00000282499:E216A	E	+	2	0	GRIA4	105238119	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.893000	0.92498	2.084000	0.62774	0.455000	0.32223	GAG		PASS	0.333	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			26	38	26	38	---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117329603	117329603	+	Missense_Mutation	SNP	G	G	C	rs150002652		TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr11:117329603G>C	ENST00000321322.6	-	19	3616	c.3615C>G	c.(3613-3615)atC>atG	p.I1205M	DSCAML1_ENST00000527706.1_Missense_Mutation_p.I935M	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1145	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.I1205M(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCGTGGTGGTGATGTTCTGCA	0.657																																						uc001prh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(3613-3615)ATC>ATG		Down syndrome cell adhesion molecule like 1							103.0	94.0	97.0					11																	117329603		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117329603G>C		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3615C>G	11.37:g.117329603G>C	ENSP00000315465:p.Ile1205Met						p.I1205M	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	19	3617	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1145			Fibronectin type-III 3.|Extracellular (Potential).		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.3615C>G	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814156	0.50527	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.58940	0.3;0.3	4.68	4.68	0.58851	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62877	0.2464	M	0.75615	2.305	0.52501	D	0.999954	P	0.36837	0.571	B	0.42386	0.386	T	0.67288	-0.5708	9	0.56958	D	0.05	.	12.845	0.57825	0.0:0.0:0.8371:0.1629	.	1145	Q8TD84	DSCL1_HUMAN	M	935;1205;912	ENSP00000434335:I935M;ENSP00000315465:I1205M	ENSP00000315465:I1205M	I	-	3	3	DSCAML1	116834813	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.331000	0.65905	2.443000	0.82685	0.655000	0.94253	ATC		PASS	0.657	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		48	124	48	124	---	---	---	---
FOXM1	2305	broad.mit.edu	37	12	2968732	2968732	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr12:2968732G>A	ENST00000359843.3	-	9	1432	c.1364C>T	c.(1363-1365)cCa>cTa	p.P455L	ITFG2_ENST00000545509.1_3'UTR|Y_RNA_ENST00000410561.1_RNA|FOXM1_ENST00000342628.2_Missense_Mutation_p.P493L|FOXM1_ENST00000361953.3_Missense_Mutation_p.P440L|AC005841.1_ENST00000382678.3_5'Flank	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	455					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P493L(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			AGTCTGAACTGGAAGCAAAGG	0.532																																						uc001qlf.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1363-1365)CCA>CTA		forkhead box M1 isoform 2							58.0	59.0	58.0					12																	2968732		2203	4300	6503	SO:0001583	missense	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2968732G>A	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1364C>T	12.37:g.2968732G>A	ENSP00000352901:p.Pro455Leu					uc001qld.2_RNA|FOXM1_uc001qle.2_Missense_Mutation_p.P493L|FOXM1_uc001qlg.2_Missense_Mutation_p.P440L|FOXM1_uc009zea.2_Missense_Mutation_p.P440L|FOXM1_uc009zeb.2_Missense_Mutation_p.P439L	p.P455L	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		9	1629	-			455					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	ENST00000359843.3	37	c.1364C>T	CCDS8515.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440521	0.63067	.	.	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	D;D;D	0.94650	-3.48;-3.32;-3.34	5.11	4.17	0.49024	.	0.251741	0.39475	N	0.001357	D	0.95701	0.8602	M	0.65975	2.015	0.49687	D	0.999812	D;D;D;D;P	0.59767	0.975;0.986;0.985;0.986;0.915	P;P;P;P;P	0.59171	0.717;0.717;0.853;0.717;0.653	D	0.95406	0.8494	10	0.56958	D	0.05	.	13.7947	0.63164	0.0:0.1527:0.8473:0.0	.	439;455;440;455;493	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.;.;.;FOXM1_HUMAN;.	L	493;440;455	ENSP00000342307:P493L;ENSP00000354492:P440L;ENSP00000352901:P455L	ENSP00000342307:P493L	P	-	2	0	FOXM1	2838993	0.834000	0.29399	0.913000	0.36048	0.681000	0.39784	2.351000	0.44071	2.550000	0.86006	0.462000	0.41574	CCA		PASS	0.532	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		16	142	16	142	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6182863	6182863	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr12:6182863G>A	ENST00000261405.5	-	8	1173	c.919C>T	c.(919-921)Cct>Tct	p.P307S		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	307	TIL 1.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.P307S(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGGCGCAAGGGGACACACAC	0.557																																						uc001qnn.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(919-921)CCT>TCT		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						124.0	101.0	109.0					12																	6182863		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6182863G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.919C>T	12.37:g.6182863G>A	ENSP00000261405:p.Pro307Ser					VWF_uc010set.1_Missense_Mutation_p.P307S	p.P307S	NM_000552	NP_000543	P04275	VWF_HUMAN			8	1169	-			307			TIL 1.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.919C>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304563	0.60305	.	.	ENSG00000110799	ENST00000261405	D	0.90133	-2.62	5.07	5.07	0.68467	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.000000	0.41097	D	0.000949	D	0.90762	0.7100	N	0.17082	0.46	0.80722	D	1	P;D	0.89917	0.623;1.0	B;D	0.87578	0.401;0.998	D	0.89663	0.3878	10	0.26408	T	0.33	.	17.0171	0.86422	0.0:0.0:1.0:0.0	.	307;307	B4DNX0;P04275	.;VWF_HUMAN	S	307	ENSP00000261405:P307S	ENSP00000261405:P307S	P	-	1	0	VWF	6053124	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	4.058000	0.57463	2.352000	0.79861	0.491000	0.48974	CCT		PASS	0.557	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		47	78	47	78	---	---	---	---
CD163	9332	broad.mit.edu	37	12	7635988	7635988	+	Silent	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr12:7635988C>T	ENST00000359156.4	-	12	3265	c.3063G>A	c.(3061-3063)aaG>aaA	p.K1021K	CD163_ENST00000396620.3_Silent_p.K1054K|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Silent_p.K1009K|CD163_ENST00000432237.2_Silent_p.K1021K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1021	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.K1021K(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CAGCGTCTTCCTTGTGCCCAC	0.527																																						uc001qsz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(3061-3063)AAG>AAA		CD163 antigen isoform a							100.0	89.0	93.0					12																	7635988		2203	4300	6503	SO:0001819	synonymous_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7635988C>T	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3063G>A	12.37:g.7635988C>T						CD163_uc001qta.3_Silent_p.K1021K|CD163_uc009zfw.2_Silent_p.K1054K	p.K1021K	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			12	3191	-			1021			SRCR 9.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	c.3063G>A	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	7.157	0.584978	0.13749	.	.	ENSG00000177575	ENST00000537626	.	.	.	5.3	1.41	0.22369	.	.	.	.	.	T	0.54631	0.1870	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45041	-0.9288	4	.	.	.	.	7.1622	0.25671	0.0:0.557:0.0:0.443	.	.	.	.	K	34	.	.	R	-	2	0	CD163	7527255	0.000000	0.05858	0.999000	0.59377	0.714000	0.41099	-0.427000	0.06999	0.330000	0.23485	0.555000	0.69702	AGG		PASS	0.527	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		23	30	23	30	---	---	---	---
RIMKLB	57494	broad.mit.edu	37	12	8906535	8906535	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr12:8906535C>A	ENST00000538135.1	+	5	1368	c.543C>A	c.(541-543)agC>agA	p.S181R	RIMKLB_ENST00000357529.3_Missense_Mutation_p.S181R|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000535829.1_Missense_Mutation_p.S181R			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	181	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)	p.S181R(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTGATCTAAGCCATCTTATTC	0.433																																						uc001quu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(541-543)AGC>AGA		ribosomal modification protein rimK-like family							125.0	109.0	114.0					12																	8906535		1898	4127	6025	SO:0001583	missense	57494				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr12:8906535C>A	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.543C>A	12.37:g.8906535C>A	ENSP00000440943:p.Ser181Arg					RIMKLB_uc009zgf.1_RNA|RIMKLB_uc001qux.2_Missense_Mutation_p.S181R|RIMKLB_uc010sgl.1_Missense_Mutation_p.S181R|RIMKLB_uc001quw.2_Missense_Mutation_p.S181R	p.S181R	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN			5	794	+			181			ATP-grasp.|ATP (By similarity).		B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	37	c.543C>A	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524850	0.64747	.	.	ENSG00000166532	ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	4.83	3.94	0.45596	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);ATP-grasp fold, subdomain 1 (1);	0.057358	0.64402	U	0.000001	T	0.30634	0.0771	N	0.05199	-0.095	0.47994	D	0.999568	B;B	0.18310	0.027;0.014	B;B	0.23716	0.029;0.048	T	0.11251	-1.0595	9	0.56958	D	0.05	.	8.7076	0.34365	0.0:0.8223:0.0:0.1777	.	181;181	Q9ULI2-2;Q9ULI2	.;RIMKB_HUMAN	R	181	.	ENSP00000350136:S181R	S	+	3	2	RIMKLB	8797802	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.706000	0.37878	1.157000	0.42530	0.591000	0.81541	AGC		PASS	0.433	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		4	118	4	118	---	---	---	---
SLCO1C1	53919	broad.mit.edu	37	12	20876025	20876025	+	Splice_Site	SNP	T	T	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr12:20876025T>C	ENST00000266509.2	+	9	1391	c.1023T>C	c.(1021-1023)gaT>gaC	p.D341D	SLCO1C1_ENST00000540354.1_Splice_Site_p.D292D|SLCO1C1_ENST00000381552.1_Splice_Site_p.D341D|SLCO1C1_ENST00000545102.1_Splice_Site_p.D223D|SLCO1C1_ENST00000545604.1_Splice_Site_p.D341D	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	341					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.D341D(2)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	GTTTTACAGATTTTCTTCCAT	0.413																																						uc001rej.3																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|pancreas(1)|skin(1)	7						c.(1021-1023)GAT>GAC		solute carrier organic anion transporter family,							121.0	114.0	117.0					12																	20876025		2203	4300	6503	SO:0001630	splice_region_variant	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20876025T>C	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1022-1T>C	12.37:g.20876025T>C						SLCO1C1_uc010sii.1_Silent_p.D341D|SLCO1C1_uc010sij.1_Silent_p.D292D|SLCO1C1_uc009zip.2_Silent_p.D175D|SLCO1C1_uc001rei.2_Silent_p.D341D|SLCO1C1_uc010sik.1_Silent_p.D223D	p.D341D	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			10	1378	+	Esophageal squamous(101;0.149)		341			Cytoplasmic (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Silent	SNP	ENST00000266509.2	37	c.1023T>C	CCDS8683.1																																																																																				PASS	0.413	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435	Silent	45	85	45	85	---	---	---	---
SLCO1A2	6579	broad.mit.edu	37	12	21457502	21457502	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr12:21457502T>C	ENST00000307378.6	-	7	1168	c.448A>G	c.(448-450)Aca>Gca	p.T150A	SLCO1A2_ENST00000537524.1_Missense_Mutation_p.T18A|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.T150A|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.T148A|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.T18A	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	150					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.T150A(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	ACTTCCTTTGTACACTCTGCA	0.348																																						uc001rer.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(448-450)ACA>GCA		organic anion transporting polypeptide A							84.0	78.0	80.0					12																	21457502		2203	4300	6503	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21457502T>C		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.448A>G	12.37:g.21457502T>C	ENSP00000305974:p.Thr150Ala					SLCO1A2_uc001res.2_Missense_Mutation_p.T150A|SLCO1A2_uc010siq.1_Missense_Mutation_p.T18A|SLCO1A2_uc010sio.1_Missense_Mutation_p.T18A|SLCO1A2_uc010sip.1_Missense_Mutation_p.T18A|SLCO1A2_uc001ret.2_Missense_Mutation_p.T148A|SLCO1A2_uc001reu.2_Missense_Mutation_p.T130A	p.T150A	NM_021094	NP_066580	P46721	SO1A2_HUMAN			5	699	-			150			Extracellular (Potential).		Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.448A>G	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	T	6.516	0.463434	0.12402	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670;ENST00000413682	T;T;T;T;T;T	0.47869	1.11;1.11;1.11;1.11;1.11;0.83	4.75	1.41	0.22369	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.025370	0.02015	N	0.047343	T	0.33381	0.0861	N	0.19112	0.55	0.22389	N	0.999144	B;B;B	0.20671	0.016;0.047;0.001	B;B;B	0.21151	0.021;0.033;0.007	T	0.18493	-1.0335	10	0.08381	T	0.77	.	9.8237	0.40899	0.0:0.7049:0.0:0.2951	.	130;148;150	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	A	150;150;18;18;148;18	ENSP00000305974:T150A;ENSP00000393973:T150A;ENSP00000394854:T18A;ENSP00000439401:T18A;ENSP00000375088:T148A;ENSP00000403638:T18A	ENSP00000305974:T150A	T	-	1	0	SLCO1A2	21348769	1.000000	0.71417	0.999000	0.59377	0.749000	0.42624	1.702000	0.37836	0.494000	0.27859	0.482000	0.46254	ACA		PASS	0.348	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		55	93	55	93	---	---	---	---
SLC2A13	114134	broad.mit.edu	37	12	40422284	40422284	+	Silent	SNP	C	C	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr12:40422284C>G	ENST00000280871.4	-	3	794	c.744G>C	c.(742-744)ccG>ccC	p.P248P	SLC2A13_ENST00000380858.1_Silent_p.P248P	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	248					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.P229P(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GTATAACCGCCGGAACTGCTG	0.413										HNSCC(50;0.14)																												uc010skm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(742-744)CCG>CCC		solute carrier family 2 (facilitated glucose							78.0	78.0	78.0					12																	40422284		2203	4300	6503	SO:0001819	synonymous_variant	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40422284C>G	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.744G>C	12.37:g.40422284C>G		HNSCC(50;0.14)				SLC2A13_uc001rmf.2_Silent_p.P248P	p.P248P	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN			3	795	-		Lung NSC(34;0.105)|all_lung(34;0.123)	248			Helical; Name=6; (Potential).		Q17S07	Silent	SNP	ENST00000280871.4	37	c.744G>C	CCDS8736.2																																																																																				PASS	0.413	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			6	117	6	117	---	---	---	---
KRT76	51350	broad.mit.edu	37	12	53170493	53170493	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr12:53170493C>A	ENST00000332411.2	-	1	636	c.583G>T	c.(583-585)Gcc>Tcc	p.A195S		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	195	Coil 1A.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.A195S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATGAAGGAGGCAAACTTGTTG	0.572																																						uc001sax.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(583-585)GCC>TCC		keratin 76							129.0	123.0	125.0					12																	53170493		2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53170493C>A	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.583G>T	12.37:g.53170493C>A	ENSP00000330101:p.Ala195Ser						p.A195S	NM_015848	NP_056932	Q01546	K22O_HUMAN			1	637	-			195			Coil 1A.|Rod.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.583G>T	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550294	0.86127	.	.	ENSG00000185069	ENST00000332411	D	0.95103	-3.61	4.2	4.2	0.49525	Filament (1);	0.000000	0.46145	D	0.000308	D	0.97955	0.9327	M	0.93978	3.48	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	D	0.98853	1.0759	10	0.87932	D	0	.	17.8452	0.88728	0.0:1.0:0.0:0.0	.	195	Q01546	K22O_HUMAN	S	195	ENSP00000330101:A195S	ENSP00000330101:A195S	A	-	1	0	KRT76	51456760	1.000000	0.71417	0.879000	0.34478	0.974000	0.67602	5.936000	0.70153	2.635000	0.89317	0.462000	0.41574	GCC		PASS	0.572	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		34	81	34	81	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57573260	57573260	+	Silent	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr12:57573260G>A	ENST00000243077.3	+	29	5353	c.4887G>A	c.(4885-4887)gtG>gtA	p.V1629V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1629					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.V1629V(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGCAGCGTGTGTACTGGTCTG	0.587																																						uc001snd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(4885-4887)GTG>GTA		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						171.0	114.0	133.0					12																	57573260		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57573260G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4887G>A	12.37:g.57573260G>A							p.V1629V	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	29	5353	+			1629			LDL-receptor class B 13.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.4887G>A	CCDS8932.1																																																																																				PASS	0.587	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		22	43	22	43	---	---	---	---
MON2	23041	broad.mit.edu	37	12	62960174	62960174	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr12:62960174A>G	ENST00000393632.2	+	29	4658	c.4267A>G	c.(4267-4269)Aaa>Gaa	p.K1423E	MON2_ENST00000393630.3_Missense_Mutation_p.K1424E|MON2_ENST00000546600.1_Missense_Mutation_p.K1423E|MON2_ENST00000393629.2_Missense_Mutation_p.K1417E|MON2_ENST00000280379.6_Missense_Mutation_p.K1424E|MON2_ENST00000552738.1_Missense_Mutation_p.K1394E	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1423					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.K1423E(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTTATACCAAAAAACAGCGTG	0.363																																						uc001sre.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(4267-4269)AAA>GAA		MON2 homolog							134.0	143.0	140.0					12																	62960174		2203	4300	6503	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62960174A>G		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.4267A>G	12.37:g.62960174A>G	ENSP00000377252:p.Lys1423Glu					MON2_uc009zqj.2_Missense_Mutation_p.K1423E|MON2_uc010ssl.1_Missense_Mutation_p.K1351E|MON2_uc010ssm.1_Missense_Mutation_p.K1394E|MON2_uc010ssn.1_Missense_Mutation_p.K1417E|MON2_uc001srf.2_Missense_Mutation_p.K1186E|MON2_uc001srg.2_Missense_Mutation_p.K292E	p.K1423E	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	29	4658	+			1424					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.4267A>G	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	A	12.87	2.067574	0.36470	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.56444	0.46;0.46;0.49;0.49;0.46;0.46	5.05	5.05	0.67936	.	0.105886	0.64402	D	0.000005	T	0.47728	0.1461	L	0.55481	1.735	0.58432	D	0.999997	B;B;B;P;B	0.39782	0.164;0.253;0.123;0.688;0.199	B;B;B;B;B	0.37387	0.055;0.117;0.117;0.248;0.117	T	0.47446	-0.9117	9	.	.	.	-21.3612	13.6581	0.62349	1.0:0.0:0.0:0.0	.	1417;1394;1423;292;1423	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.;.	E	1423;1424;1424;1423;1394;1417	ENSP00000377252:K1423E;ENSP00000377250:K1424E;ENSP00000280379:K1424E;ENSP00000447407:K1423E;ENSP00000449215:K1394E;ENSP00000377249:K1417E	.	K	+	1	0	MON2	61246441	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.926000	0.92839	2.011000	0.59026	0.533000	0.62120	AAA		PASS	0.363	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		83	112	83	112	---	---	---	---
ANKS1B	56899	broad.mit.edu	37	12	100166842	100166842	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr12:100166842G>A	ENST00000547776.2	-	8	985	c.986C>T	c.(985-987)tCa>tTa	p.S329L	ANKS1B_ENST00000329257.7_Missense_Mutation_p.S329L|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	329						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.S329L(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CAAGAGTTTTGATAATTCTCC	0.313																																						uc001tge.1																			1	Substitution - Missense(1)		lung(1)		0						c.(985-987)TCA>TTA		cajalin 2 isoform a							99.0	93.0	95.0					12																	100166842		1797	4072	5869	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:100166842G>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.986C>T	12.37:g.100166842G>A	ENSP00000449629:p.Ser329Leu					ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.S295L	p.S329L	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	8	1403	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	329					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.986C>T	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839316	0.91117	.	.	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	T;T;T	0.50001	0.92;0.92;0.76	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	T	0.61652	0.2364	L	0.44542	1.39	0.80722	D	1	D;P	0.61080	0.989;0.792	D;P	0.75020	0.985;0.519	T	0.56153	-0.8026	9	.	.	.	-6.2758	17.9024	0.88909	0.0:0.0:1.0:0.0	.	295;329	F8VVQ4;Q7Z6G8	.;ANS1B_HUMAN	L	329;329;295	ENSP00000449629:S329L;ENSP00000331381:S329L;ENSP00000449894:S295L	.	S	-	2	0	ANKS1B	98690973	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.115000	0.77110	2.748000	0.94277	0.655000	0.94253	TCA		PASS	0.313	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		5	116	5	116	---	---	---	---
TCHP	84260	broad.mit.edu	37	12	110342594	110342594	+	Missense_Mutation	SNP	G	G	T	rs199860940	byFrequency	TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr12:110342594G>T	ENST00000312777.5	+	4	666	c.452G>T	c.(451-453)cGa>cTa	p.R151L	TCHP_ENST00000405876.4_Missense_Mutation_p.R151L	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding									p.R151L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						CCGAAACTTCGAGAGGTGAAA	0.353																																						uc001tpn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(451-453)CGA>CTA		trichoplein							106.0	103.0	104.0					12																	110342594		2203	4300	6503	SO:0001583	missense	84260				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding	g.chr12:110342594G>T	AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"""mitostatin"""	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.452G>T	12.37:g.110342594G>T	ENSP00000324404:p.Arg151Leu					TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Missense_Mutation_p.R151L	p.R151L	NM_001143852	NP_001137324	Q9BT92	TCHP_HUMAN			4	605	+			151			Glu-rich.|Interaction with keratin proteins.			Missense_Mutation	SNP	ENST00000312777.5	37	c.452G>T	CCDS9137.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983994	0.74474	.	.	ENSG00000139437	ENST00000405876;ENST00000536868;ENST00000312777;ENST00000536408	T;T;T	0.63255	2.0;2.0;-0.03	4.99	4.99	0.66335	.	0.156624	0.43747	D	0.000533	T	0.79094	0.4388	M	0.80847	2.515	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.79519	-0.1770	10	0.39692	T	0.17	-6.3017	15.8565	0.78983	0.0:0.0:1.0:0.0	.	151	Q9BT92	TCHP_HUMAN	L	151	ENSP00000384520:R151L;ENSP00000324404:R151L;ENSP00000441835:R151L	ENSP00000324404:R151L	R	+	2	0	TCHP	108826977	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	6.369000	0.73109	2.343000	0.79666	0.644000	0.83932	CGA		PASS	0.353	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403289.1	NM_032300		32	71	32	71	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112687950	112687950	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr12:112687950T>C	ENST00000430131.2	-	24	3827	c.2682A>G	c.(2680-2682)atA>atG	p.I894M	HECTD4_ENST00000377560.5_Missense_Mutation_p.I1144M|HECTD4_ENST00000550722.1_Missense_Mutation_p.I1170M			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	894					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.I894M(1)|p.I1144M(1)									CAACATACTTTATACTTGGTC	0.373																																						uc009zwc.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(2680-2682)ATA>ATG		chromosome 12 open reading frame 51							40.0	40.0	40.0					12																	112687950		2203	4300	6503	SO:0001583	missense	283450							g.chr12:112687950T>C	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.2682A>G	12.37:g.112687950T>C	ENSP00000404379:p.Ile894Met					C12orf51_uc010syk.1_Missense_Mutation_p.I716M|C12orf51_uc001tts.2_Missense_Mutation_p.I707M|C12orf51_uc001ttt.3_Missense_Mutation_p.I705M	p.I894M	NM_001109662	NP_001103132					18	2700	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.2682A>G		.	.	.	.	.	.	.	.	.	.	T	18.57	3.652496	0.67472	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.57436	0.4;0.41;0.41	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.57242	0.2040	N	0.24115	0.695	0.42123	D	0.991431	D;D;D	0.60575	0.988;0.98;0.988	D;D;D	0.69654	0.965;0.924;0.965	T	0.62723	-0.6794	10	0.87932	D	0	.	12.073	0.53628	0.0:0.0:0.1436:0.8563	.	894;894;884	Q9Y4D8-2;Q9Y4D8;Q9Y4D8-3	.;K0614_HUMAN;.	M	1144;894;1170	ENSP00000366783:I1144M;ENSP00000404379:I894M;ENSP00000449784:I1170M	ENSP00000366783:I1144M	I	-	3	3	C12orf51	111172333	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.973000	0.40550	2.131000	0.65755	0.454000	0.30748	ATA		PASS	0.373	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		23	20	23	20	---	---	---	---
KDM2B	84678	broad.mit.edu	37	12	121958790	121958790	+	Silent	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr12:121958790G>T	ENST00000377071.4	-	9	1117	c.1045C>A	c.(1045-1047)Cgg>Agg	p.R349R	KDM2B_ENST00000536437.1_Silent_p.R232R|KDM2B_ENST00000377069.4_Silent_p.R318R|KDM2B_ENST00000538046.2_Intron|KDM2B_ENST00000543852.1_Silent_p.R118R	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	349					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)	p.R349R(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTCCTTACCCGCGTCCTGTCC	0.597																																						uc001uat.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1045-1047)CGG>AGG		F-box and leucine-rich repeat protein 10 isoform							75.0	79.0	78.0					12																	121958790		2106	4215	6321	SO:0001819	synonymous_variant	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121958790G>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.1045C>A	12.37:g.121958790G>T						KDM2B_uc001uas.2_Silent_p.R318R|KDM2B_uc001uau.2_Silent_p.R232R|KDM2B_uc001uav.3_Intron	p.R349R	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN			9	1149	-			349					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	ENST00000377071.4	37	c.1045C>A	CCDS41850.1																																																																																				PASS	0.597	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		3	73	3	73	---	---	---	---
CCDC122	160857	broad.mit.edu	37	13	44433997	44433997	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr13:44433997C>A	ENST00000444614.3	-	5	624	c.366G>T	c.(364-366)atG>atT	p.M122I	CCDC122_ENST00000476570.2_5'UTR|CCDC122_ENST00000281508.3_Missense_Mutation_p.M122I	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	122								p.M122I(1)		endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		TATATTTTATCATGTGTTCCT	0.318																																						uc010acf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(364-366)ATG>ATT		coiled-coil domain containing 122							110.0	107.0	108.0					13																	44433997		2203	4296	6499	SO:0001583	missense	160857							g.chr13:44433997C>A	AK056408	CCDS9390.2	13q14.11	2008-10-30			ENSG00000151773	ENSG00000151773			26478	protein-coding gene	gene with protein product		613408					Standard	NM_144974		Approved	FLJ31846	uc010acf.3	Q5T0U0	OTTHUMG00000017413	ENST00000444614.3:c.366G>T	13.37:g.44433997C>A	ENSP00000407763:p.Met122Ile					CCDC122_uc010tfn.1_Missense_Mutation_p.M122I	p.M122I	NM_144974	NP_659411	Q5T0U0	CC122_HUMAN		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)	5	625	-		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)	122					B2RP70|B7ZMI9|Q96MV0	Missense_Mutation	SNP	ENST00000444614.3	37	c.366G>T	CCDS9390.2	.	.	.	.	.	.	.	.	.	.	C	9.487	1.099644	0.20552	.	.	ENSG00000151773	ENST00000444614;ENST00000281508	T;T	0.30981	1.51;5.02	5.86	3.06	0.35304	.	0.746328	0.13377	N	0.392454	T	0.24353	0.0590	L	0.42245	1.32	0.09310	N	1	B;B	0.17667	0.023;0.001	B;B	0.08055	0.003;0.001	T	0.11867	-1.0570	10	0.32370	T	0.25	-0.7182	8.6845	0.34229	0.3832:0.5446:0.0:0.0722	.	122;122	B7ZMJ0;Q5T0U0	.;CC122_HUMAN	I	122	ENSP00000407763:M122I;ENSP00000281508:M122I	ENSP00000281508:M122I	M	-	3	0	CCDC122	43331997	0.003000	0.15002	0.140000	0.22221	0.961000	0.63080	0.445000	0.21677	1.456000	0.47831	0.585000	0.79938	ATG		PASS	0.318	CCDC122-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276172.4	NM_144974		81	34	81	34	---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58208864	58208864	+	Silent	SNP	C	C	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr13:58208864C>G	ENST00000377918.3	+	1	2210	c.2184C>G	c.(2182-2184)gtC>gtG	p.V728V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	728					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V728V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCATCGCCGTCAAGTGCAAGC	0.587																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(2182-2184)GTC>GTG		protocadherin 17 precursor							81.0	77.0	78.0					13																	58208864		2203	4300	6503	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208864C>G	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2184C>G	13.37:g.58208864C>G						PCDH17_uc010aec.1_Silent_p.V728V	p.V728V	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	3076	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	728			Helical; (Potential).		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.2184C>G	CCDS31986.1																																																																																				PASS	0.587	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		42	25	42	25	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42357009	42357009	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr14:42357009C>T	ENST00000298119.4	+	3	2370	c.1181C>T	c.(1180-1182)tCt>tTt	p.S394F	LRFN5_ENST00000554171.1_Missense_Mutation_p.S394F|LRFN5_ENST00000554120.1_Missense_Mutation_p.S394F	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	394						integral component of membrane (GO:0016021)		p.S394F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GATCCTGGTTCTTCAGATATC	0.383										HNSCC(30;0.082)																												uc001wvm.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1180-1182)TCT>TTT		leucine rich repeat and fibronectin type III							83.0	85.0	84.0					14																	42357009		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42357009C>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1181C>T	14.37:g.42357009C>T	ENSP00000298119:p.Ser394Phe	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.S394F	p.S394F	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	2379	+			394			Extracellular (Potential).		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1181C>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327498	0.60743	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.54675	0.7;0.56;0.56	5.4	5.4	0.78164	.	0.000000	0.56097	D	0.000029	T	0.67757	0.2927	M	0.65975	2.015	0.80722	D	1	P;P	0.49783	0.917;0.928	P;P	0.58331	0.837;0.79	T	0.67063	-0.5765	10	0.46703	T	0.11	.	17.0338	0.86468	0.0:1.0:0.0:0.0	.	394;394	G3V364;Q96NI6	.;LRFN5_HUMAN	F	394	ENSP00000298119:S394F;ENSP00000451897:S394F;ENSP00000451067:S394F	ENSP00000298119:S394F	S	+	2	0	LRFN5	41426759	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.754000	0.85163	2.680000	0.91292	0.563000	0.77884	TCT		PASS	0.383	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		43	26	43	26	---	---	---	---
GALNT16	57452	broad.mit.edu	37	14	69787482	69787482	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr14:69787482C>G	ENST00000337827.4	+	2	559	c.232C>G	c.(232-234)Cag>Gag	p.Q78E	GALNT16_ENST00000448469.3_Missense_Mutation_p.Q78E|GALNT16_ENST00000553669.1_Missense_Mutation_p.Q78E	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	78					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.Q78E(1)									GTCGGCCAAGCAGCTGAAGGC	0.597																																						uc010aqu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(232-234)CAG>GAG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							93.0	89.0	90.0					14																	69787482		2203	4300	6503	SO:0001583	missense	57452					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr14:69787482C>G	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.232C>G	14.37:g.69787482C>G	ENSP00000336729:p.Gln78Glu					GALNTL1_uc001xla.1_Missense_Mutation_p.Q78E|GALNTL1_uc001xlb.1_Missense_Mutation_p.Q78E	p.Q78E	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN		all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)	2	325	+			78			Lumenal (Potential).		Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	ENST00000337827.4	37	c.232C>G	CCDS32107.1	.	.	.	.	.	.	.	.	.	.	C	4.822	0.152800	0.09185	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.52526	0.78;0.78;0.66	5.62	5.62	0.85841	.	0.426470	0.19816	N	0.105423	T	0.20618	0.0496	N	0.05306	-0.075	0.39106	D	0.961378	B;B	0.23937	0.029;0.094	B;B	0.19666	0.01;0.026	T	0.22452	-1.0216	10	0.02654	T	1	.	7.4315	0.27131	0.0:0.7142:0.1431:0.1427	.	78;78	Q8N428;Q58A55	GLTL1_HUMAN;.	E	78	ENSP00000336729:Q78E;ENSP00000402970:Q78E;ENSP00000451200:Q78E	ENSP00000336729:Q78E	Q	+	1	0	GALNTL1	68857235	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.500000	0.45381	2.660000	0.90430	0.650000	0.86243	CAG		PASS	0.597	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		50	28	50	28	---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71444635	71444635	+	Silent	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr14:71444635C>T	ENST00000304743.2	+	6	2027	c.1581C>T	c.(1579-1581)tcC>tcT	p.S527S	PCNX_ENST00000238570.5_Silent_p.S527S|PCNX_ENST00000439984.3_Silent_p.S527S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	527						integral component of membrane (GO:0016021)		p.S527S(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTGTGGATTCCAAAGTGCGTA	0.463																																						uc001xmo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1579-1581)TCC>TCT		pecanex-like 1							97.0	101.0	99.0					14																	71444635		2203	4300	6503	SO:0001819	synonymous_variant	22990					integral to membrane		g.chr14:71444635C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1581C>T	14.37:g.71444635C>T						PCNX_uc001xmn.3_Silent_p.S527S|PCNX_uc010are.1_Silent_p.S527S	p.S527S	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	6	2027	+			527					B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	37	c.1581C>T	CCDS9806.1																																																																																				PASS	0.463	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		9	142	9	142	---	---	---	---
ISM2	145501	broad.mit.edu	37	14	77948969	77948969	+	Silent	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr14:77948969C>T	ENST00000342219.4	-	4	725	c.669G>A	c.(667-669)tcG>tcA	p.S223S	ISM2_ENST00000493585.1_Intron|ISM2_ENST00000393684.3_Silent_p.S135S|ISM2_ENST00000412904.1_Silent_p.S142S|ISM2_ENST00000429906.1_Silent_p.S142S	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	223						extracellular region (GO:0005576)		p.S223S(1)		endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						ACAGGTCTATCGACACCTCGG	0.622																																						uc001xtz.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(667-669)TCG>TCA		isthmin 2 homolog isoform 1							67.0	76.0	73.0					14																	77948969		2203	4300	6503	SO:0001819	synonymous_variant	145501					extracellular region		g.chr14:77948969C>T	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.669G>A	14.37:g.77948969C>T						ISM2_uc001xua.2_Intron|ISM2_uc001xty.2_Silent_p.S135S|ISM2_uc010tvl.1_Silent_p.S142S	p.S223S	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN			4	743	-			223					A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Silent	SNP	ENST00000342219.4	37	c.669G>A	CCDS9864.1																																																																																				PASS	0.622	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		44	143	44	143	---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96779474	96779474	+	Missense_Mutation	SNP	C	C	A	rs149230704	byFrequency	TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr14:96779474C>A	ENST00000359933.4	-	25	4663	c.3770G>T	c.(3769-3771)cGa>cTa	p.R1257L	ATG2B_ENST00000261834.5_5'Flank	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1257					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.R1257L(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AAGAAGAGATCGGATTGGCAA	0.378																																						uc001yfi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(3769-3771)CGA>CTA		ATG2 autophagy related 2 homolog B							107.0	105.0	106.0					14																	96779474		2203	4300	6503	SO:0001583	missense	55102							g.chr14:96779474C>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3770G>T	14.37:g.96779474C>A	ENSP00000353010:p.Arg1257Leu						p.R1257L	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	25	4135	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1257					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.3770G>T	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	36	5.773769	0.96922	.	.	ENSG00000066739	ENST00000359933	T	0.12984	2.63	6.01	6.01	0.97437	.	0.107309	0.64402	D	0.000006	T	0.43233	0.1238	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.18429	-1.0337	10	0.72032	D	0.01	.	20.5182	0.99214	0.0:1.0:0.0:0.0	.	1257	Q96BY7	ATG2B_HUMAN	L	1257	ENSP00000353010:R1257L	ENSP00000353010:R1257L	R	-	2	0	ATG2B	95849227	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.246000	0.78247	2.860000	0.98153	0.655000	0.94253	CGA		PASS	0.378	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		4	112	4	112	---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31329971	31329971	+	Silent	SNP	G	G	T	rs376705938		TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr15:31329971G>T	ENST00000256552.6	-	20	2661	c.2514C>A	c.(2512-2514)atC>atA	p.I838I	TRPM1_ENST00000397795.2_Silent_p.I816I|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000542188.1_Silent_p.I855I|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.I816I(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCTTTGTTCCGATGGGAATAC	0.438																																						uc001zfm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(2446-2448)ATC>ATA		transient receptor potential cation channel,							184.0	165.0	171.0					15																	31329971		1922	4139	6061	SO:0001819	synonymous_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31329971G>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2514C>A	15.37:g.31329971G>T						TRPM1_uc010azy.2_Silent_p.I723I|TRPM1_uc001zfl.2_RNA	p.I816I	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	19	2576	-		all_lung(180;1.92e-11)	816			Extracellular (Potential).			Silent	SNP	ENST00000256552.6	37	c.2448C>A	CCDS58346.1																																																																																				PASS	0.438	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		44	69	44	69	---	---	---	---
AQR	9716	broad.mit.edu	37	15	35166938	35166938	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr15:35166938C>T	ENST00000156471.5	-	29	3590	c.3365G>A	c.(3364-3366)cGc>cAc	p.R1122H		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1122					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R1122H(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GCGAACAAAGCGAGTGAAGAG	0.433																																						uc001ziv.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(3364-3366)CGC>CAC		aquarius							136.0	129.0	131.0					15																	35166938		1907	4128	6035	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35166938C>T	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3365G>A	15.37:g.35166938C>T	ENSP00000156471:p.Arg1122His						p.R1122H	NM_014691	NP_055506	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	29	3546	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	1122					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.3365G>A	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	C	33	5.269151	0.95429	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.94897	-3.55	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.98340	0.9449	H	0.96111	3.77	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99308	1.0903	10	0.87932	D	0	-8.5269	19.4755	0.94985	0.0:1.0:0.0:0.0	.	1122	O60306	AQR_HUMAN	H	1122	ENSP00000156471:R1122H	ENSP00000156471:R1122H	R	-	2	0	AQR	32954230	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.755000	0.85180	2.605000	0.88082	0.650000	0.86243	CGC		PASS	0.433	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		5	146	5	146	---	---	---	---
HMGN2P46	283651	broad.mit.edu	37	15	45848168	45848168	+	lincRNA	SNP	G	G	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr15:45848168G>C	ENST00000557965.1	+	0	0				HMGN2P46_ENST00000409454.1_RNA																							TACTTCTGGTGACTGTACAGT	0.323																																						uc010beg.1										T					ETV1		prostate		0					0								Homo sapiens cDNA FLJ39426 fis, clone PROST2000505.							42.0	41.0	41.0					15																	45848168		2055	4012	6067			283651							g.chr15:45848168G>C																													15.37:g.45848168G>C						C15orf21_uc010beh.1_RNA|C15orf21_uc010bei.1_RNA|C15orf21_uc010bej.1_RNA|C15orf21_uc001zvm.1_RNA|C15orf21_uc001zvn.1_RNA							all cancers(107;3.03e-17)|GBM - Glioblastoma multiforme(94;7.36e-07)	6		+		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)							RNA	SNP	ENST00000557965.1	37	c.1163G>C																																																																																					PASS	0.323	RP11-96O20.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000416553.1			26	58	26	58	---	---	---	---
ATP8B4	79895	broad.mit.edu	37	15	50212548	50212548	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr15:50212548C>A	ENST00000284509.6	-	18	1959	c.1818G>T	c.(1816-1818)aaG>aaT	p.K606N	ATP8B4_ENST00000559829.1_Missense_Mutation_p.K606N	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	606						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.K606N(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTTTAAAGTACTTGTCATCCA	0.448																																						uc001zxu.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(1816-1818)AAG>AAT		ATPase class I type 8B member 4							120.0	108.0	112.0					15																	50212548		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50212548C>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1818G>T	15.37:g.50212548C>A	ENSP00000284509:p.Lys606Asn					ATP8B4_uc010ber.2_Missense_Mutation_p.K479N|ATP8B4_uc010ufd.1_Missense_Mutation_p.K416N|ATP8B4_uc010ufe.1_RNA	p.K606N	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	18	1960	-		all_lung(180;0.00183)	606			Cytoplasmic (Potential).		Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.1818G>T	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908278	0.33721	.	.	ENSG00000104043	ENST00000284509	T	0.68624	-0.34	5.64	1.17	0.20885	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.358048	0.29846	N	0.011043	T	0.48642	0.1511	L	0.31120	0.905	0.28753	N	0.901323	B	0.19935	0.04	B	0.29440	0.102	T	0.36065	-0.9763	10	0.39692	T	0.17	.	3.3981	0.07313	0.1799:0.3884:0.0:0.4317	.	606	Q8TF62	AT8B4_HUMAN	N	606	ENSP00000284509:K606N	ENSP00000284509:K606N	K	-	3	2	ATP8B4	47999840	0.960000	0.32886	1.000000	0.80357	0.906000	0.53458	-0.076000	0.11412	0.341000	0.23771	0.561000	0.74099	AAG		PASS	0.448	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		38	75	38	75	---	---	---	---
HDC	3067	broad.mit.edu	37	15	50549709	50549709	+	Silent	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr15:50549709G>A	ENST00000267845.3	-	4	756	c.354C>T	c.(352-354)aaC>aaT	p.N118N	HDC_ENST00000543581.1_Silent_p.N118N	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.N118N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		AGTCCATGACGTTCATCTCCA	0.597																																					GBM(95;1627 1936 6910 9570)	uc001zxz.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(352-354)AAC>AAT		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						125.0	107.0	113.0					15																	50549709		2196	4295	6491	SO:0001819	synonymous_variant	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50549709G>A		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.354C>T	15.37:g.50549709G>A						HDC_uc010uff.1_Silent_p.N118N|HDC_uc010bet.1_Intron|HDC_uc010beu.1_Silent_p.N118N	p.N118N	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	4	460	-		all_lung(180;0.0138)	118	N -> M (in Ref. 3; no nucleotide entry).					Silent	SNP	ENST00000267845.3	37	c.354C>T	CCDS10134.1																																																																																				PASS	0.597	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			45	81	45	81	---	---	---	---
MYO5A	4644	broad.mit.edu	37	15	52718104	52718104	+	Silent	SNP	T	T	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr15:52718104T>A	ENST00000399231.3	-	4	621	c.378A>T	c.(376-378)gcA>gcT	p.A126A	MYO5A_ENST00000399233.2_Silent_p.A126A|MYO5A_ENST00000356338.6_Silent_p.A126A|MYO5A_ENST00000553916.1_Silent_p.A126A|MYO5A_ENST00000358212.6_Silent_p.A126A	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	126	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.A126A(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GACCACTGTATGCATTAATAA	0.398																																						uc002aby.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(376-378)GCA>GCT		myosin VA isoform 1							108.0	98.0	101.0					15																	52718104		1855	4107	5962	SO:0001819	synonymous_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52718104T>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.378A>T	15.37:g.52718104T>A						MYO5A_uc002abx.3_Silent_p.A126A|MYO5A_uc010uge.1_5'UTR	p.A126A	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	4	622	-			126			Myosin head-like.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	c.378A>T	CCDS42037.1																																																																																				PASS	0.398	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		38	82	38	82	---	---	---	---
PPIB	5479	broad.mit.edu	37	15	64449012	64449012	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr15:64449012G>C	ENST00000300026.3	-	4	658	c.440C>G	c.(439-441)aCc>aGc	p.T147S	PPIB_ENST00000558492.1_5'UTR|SNX22_ENST00000325881.4_3'UTR	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	147	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				bone development (GO:0060348)|chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|positive regulation of multicellular organism growth (GO:0040018)|protein peptidyl-prolyl isomerization (GO:0000413)|protein stabilization (GO:0050821)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|unfolded protein binding (GO:0051082)	p.T147S(1)		kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	GGAGCCGTTGGTGTCTTTGCC	0.547																																					GBM(105;399 1481 32889 33051 36637)	uc002and.2																			1	Substitution - Missense(1)		lung(1)		0						c.(439-441)ACC>AGC		peptidylprolyl isomerase B precursor	L-Proline(DB00172)						206.0	170.0	182.0					15																	64449012		2203	4300	6503	SO:0001583	missense	5479				protein folding	endoplasmic reticulum lumen|melanosome	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding	g.chr15:64449012G>C		CCDS10191.1	15q21-q22	2014-09-17			ENSG00000166794	ENSG00000166794	5.2.1.8		9255	protein-coding gene	gene with protein product		123841				2000394, 20089953	Standard	NM_000942		Approved	CYPB, OI9	uc002and.3	P23284	OTTHUMG00000133018	ENST00000300026.3:c.440C>G	15.37:g.64449012G>C	ENSP00000300026:p.Thr147Ser					SNX22_uc002anc.1_3'UTR	p.T147S	NM_000942	NP_000933	P23284	PPIB_HUMAN			4	609	-			147			PPIase cyclophilin-type.		A8K534|Q6IBH5|Q9BVK5	Missense_Mutation	SNP	ENST00000300026.3	37	c.440C>G	CCDS10191.1	.	.	.	.	.	.	.	.	.	.	G	34	5.376303	0.95945	.	.	ENSG00000166794	ENST00000300026	T	0.18810	2.19	5.92	5.92	0.95590	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.42063	0.1186	L	0.45137	1.4	0.80722	D	1	D	0.67145	0.996	D	0.74023	0.982	T	0.08106	-1.0738	10	0.66056	D	0.02	.	19.9192	0.97079	0.0:0.0:1.0:0.0	.	147	P23284	PPIB_HUMAN	S	147	ENSP00000300026:T147S	ENSP00000300026:T147S	T	-	2	0	PPIB	62236065	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.338000	0.96553	2.811000	0.96726	0.555000	0.69702	ACC		PASS	0.547	PPIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256604.1			5	140	5	140	---	---	---	---
TLE3	7090	broad.mit.edu	37	15	70351006	70351006	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr15:70351006C>G	ENST00000558939.1	-	11	2291	c.914G>C	c.(913-915)gGt>gCt	p.G305A	TLE3_ENST00000560589.1_Missense_Mutation_p.G249A|TLE3_ENST00000558379.1_Missense_Mutation_p.G305A|TLE3_ENST00000557997.1_Missense_Mutation_p.G305A|TLE3_ENST00000440567.3_Missense_Mutation_p.G298A|TLE3_ENST00000557907.1_Missense_Mutation_p.G305A|TLE3_ENST00000451782.2_Missense_Mutation_p.G305A|TLE3_ENST00000317509.8_Missense_Mutation_p.G305A|TLE3_ENST00000559048.1_Missense_Mutation_p.G310A|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000558201.1_Missense_Mutation_p.G311A|TLE3_ENST00000559929.1_Missense_Mutation_p.G315A|TLE3_ENST00000442299.2_Missense_Mutation_p.G305A|TLE3_ENST00000560939.1_Missense_Mutation_p.G310A|TLE3_ENST00000539550.1_Missense_Mutation_p.G249A	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	305	Pro/Ser-rich.				Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.G305A(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACATACATGACCAAGGTCTTT	0.622																																						uc002asm.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(913-915)GGT>GCT		transducin-like enhancer protein 3 isoform a							29.0	31.0	31.0					15																	70351006		1962	4142	6104	SO:0001583	missense	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding	g.chr15:70351006C>G	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.914G>C	15.37:g.70351006C>G	ENSP00000452871:p.Gly305Ala					TLE3_uc002ask.2_Missense_Mutation_p.G249A|TLE3_uc002asl.2_Missense_Mutation_p.G310A|TLE3_uc010ukd.1_Missense_Mutation_p.G298A|TLE3_uc010bik.1_Intron|TLE3_uc010bil.1_Missense_Mutation_p.G305A|TLE3_uc002asn.2_Missense_Mutation_p.G305A|TLE3_uc002asp.2_Missense_Mutation_p.G305A|TLE3_uc002aso.2_Missense_Mutation_p.G305A	p.G305A	NM_005078	NP_005069	Q04726	TLE3_HUMAN			11	2033	-			305			Pro/Ser-rich.		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	c.914G>C	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	C	9.812	1.183473	0.21870	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	T;T;T;T;T	0.48201	1.02;1.08;1.14;1.08;0.82	5.44	5.44	0.79542	.	0.121454	0.64402	D	0.000015	T	0.21145	0.0509	N	0.01109	-1.01	0.40745	D	0.982869	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.06405	0.001;0.0;0.001;0.0;0.002;0.0;0.001;0.001	T	0.25187	-1.0139	10	0.09338	T	0.73	0.0441	19.4628	0.94924	0.0:1.0:0.0:0.0	.	298;305;305;305;305;305;310;249	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	A	305;305;305;298;249	ENSP00000390007:G305A;ENSP00000394717:G305A;ENSP00000319233:G305A;ENSP00000415057:G298A;ENSP00000442594:G249A	ENSP00000319233:G305A	G	-	2	0	TLE3	68138060	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.359000	0.34113	2.837000	0.97791	0.655000	0.94253	GGT		PASS	0.622	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		3	7	3	7	---	---	---	---
IQGAP1	8826	broad.mit.edu	37	15	90996157	90996157	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr15:90996157G>A	ENST00000268182.5	+	12	1437	c.1313G>A	c.(1312-1314)cGa>cAa	p.R438Q	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	438					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.R438Q(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ACCCTGCAGCGACAAAGTCCT	0.502																																						uc002bpl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8						c.(1312-1314)CGA>CAA		IQ motif containing GTPase activating protein 1							62.0	59.0	60.0					15																	90996157		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:90996157G>A	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.1313G>A	15.37:g.90996157G>A	ENSP00000268182:p.Arg438Gln						p.R438Q	NM_003870	NP_003861	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		12	1414	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		438					A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.1313G>A	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	4.035	0.004149	0.07866	.	.	ENSG00000140575	ENST00000268182	T	0.05199	3.48	4.96	2.57	0.30868	.	0.133722	0.51477	N	0.000092	T	0.02494	0.0076	N	0.03881	-0.34	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42732	-0.9434	10	0.02654	T	1	-11.518	12.0963	0.53757	0.9246:0.0:0.0754:0.0	.	438	P46940	IQGA1_HUMAN	Q	438	ENSP00000268182:R438Q	ENSP00000268182:R438Q	R	+	2	0	IQGAP1	88797161	1.000000	0.71417	0.893000	0.35052	0.350000	0.29205	4.817000	0.62650	0.368000	0.24481	-1.119000	0.02030	CGA		PASS	0.502	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		3	47	3	47	---	---	---	---
ZNF200	7752	broad.mit.edu	37	16	3274470	3274470	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr16:3274470G>A	ENST00000431561.3	-	5	1222	c.610C>T	c.(610-612)Cga>Tga	p.R204*	ZNF200_ENST00000396871.4_Nonsense_Mutation_p.R203*|ZNF200_ENST00000396868.3_Nonsense_Mutation_p.R203*|ZNF200_ENST00000396870.4_Nonsense_Mutation_p.R203*|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000414144.2_Nonsense_Mutation_p.R204*|ZNF200_ENST00000575948.1_Nonsense_Mutation_p.R203*	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	204					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R204*(1)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						GTATTTAGTCGTTCCTTTTCC	0.368																																						uc002cuj.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(610-612)CGA>TGA		zinc finger protein 200 isoform 1							120.0	117.0	118.0					16																	3274470		2197	4300	6497	SO:0001587	stop_gained	7752				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr16:3274470G>A	AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"""Zinc fingers, C2H2-type"""	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.610C>T	16.37:g.3274470G>A	ENSP00000395723:p.Arg204*					ZNF200_uc002cum.3_Nonsense_Mutation_p.R203*|ZNF200_uc010bti.2_Nonsense_Mutation_p.R203*|ZNF200_uc002cuk.2_Nonsense_Mutation_p.R204*|ZNF200_uc002cui.2_Nonsense_Mutation_p.R203*|ZNF200_uc002cul.3_Nonsense_Mutation_p.R203*	p.R204*	NM_003454	NP_003445	P98182	ZN200_HUMAN			5	1242	-			204					D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Nonsense_Mutation	SNP	ENST00000431561.3	37	c.610C>T	CCDS10497.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797900	0.90538	.	.	ENSG00000010539	ENST00000396870;ENST00000396868;ENST00000396871;ENST00000414144;ENST00000431561	.	.	.	5.17	1.68	0.24146	.	1.039550	0.07632	N	0.928701	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-7.5933	4.3929	0.11350	0.0:0.178:0.1708:0.6512	.	.	.	.	X	204;203;203;203;204	.	ENSP00000380077:R203X	R	-	1	2	ZNF200	3214471	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.101000	0.15251	0.101000	0.17610	-0.545000	0.04230	CGA		PASS	0.368	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000437545.1			72	107	72	107	---	---	---	---
SYT17	51760	broad.mit.edu	37	16	19236095	19236095	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr16:19236095A>G	ENST00000355377.2	+	7	1561	c.1163A>G	c.(1162-1164)tAc>tGc	p.Y388C	SYT17_ENST00000568433.1_Missense_Mutation_p.Y82C|SYT17_ENST00000568115.1_Missense_Mutation_p.Y327C|SYT17_ENST00000562711.2_Missense_Mutation_p.Y384C|SYT17_ENST00000562034.1_Missense_Mutation_p.Y327C	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	388	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)	p.Y388C(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GATCCTTTCTACAATGAATCC	0.433																																						uc002dfw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1162-1164)TAC>TGC		B/K protein							126.0	124.0	125.0					16																	19236095		2197	4300	6497	SO:0001583	missense	51760					membrane|synaptic vesicle	transporter activity	g.chr16:19236095A>G		CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.1163A>G	16.37:g.19236095A>G	ENSP00000347538:p.Tyr388Cys					SYT17_uc002dfx.2_Missense_Mutation_p.Y327C|SYT17_uc002dfy.2_Missense_Mutation_p.Y384C|SYT17_uc002dfv.1_Missense_Mutation_p.Y327C	p.Y388C	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN			7	1494	+			388			C2 2.		O43330|Q9NZ18	Missense_Mutation	SNP	ENST00000355377.2	37	c.1163A>G	CCDS10575.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.535597	0.85812	.	.	ENSG00000103528	ENST00000355377	T	0.71341	-0.56	5.05	5.05	0.67936	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.56097	D	0.000025	D	0.84192	0.5418	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.86792	0.1986	10	0.87932	D	0	.	14.7969	0.69884	1.0:0.0:0.0:0.0	.	388;327	Q9BSW7;B4DJB2	SYT17_HUMAN;.	C	388	ENSP00000347538:Y388C	ENSP00000347538:Y388C	Y	+	2	0	SYT17	19143596	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.022000	0.70839	1.908000	0.55244	0.459000	0.35465	TAC		PASS	0.433	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		74	100	74	100	---	---	---	---
RPGRIP1L	23322	broad.mit.edu	37	16	53636053	53636053	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr16:53636053T>C	ENST00000379925.3	-	27	3933	c.3883A>G	c.(3883-3885)Aca>Gca	p.T1295A	RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.T1215A|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.T1261A	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1295					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)	p.T1295A(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GCTTCGACTGTTACCCTGAGC	0.453																																						uc002ehp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3883-3885)ACA>GCA		RPGRIP1-like isoform a							126.0	100.0	109.0					16																	53636053		2198	4300	6498	SO:0001583	missense	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53636053T>C		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.3883A>G	16.37:g.53636053T>C	ENSP00000369257:p.Thr1295Ala					RPGRIP1L_uc002eho.3_Missense_Mutation_p.T1215A|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.T1249A|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.T1261A	p.T1295A	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN			27	3947	-		all_cancers(37;0.0973)	1295					A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	c.3883A>G	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.820604	0.50633	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.68903	-0.36;-0.36	5.86	5.86	0.93980	.	0.060780	0.64402	D	0.000005	T	0.61899	0.2384	L	0.50333	1.59	0.80722	D	1	B;B;B	0.23377	0.055;0.084;0.024	B;B;B	0.27380	0.029;0.079;0.036	T	0.62220	-0.6900	10	0.72032	D	0.01	-15.422	10.7788	0.46365	0.0:0.0732:0.0:0.9268	.	1249;1295;1215	B7ZKJ9;Q68CZ1;Q68CZ1-2	.;FTM_HUMAN;.	A	1295;1215	ENSP00000369257:T1295A;ENSP00000262135:T1215A	ENSP00000262135:T1215A	T	-	1	0	RPGRIP1L	52193554	1.000000	0.71417	0.845000	0.33349	0.980000	0.70556	2.920000	0.48844	2.241000	0.73720	0.528000	0.53228	ACA		PASS	0.453	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		41	76	41	76	---	---	---	---
CMTM2	146225	broad.mit.edu	37	16	66620911	66620911	+	Silent	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr16:66620911C>T	ENST00000268595.2	+	3	607	c.456C>T	c.(454-456)aaC>aaT	p.N152N	CMTM2_ENST00000379486.2_Silent_p.N99N	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	152	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.N152N(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		ACCTCTTCAACGACCTGATTG	0.527																																						uc002ept.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(454-456)AAC>AAT		chemokine-like factor superfamily 2							208.0	160.0	176.0					16																	66620911		2201	4300	6501	SO:0001819	synonymous_variant	146225				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66620911C>T	BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"""chemokine-like factor super family 2"", ""chemokine-like factor superfamily 2"""	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.456C>T	16.37:g.66620911C>T						CMTM2_uc010cdu.2_Silent_p.N99N	p.N152N	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)	3	616	+		Ovarian(137;0.0563)	152			MARVEL.|Helical; (Potential).		Q5I2A4|Q8N7E5	Silent	SNP	ENST00000268595.2	37	c.456C>T	CCDS10814.1																																																																																				PASS	0.527	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268808.1			51	74	51	74	---	---	---	---
PDP2	57546	broad.mit.edu	37	16	66918558	66918558	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr16:66918558G>C	ENST00000311765.2	+	2	705	c.371G>C	c.(370-372)cGa>cCa	p.R124P	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	124					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)	p.R124P(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GAGGACCGGCGAGGTGTAGCC	0.537																																						uc002eqk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(370-372)CGA>CCA		pyruvate dehydrogenase phosphatase isoenzyme 2							88.0	69.0	76.0					16																	66918558		2200	4300	6500	SO:0001583	missense	57546				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	g.chr16:66918558G>C	AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	30263	protein-coding gene	gene with protein product	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"""	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.371G>C	16.37:g.66918558G>C	ENSP00000309548:p.Arg124Pro						p.R124P	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	2	533	+		Ovarian(137;0.0563)	124					A8K924	Missense_Mutation	SNP	ENST00000311765.2	37	c.371G>C	CCDS10822.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425556	0.62733	.	.	ENSG00000172840	ENST00000311765	T	0.09445	2.98	5.62	2.95	0.34219	Protein phosphatase 2C-like (4);	0.059685	0.64402	D	0.000005	T	0.27933	0.0688	M	0.82823	2.61	0.48511	D	0.999666	D	0.64830	0.994	P	0.60886	0.88	T	0.01235	-1.1410	10	0.40728	T	0.16	-0.1113	9.1624	0.37030	0.2373:0.0:0.7627:0.0	.	124	Q9P2J9	PDP2_HUMAN	P	124	ENSP00000309548:R124P	ENSP00000309548:R124P	R	+	2	0	PDP2	65476059	0.978000	0.34361	0.990000	0.47175	0.994000	0.84299	5.530000	0.67141	0.425000	0.26087	0.650000	0.86243	CGA		PASS	0.537	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268831.2	NM_020786		20	57	20	57	---	---	---	---
KCNG4	93107	broad.mit.edu	37	16	84271000	84271000	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr16:84271000A>G	ENST00000308251.4	-	2	160	c.92T>C	c.(91-93)aTg>aCg	p.M31T	KCNG4_ENST00000568181.1_Missense_Mutation_p.M31T	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	31					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.M31T(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CGGCGTCTCCATGGGGCTGGA	0.612																																						uc010voc.1																			1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(91-93)ATG>ACG		potassium voltage-gated channel, subfamily G,							42.0	45.0	44.0					16																	84271000		2200	4300	6500	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84271000A>G	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.92T>C	16.37:g.84271000A>G	ENSP00000312129:p.Met31Thr					KCNG4_uc002fhu.1_Missense_Mutation_p.M31T	p.M31T	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN			2	213	-			31			Cytoplasmic (Potential).		Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.92T>C	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	A	2.749	-0.260546	0.05791	.	.	ENSG00000168418	ENST00000308251	D	0.96041	-3.89	4.14	0.172	0.15031	.	10.894600	0.00166	N	0.000000	D	0.87293	0.6141	N	0.08118	0	0.09310	N	1	B;B	0.15930	0.0;0.015	B;B	0.14023	0.0;0.01	T	0.79555	-0.1755	10	0.18276	T	0.48	.	2.0895	0.03654	0.5852:0.1644:0.0917:0.1586	.	31;31	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	T	31	ENSP00000312129:M31T	ENSP00000312129:M31T	M	-	2	0	KCNG4	82828501	0.000000	0.05858	0.013000	0.15412	0.010000	0.07245	-0.121000	0.10643	0.046000	0.15833	0.448000	0.29417	ATG		PASS	0.612	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		36	60	36	60	---	---	---	---
ABR	29	broad.mit.edu	37	17	910478	910478	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr17:910478C>A	ENST00000302538.5	-	22	2563	c.2417G>T	c.(2416-2418)aGa>aTa	p.R806I	ABR_ENST00000543210.2_Missense_Mutation_p.R257I|ABR_ENST00000544583.2_Missense_Mutation_p.R760I|ABR_ENST00000572441.1_Intron|ABR_ENST00000536794.2_Missense_Mutation_p.R588I|ABR_ENST00000574437.1_Missense_Mutation_p.R760I|ABR_ENST00000291107.2_Missense_Mutation_p.R769I	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	806	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R806I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TTCTGAGGGTCTCAGTAACGT	0.582																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	uc002fsd.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(2416-2418)AGA>ATA		active breakpoint cluster region-related							214.0	177.0	190.0					17																	910478		2203	4300	6503	SO:0001583	missense	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:910478C>A	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.2417G>T	17.37:g.910478C>A	ENSP00000303909:p.Arg806Ile					ABR_uc002fse.2_Missense_Mutation_p.R760I|ABR_uc010vqf.1_Missense_Mutation_p.R257I|ABR_uc010vqg.1_Missense_Mutation_p.R588I|ABR_uc002fsg.2_Missense_Mutation_p.R769I|ABR_uc002fsf.2_Missense_Mutation_p.R343I	p.R806I	NM_021962	NP_068781	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	22	2527	-			806			Rho-GAP.		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	37	c.2417G>T	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	C	36	5.657285	0.96724	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794;ENST00000543210	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	6.17	6.17	0.99709	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.49490	0.1560	M	0.74546	2.27	0.80722	D	1	D;D;D;D;D	0.69078	0.979;0.997;0.997;0.994;0.992	D;D;D;D;D	0.80764	0.936;0.994;0.994;0.981;0.962	T	0.41360	-0.9513	10	0.72032	D	0.01	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	588;257;769;716;806	B7Z683;F5H3S2;Q12979-2;B7Z2X0;Q12979	.;.;.;.;ABR_HUMAN	I	806;760;769;588;257	ENSP00000303909:R806I;ENSP00000442048:R760I;ENSP00000291107:R769I;ENSP00000437429:R588I;ENSP00000445198:R257I	ENSP00000291107:R769I	R	-	2	0	ABR	857228	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.811000	0.86092	2.941000	0.99782	0.655000	0.94253	AGA		PASS	0.582	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			4	94	4	94	---	---	---	---
NLRP1	22861	broad.mit.edu	37	17	5433898	5433898	+	Silent	SNP	T	T	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr17:5433898T>C	ENST00000572272.1	-	12	3422	c.3423A>G	c.(3421-3423)ccA>ccG	p.P1141P	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Silent_p.P1141P|NLRP1_ENST00000354411.3_Silent_p.P1111P|NLRP1_ENST00000262467.5_Silent_p.P1145P|NLRP1_ENST00000345221.3_Silent_p.P1141P|NLRP1_ENST00000577119.1_Silent_p.P1111P			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1141					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.P1141P(2)|p.P1145P(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGCTGTGCTGTGGGTTGATCT	0.572																																						uc002gci.2																			3	Substitution - coding silent(3)		lung(3)	lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9						c.(3421-3423)CCA>CCG		NLR family, pyrin domain containing 1 isoform 1							84.0	75.0	78.0					17																	5433898		2203	4300	6503	SO:0001819	synonymous_variant	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5433898T>C	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.3423A>G	17.37:g.5433898T>C						NLRP1_uc002gcg.1_Silent_p.P1145P|NLRP1_uc002gck.2_Silent_p.P1141P|NLRP1_uc002gcj.2_Silent_p.P1111P|NLRP1_uc002gcl.2_Silent_p.P1111P|NLRP1_uc002gch.3_Silent_p.P1141P|NLRP1_uc010clh.2_Silent_p.P1141P	p.P1141P	NM_033004	NP_127497	Q9C000	NALP1_HUMAN			12	3978	-		Colorectal(1115;3.48e-05)	1141					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	ENST00000572272.1	37	c.3423A>G	CCDS42246.1																																																																																				PASS	0.572	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		33	76	33	76	---	---	---	---
ZBTB4	57659	broad.mit.edu	37	17	7367112	7367112	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr17:7367112T>A	ENST00000311403.4	-	4	1528	c.1189A>T	c.(1189-1191)Agt>Tgt	p.S397C	ZBTB4_ENST00000380599.4_Missense_Mutation_p.S397C	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	397					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)	p.S397C(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GTCTTCTCACTGGCAAGGAGG	0.567																																						uc002ghc.3																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1189-1191)AGT>TGT		zinc finger and BTB domain containing 4							108.0	113.0	112.0					17																	7367112		2203	4300	6503	SO:0001583	missense	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7367112T>A	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.1189A>T	17.37:g.7367112T>A	ENSP00000307858:p.Ser397Cys					ZBTB4_uc002ghd.3_Missense_Mutation_p.S397C	p.S397C	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	4	1439	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	397					B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	ENST00000311403.4	37	c.1189A>T	CCDS11107.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.217166	0.58560	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.04502	3.61;3.61	4.92	4.92	0.64577	.	0.111906	0.56097	D	0.000022	T	0.07593	0.0191	L	0.27053	0.805	0.33618	D	0.60441	D	0.62365	0.991	P	0.55785	0.784	T	0.14868	-1.0457	10	0.59425	D	0.04	-0.7877	8.0321	0.30472	0.1809:0.0:0.0:0.8191	.	397	Q9P1Z0	ZBTB4_HUMAN	C	397	ENSP00000307858:S397C;ENSP00000369973:S397C	ENSP00000307858:S397C	S	-	1	0	ZBTB4	7307836	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.395000	0.66291	2.084000	0.62774	0.374000	0.22700	AGT		PASS	0.567	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		143	57	143	57	---	---	---	---
ZBTB4	57659	broad.mit.edu	37	17	7367123	7367123	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr17:7367123C>A	ENST00000311403.4	-	4	1517	c.1178G>T	c.(1177-1179)gGc>gTc	p.G393V	ZBTB4_ENST00000380599.4_Missense_Mutation_p.G393V	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	393					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)	p.G393V(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GGCAAGGAGGCCCGGGCTAAT	0.582																																						uc002ghc.3																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1177-1179)GGC>GTC		zinc finger and BTB domain containing 4							107.0	113.0	111.0					17																	7367123		2203	4300	6503	SO:0001583	missense	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7367123C>A	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.1178G>T	17.37:g.7367123C>A	ENSP00000307858:p.Gly393Val					ZBTB4_uc002ghd.3_Missense_Mutation_p.G393V	p.G393V	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	4	1428	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	393					B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	ENST00000311403.4	37	c.1178G>T	CCDS11107.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392684	0.42410	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.04049	3.72;3.72	4.92	4.92	0.64577	.	0.224071	0.38663	N	0.001607	T	0.04048	0.0113	N	0.24115	0.695	0.80722	D	1	P	0.41313	0.745	B	0.35727	0.209	T	0.57985	-0.7716	10	0.29301	T	0.29	-12.2535	15.2088	0.73202	0.0:1.0:0.0:0.0	.	393	Q9P1Z0	ZBTB4_HUMAN	V	393	ENSP00000307858:G393V;ENSP00000369973:G393V	ENSP00000307858:G393V	G	-	2	0	ZBTB4	7307847	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	3.215000	0.51169	2.578000	0.87016	0.456000	0.33151	GGC		PASS	0.582	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		142	55	142	55	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)CGT>TGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	p.R273C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1011	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		PASS	0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		45	16	45	16	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7667312	7667312	+	Silent	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr17:7667312C>T	ENST00000572933.1	+	19	4602	c.3142C>T	c.(3142-3144)Ctg>Ttg	p.L1048L	DNAH2_ENST00000389173.2_Silent_p.L1048L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1048	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L1048L(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGGCGCCTCCTGGAGCTGCA	0.627																																						uc002giu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(3142-3144)CTG>TTG		dynein heavy chain domain 3							60.0	59.0	59.0					17																	7667312		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7667312C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3142C>T	17.37:g.7667312C>T							p.L1048L	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			18	3156	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1048			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.3142C>T	CCDS32551.1																																																																																				PASS	0.627	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		36	61	36	61	---	---	---	---
GAS7	8522	broad.mit.edu	37	17	9923208	9923208	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr17:9923208C>T	ENST00000432992.2	-	2	350	c.190G>A	c.(190-192)Gga>Aga	p.G64R	GAS7_ENST00000540214.1_5'UTR|GAS7_ENST00000585266.1_Missense_Mutation_p.G4R|GAS7_ENST00000323816.4_Missense_Mutation_p.G4R|GAS7_ENST00000396115.2_5'UTR|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000579158.1_5'UTR|GAS7_ENST00000542249.1_5'UTR|GAS7_ENST00000437099.2_5'UTR	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	64					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G64R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GGGACCATTCCAGGCTTCTGT	0.527			T	MLL	AML*																																	uc002gmg.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		1	Substitution - Missense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(190-192)GGA>AGA		growth arrest-specific 7 isoform c							37.0	43.0	41.0					17																	9923208		2203	4300	6503	SO:0001583	missense	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9923208C>T	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.190G>A	17.37:g.9923208C>T	ENSP00000407552:p.Gly64Arg					GAS7_uc010vvd.1_Missense_Mutation_p.G16R|GAS7_uc002gmi.2_5'UTR|GAS7_uc002gmj.1_Missense_Mutation_p.G4R|GAS7_uc010coh.1_Missense_Mutation_p.G4R	p.G64R	NM_201433	NP_958839	O60861	GAS7_HUMAN			2	351	-			64					A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	c.190G>A	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323030	0.41096	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000537970	T	0.18657	2.2	5.02	5.02	0.67125	Src homology-3 domain (1);	0.207305	0.23461	U	0.047930	T	0.16342	0.0393	L	0.42744	1.35	0.80722	D	1	B;B;B	0.25904	0.053;0.053;0.137	B;B;B	0.18561	0.013;0.013;0.022	T	0.04607	-1.0939	9	.	.	.	-10.3576	9.3056	0.37874	0.0:0.9051:0.0:0.0949	.	16;4;64	B7Z2L1;A8KAC2;O60861	.;.;GAS7_HUMAN	R	64;4;3;4	ENSP00000379421:G4R	.	G	-	1	0	GAS7	9863933	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.806000	0.38892	2.620000	0.88729	0.563000	0.77884	GGA		PASS	0.527	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		39	59	39	59	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10441034	10441034	+	Missense_Mutation	SNP	G	G	T	rs376478405		TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr17:10441034G>T	ENST00000245503.5	-	15	1919	c.1535C>A	c.(1534-1536)aCg>aAg	p.T512K	MYH2_ENST00000532183.2_Missense_Mutation_p.T512K|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.T512K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	512	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.T512K(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GTCGATGAACGTCCACTCGAT	0.473																																						uc010coi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(1534-1536)ACG>AAG		myosin heavy chain IIa							221.0	184.0	197.0					17																	10441034		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10441034G>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1535C>A	17.37:g.10441034G>T	ENSP00000245503:p.Thr512Lys					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.T512K|MYH2_uc010coj.2_Missense_Mutation_p.T512K	p.T512K	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			15	1663	-			512			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.1535C>A	CCDS11156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.69|11.69	1.713651|1.713651	0.30413|0.30413	.|.	.|.	ENSG00000125414|ENSG00000214970	ENST00000532183;ENST00000245503;ENST00000397183|ENST00000399342	D;D;D|.	0.86865|.	-2.18;-2.18;-2.18|.	5.51|5.51	-0.683|-0.683	0.11335|0.11335	Myosin head, motor domain (2);|.	0.460166|.	0.15844|.	U|.	0.241892|.	T|T	0.47040|0.47040	0.1424|0.1424	L|L	0.35288|0.35288	1.05|1.05	0.09310|0.09310	N|N	1|1	B;B|.	0.20164|.	0.042;0.0|.	B;B|.	0.26969|.	0.075;0.011|.	T|T	0.54316|0.54316	-0.8312|-0.8312	10|6	0.52906|0.87932	T|D	0.07|0	.|.	16.918|16.918	0.86156|0.86156	0.0:0.0:0.2784:0.7216|0.0:0.0:0.2784:0.7216	.|.	512;512|.	Q567P6;Q9UKX2|.	.;MYH2_HUMAN|.	K|F	512|36	ENSP00000433944:T512K;ENSP00000245503:T512K;ENSP00000380367:T512K|.	ENSP00000245503:T512K|ENSP00000382280:V36F	T|V	-|+	2|1	0|0	MYH2|AC005323.1	10381759|10381759	0.000000|0.000000	0.05858|0.05858	0.012000|0.012000	0.15200|0.15200	0.652000|0.652000	0.38707|0.38707	-0.477000|-0.477000	0.06583|0.06583	-0.018000|-0.018000	0.14079|0.14079	0.655000|0.655000	0.94253|0.94253	ACG|GTC		PASS	0.473	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		86	177	86	177	---	---	---	---
COPS3	8533	broad.mit.edu	37	17	17168116	17168116	+	Splice_Site	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr17:17168116C>A	ENST00000268717.5	-	6	727	c.621G>T	c.(619-621)caG>caT	p.Q207H	COPS3_ENST00000539941.2_Splice_Site_p.Q187H|COPS3_ENST00000439936.2_Splice_Site_p.Q187H	NM_003653.3	NP_003644.2	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	207	PCI.				cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)		p.Q207H(1)		NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GAGAGATTACCTGTTCATAAA	0.403																																						uc002grd.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(619-621)CAG>CAT		COP9 constitutive photomorphogenic homolog							69.0	70.0	70.0					17																	17168116		2203	4300	6503	SO:0001630	splice_region_variant	8533				cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding	g.chr17:17168116C>A	AF031647	CCDS11183.1, CCDS56022.1	17p11.2	2013-03-14	2013-03-14		ENSG00000141030	ENSG00000141030			2239	protein-coding gene	gene with protein product		604665	"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 3"", ""COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis)"""			9535219, 10191102	Standard	NM_003653		Approved	SGN3, CSN3	uc002grd.3	Q9UNS2	OTTHUMG00000059281	ENST00000268717.5:c.621+1G>T	17.37:g.17168116C>A						COPS3_uc010vwv.1_Missense_Mutation_p.Q187H|COPS3_uc010vww.1_Missense_Mutation_p.Q77H	p.Q207H	NM_003653	NP_003644	Q9UNS2	CSN3_HUMAN			6	712	-			207			PCI.		B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	ENST00000268717.5	37	c.621G>T	CCDS11183.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245880	0.80024	.	.	ENSG00000141030	ENST00000268717;ENST00000539941;ENST00000417352;ENST00000439936	T;T;T	0.64803	-0.12;-0.12;-0.12	5.76	5.76	0.90799	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	N	0.20986	0.625	0.80722	D	1	B	0.12630	0.006	B	0.14023	0.01	T	0.40627	-0.9553	9	.	.	.	-16.5985	18.9546	0.92654	0.0:1.0:0.0:0.0	.	207	Q9UNS2	CSN3_HUMAN	H	207;187;207;231	ENSP00000268717:Q207H;ENSP00000437606:Q187H;ENSP00000409028:Q207H	.	Q	-	3	2	COPS3	17108841	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.726000	0.84824	2.718000	0.92993	0.655000	0.94253	CAG		PASS	0.403	COPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131603.2		Missense_Mutation	4	133	4	133	---	---	---	---
KCNJ12	3768	broad.mit.edu	37	17	21318885	21318885	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr17:21318885C>G	ENST00000583088.1	+	3	1126	c.231C>G	c.(229-231)gaC>gaG	p.D77E	KCNJ12_ENST00000331718.5_Missense_Mutation_p.D77E	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	77					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.D77E(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CCTGTGTGGACATCCGCTGGC	0.572										Prostate(3;0.18)																												uc002gyv.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(229-231)GAC>GAG		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						217.0	135.0	163.0					17																	21318885		2203	4300	6503	SO:0001583	missense	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21318885C>G	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.231C>G	17.37:g.21318885C>G	ENSP00000463778:p.Asp77Glu	Prostate(3;0.18)					p.D77E	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	936	+			77			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.231C>G	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357075	0.61293	.	.	ENSG00000184185	ENST00000331718	D	0.96913	-4.17	5.33	-0.959	0.10343	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.97216	0.9090	M	0.74546	2.27	0.45261	D	0.998269	D	0.67145	0.996	D	0.85130	0.997	D	0.95927	0.8935	10	0.62326	D	0.03	.	12.1832	0.54223	0.0:0.528:0.0:0.472	.	77	Q14500	IRK12_HUMAN	E	77	ENSP00000328150:D77E	ENSP00000328150:D77E	D	+	3	2	KCNJ12	21259478	0.983000	0.35010	0.998000	0.56505	0.996000	0.88848	0.268000	0.18571	-0.009000	0.14296	0.591000	0.81541	GAC		PASS	0.572	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		3	69	3	69	---	---	---	---
KCNJ12	3768	broad.mit.edu	37	17	21319631	21319631	+	Missense_Mutation	SNP	G	G	T	rs571189780	byFrequency	TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr17:21319631G>T	ENST00000583088.1	+	3	1872	c.977G>T	c.(976-978)cGc>cTc	p.R326L	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R326L	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	326					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.R326L(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TGGGGTCACCGCTTTGAGCCC	0.587										Prostate(3;0.18)																												uc002gyv.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(976-978)CGC>CTC		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						142.0	144.0	143.0					17																	21319631		2203	4300	6503	SO:0001583	missense	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21319631G>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.977G>T	17.37:g.21319631G>T	ENSP00000463778:p.Arg326Leu	Prostate(3;0.18)					p.R326L	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1682	+			326			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.977G>T	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646414	0.87958	.	.	ENSG00000184185	ENST00000331718	D	0.95412	-3.7	5.63	5.63	0.86233	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.052406	0.64402	D	0.000001	D	0.98745	0.9578	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99399	1.0927	10	0.87932	D	0	.	19.6736	0.95921	0.0:0.0:1.0:0.0	.	326	Q14500	IRK12_HUMAN	L	326	ENSP00000328150:R326L	ENSP00000328150:R326L	R	+	2	0	KCNJ12	21260224	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	9.698000	0.98700	2.664000	0.90586	0.561000	0.74099	CGC		PASS	0.587	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		23	212	23	212	---	---	---	---
MYO18A	399687	broad.mit.edu	37	17	27447713	27447713	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr17:27447713T>C	ENST00000527372.1	-	7	1829	c.1649A>G	c.(1648-1650)aAt>aGt	p.N550S	MYO18A_ENST00000354329.4_Missense_Mutation_p.N550S|MYO18A_ENST00000533112.1_Missense_Mutation_p.N550S|MYO18A_ENST00000531253.1_Missense_Mutation_p.N550S	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	550	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.N550S(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GGCATTGCCATTAATGATGGT	0.577																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1648-1650)AAT>AGT		myosin 18A isoform a							69.0	79.0	76.0					17																	27447713		2016	4176	6192	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27447713T>C	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.1649A>G	17.37:g.27447713T>C	ENSP00000437073:p.Asn550Ser					MYO18A_uc010wbc.1_Missense_Mutation_p.N92S|MYO18A_uc002hds.2_Missense_Mutation_p.N92S|MYO18A_uc010csa.1_Missense_Mutation_p.N550S|MYO18A_uc002hdu.1_Missense_Mutation_p.N550S|MYO18A_uc010wbd.1_Missense_Mutation_p.N219S	p.N550S	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		7	1807	-			550			Myosin head-like.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.1649A>G	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387670	0.42308	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68	5.73	5.73	0.89815	Myosin head, motor domain (3);DNA recombination/repair protein RecA, monomer-monomer interface (1);	0.084158	0.85682	D	0.000000	D	0.86083	0.5848	M	0.80616	2.505	0.51012	D	0.9999	B;D;P;P;B	0.55385	0.153;0.971;0.775;0.775;0.299	B;P;B;B;B	0.47162	0.129;0.54;0.266;0.266;0.157	D	0.86000	0.1494	10	0.33940	T	0.23	.	15.7063	0.77583	0.0:0.0:0.0:1.0	.	219;162;550;550;550	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	S	550;550;550;550;550;162	ENSP00000346291:N550S;ENSP00000435932:N550S;ENSP00000434228:N550S;ENSP00000437073:N550S	ENSP00000346291:N550S	N	-	2	0	MYO18A	24471839	1.000000	0.71417	0.973000	0.42090	0.943000	0.58893	7.662000	0.83803	2.197000	0.70478	0.533000	0.62120	AAT		PASS	0.577	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		6	85	6	85	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27958425	27958425	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr17:27958425T>C	ENST00000269033.3	-	15	3857	c.3706A>G	c.(3706-3708)Aaa>Gaa	p.K1236E	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.K1263E	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1236					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.K1236E(1)	SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGATTTCTTTAGCACGCTCC	0.517																																						uc002heo.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(3706-3708)AAA>GAA		slingshot 2							86.0	85.0	85.0					17																	27958425		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27958425T>C	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.3706A>G	17.37:g.27958425T>C	ENSP00000269033:p.Lys1236Glu					SSH2_uc010wbh.1_Missense_Mutation_p.K1263E	p.K1236E	NM_033389	NP_203747	Q76I76	SSH2_HUMAN			15	3706	-			1236					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.3706A>G	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	T	11.18	1.562990	0.27915	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.37752	1.18;1.18	6.17	1.11	0.20524	.	1.482820	0.03488	N	0.216160	T	0.40040	0.1101	M	0.64997	1.995	0.80722	D	1	B;B	0.18610	0.029;0.017	B;B	0.14578	0.011;0.005	T	0.17471	-1.0368	10	0.51188	T	0.08	-11.1801	10.3542	0.43954	0.0:0.0624:0.4942:0.4435	.	1263;1236	F5H527;Q76I76	.;SSH2_HUMAN	E	1236;1263	ENSP00000269033:K1236E;ENSP00000444743:K1263E	ENSP00000269033:K1236E	K	-	1	0	SSH2	24982551	0.449000	0.25689	0.937000	0.37676	0.417000	0.31264	0.544000	0.23253	0.171000	0.19730	0.533000	0.62120	AAA		PASS	0.517	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		43	79	43	79	---	---	---	---
SLFN11	91607	broad.mit.edu	37	17	33679610	33679610	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr17:33679610T>A	ENST00000394566.1	-	7	2743	c.2471A>T	c.(2470-2472)tAt>tTt	p.Y824F	SLFN11_ENST00000308377.4_Missense_Mutation_p.Y824F	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	824					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.Y824F(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAAGAGCTCATACTTATAGTG	0.483																																						uc010ctp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(2470-2472)TAT>TTT		schlafen family member 11							172.0	148.0	156.0					17																	33679610		2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33679610T>A	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.2471A>T	17.37:g.33679610T>A	ENSP00000378067:p.Tyr824Phe					SLFN11_uc010ctq.2_Missense_Mutation_p.Y824F|SLFN11_uc002hjh.3_Missense_Mutation_p.Y824F|SLFN11_uc002hjg.3_Missense_Mutation_p.Y824F|SLFN11_uc010ctr.2_Missense_Mutation_p.Y824F	p.Y824F	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	7	2913	-		Ovarian(249;0.17)	824					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.2471A>T	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	t	3.307	-0.141601	0.06669	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	D;D	0.81821	-1.54;-1.54	4.0	-2.96	0.05547	.	2.944940	0.01150	N	0.006380	T	0.59810	0.2221	N	0.14661	0.345	0.09310	N	1	P	0.36535	0.557	B	0.29176	0.099	T	0.53906	-0.8372	10	0.10377	T	0.69	.	7.5489	0.27783	0.0:0.0929:0.5478:0.3593	.	824	Q7Z7L1	SLN11_HUMAN	F	824	ENSP00000312402:Y824F;ENSP00000378067:Y824F	ENSP00000312402:Y824F	Y	-	2	0	SLFN11	30703723	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.168000	0.03123	-0.789000	0.04498	0.533000	0.62120	TAT		PASS	0.483	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		39	79	39	79	---	---	---	---
GPATCH8	23131	broad.mit.edu	37	17	42478442	42478442	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr17:42478442C>A	ENST00000591680.1	-	8	1033	c.1003G>T	c.(1003-1005)Gat>Tat	p.D335Y	GPATCH8_ENST00000434000.1_Missense_Mutation_p.D257Y	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	335							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D335Y(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTCTTCTCATCGGGTTTTGTT	0.458											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002igw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(1003-1005)GAT>TAT		G patch domain containing 8							125.0	132.0	129.0					17																	42478442		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42478442C>A	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.1003G>T	17.37:g.42478442C>A	ENSP00000467556:p.Asp335Tyr		OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	909	GPATCH8_uc002igv.1_Missense_Mutation_p.D257Y|GPATCH8_uc010wiz.1_Missense_Mutation_p.D257Y	p.D335Y	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	8	1067	-		Prostate(33;0.0181)	335					B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.1003G>T	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319291	0.41096	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.12361	2.69	5.22	5.22	0.72569	.	0.252894	0.37261	N	0.002180	T	0.17959	0.0431	L	0.36672	1.1	0.49798	D	0.999827	P	0.49447	0.924	P	0.45660	0.489	T	0.00585	-1.1658	10	0.66056	D	0.02	-11.1943	18.9747	0.92731	0.0:1.0:0.0:0.0	.	335	Q9UKJ3	GPTC8_HUMAN	Y	335;257	ENSP00000395016:D257Y	ENSP00000335486:D335Y	D	-	1	0	GPATCH8	39833968	0.998000	0.40836	0.994000	0.49952	0.830000	0.47004	4.490000	0.60319	2.701000	0.92244	0.557000	0.71058	GAT		PASS	0.458	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		100	155	100	155	---	---	---	---
FZD2	2535	broad.mit.edu	37	17	42635963	42635963	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr17:42635963C>T	ENST00000315323.3	+	1	1039	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	303					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R303C(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCTCCAGGAGCGCGTGGTGTG	0.607																																						uc002igx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(907-909)CGC>TGC		frizzled 2 precursor							61.0	59.0	60.0					17																	42635963		2203	4300	6503	SO:0001583	missense	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42635963C>T	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.907C>T	17.37:g.42635963C>T	ENSP00000323901:p.Arg303Cys						p.R303C	NM_001466	NP_001457	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	1039	+		Prostate(33;0.0181)	303			Extracellular (Potential).		Q0VG82	Missense_Mutation	SNP	ENST00000315323.3	37	c.907C>T	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	c	17.28	3.348679	0.61183	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.82619	-1.63	4.85	4.85	0.62838	GPCR, family 2-like (1);	0.235324	0.34777	N	0.003691	D	0.86239	0.5885	M	0.70595	2.14	0.40733	D	0.982769	P	0.52463	0.953	P	0.52386	0.697	D	0.88214	0.2892	10	0.72032	D	0.01	.	11.9108	0.52737	0.2908:0.7092:0.0:0.0	.	303	Q14332	FZD2_HUMAN	C	379;303	ENSP00000323901:R303C	ENSP00000323901:R303C	R	+	1	0	FZD2	39991489	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.731000	0.47343	2.198000	0.70561	0.561000	0.74099	CGC		PASS	0.607	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		25	47	25	47	---	---	---	---
CLTC	1213	broad.mit.edu	37	17	57724840	57724840	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr17:57724840G>T	ENST00000269122.3	+	3	606	c.332G>T	c.(331-333)tGg>tTg	p.W111L	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.W111L	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	111	Globular terminal domain.|WD40-like repeat 3.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.W111L(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GTCACCTTTTGGAAATGGATC	0.368			T	"""ALK, TFE3"""	"""ALCL, renal """																																	uc002ixq.1				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	ALK|TFE3		ALCL|renal 	CLTC/ALK(44)|CLTC/TFE3(2)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48						c.(331-333)TGG>TTG		clathrin heavy chain 1							171.0	152.0	158.0					17																	57724840		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57724840G>T	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.332G>T	17.37:g.57724840G>T	ENSP00000269122:p.Trp111Leu					CLTC_uc002ixp.2_Missense_Mutation_p.W111L|CLTC_uc002ixr.1_Missense_Mutation_p.W115L	p.W111L	NM_004859	NP_004850	Q00610	CLH1_HUMAN			3	775	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		111			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.332G>T	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412567	0.83340	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.33438	1.41;1.41	5.69	5.69	0.88448	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.85682	D	0.000000	T	0.69788	0.3150	H	0.95645	3.7	0.80722	D	1	D;D	0.71674	0.965;0.998	D;D	0.79108	0.963;0.992	T	0.79227	-0.1890	10	0.87932	D	0	.	19.8057	0.96531	0.0:0.0:1.0:0.0	.	111;111	Q00610;Q00610-2	CLH1_HUMAN;.	L	111	ENSP00000269122:W111L;ENSP00000376763:W111L	ENSP00000269122:W111L	W	+	2	0	CLTC	55079622	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	9.869000	0.99810	2.682000	0.91365	0.655000	0.94253	TGG		PASS	0.368	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		4	187	4	187	---	---	---	---
NACA2	342538	broad.mit.edu	37	17	59668102	59668102	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr17:59668102C>G	ENST00000521764.1	-	1	461	c.440G>C	c.(439-441)gGt>gCt	p.G147A		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	147					myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.G147A(1)		large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					GACAGCTTCACCTTGAACTCT	0.453																																						uc002izj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(439-441)GGT>GCT		nascent-polypeptide-associated complex alpha							207.0	196.0	200.0					17																	59668102		2203	4300	6503	SO:0001583	missense	342538				protein transport	cytoplasm|nucleus		g.chr17:59668102C>G	BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"""alpha-NAC protein"""	609274	"""nascent-polypeptide-associated complex alpha polypeptide-like"""	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.440G>C	17.37:g.59668102C>G	ENSP00000427802:p.Gly147Ala						p.G147A	NM_199290	NP_954984	Q9H009	NACA2_HUMAN			1	466	-	all_epithelial(1;3.12e-14)		147					Q2VIR9	Missense_Mutation	SNP	ENST00000521764.1	37	c.440G>C	CCDS11630.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294283	0.60086	.	.	ENSG00000253506	ENST00000521764	T	0.39997	1.05	0.753	0.753	0.18404	.	0.000000	0.64402	U	0.000002	T	0.35219	0.0924	N	0.10760	0.04	0.48901	D	0.999727	D	0.76494	0.999	D	0.79108	0.992	T	0.10268	-1.0637	9	.	.	.	.	7.3227	0.26536	0.0:1.0:0.0:0.0	.	147	Q9H009	NACA2_HUMAN	A	147	ENSP00000427802:G147A	.	G	-	2	0	NACA2	57022884	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	5.234000	0.65343	0.702000	0.31825	0.411000	0.27672	GGT		PASS	0.453	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2	NM_199290		142	224	142	224	---	---	---	---
CCDC57	284001	broad.mit.edu	37	17	80059581	80059581	+	Missense_Mutation	SNP	G	G	C	rs558941844		TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr17:80059581G>C	ENST00000389641.4	-	18	2764	c.2728C>G	c.(2728-2730)Cgt>Ggt	p.R910G	CCDC57_ENST00000392347.1_Missense_Mutation_p.R910G			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	910								p.R910G(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TTGTAGTTACGGATCTTGGGG	0.602																																						uc002kdx.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2725-2727)CGT>GGT		coiled-coil domain containing 57							98.0	109.0	106.0					17																	80059581		1891	4105	5996	SO:0001583	missense	284001							g.chr17:80059581G>C	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.2728C>G	17.37:g.80059581G>C	ENSP00000374292:p.Arg910Gly						p.R909G	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		17	2762	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		910					A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37	c.2725C>G		.	.	.	.	.	.	.	.	.	.	g	4.044	0.005855	0.07866	.	.	ENSG00000176155	ENST00000389641;ENST00000392347	T;T	0.41400	1.0;1.0	3.26	0.485	0.16830	.	.	.	.	.	T	0.27313	0.0670	L	0.29908	0.895	0.51012	D	0.999901	P	0.39424	0.673	B	0.40329	0.326	T	0.04579	-1.0941	9	0.33940	T	0.23	.	5.0286	0.14398	0.13:0.0:0.6098:0.2601	.	910	Q2TAC2	CCD57_HUMAN	G	910	ENSP00000374292:R910G;ENSP00000376158:R910G	ENSP00000374292:R910G	R	-	1	0	CCDC57	77652870	1.000000	0.71417	0.993000	0.49108	0.156000	0.22039	1.852000	0.39348	0.482000	0.27582	-0.461000	0.05368	CGT		PASS	0.602	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		70	152	70	152	---	---	---	---
MYO1F	4542	broad.mit.edu	37	19	8601932	8601932	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr19:8601932G>T	ENST00000338257.8	-	17	1967	c.1700C>A	c.(1699-1701)gCc>gAc	p.A567D		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	567	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A567D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						caggtcgttggcttgtttctg	0.582																																						uc002mkg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1699-1701)GCC>GAC		myosin IF							46.0	49.0	48.0					19																	8601932		2061	4220	6281	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8601932G>T	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1700C>A	19.37:g.8601932G>T	ENSP00000344871:p.Ala567Asp						p.A567D	NM_012335	NP_036467	O00160	MYO1F_HUMAN			17	1814	-			567			Myosin head-like.		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.1700C>A	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583564	0.86748	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.87729	-2.29	4.31	4.31	0.51392	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.95265	0.8464	H	0.95745	3.715	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.96615	0.9455	10	0.72032	D	0.01	.	15.5994	0.76613	0.0:0.0:1.0:0.0	.	567	O00160	MYO1F_HUMAN	D	612;567	ENSP00000344871:A567D	ENSP00000304899:A612D	A	-	2	0	MYO1F	8507932	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.569000	0.98170	2.257000	0.74773	0.478000	0.44815	GCC		PASS	0.582	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			16	6	16	6	---	---	---	---
OLFM2	93145	broad.mit.edu	37	19	9968059	9968059	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr19:9968059T>A	ENST00000264833.4	-	4	645	c.460A>T	c.(460-462)Agg>Tgg	p.R154W	OLFM2_ENST00000590841.1_Missense_Mutation_p.R76W	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	154					protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)		p.R154W(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GAGAGATTCCTCACCTCCTCC	0.627																																						uc002mmp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(460-462)AGG>TGG		olfactomedin 2 precursor							104.0	82.0	90.0					19																	9968059		2203	4300	6503	SO:0001583	missense	93145					extracellular region		g.chr19:9968059T>A	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.460A>T	19.37:g.9968059T>A	ENSP00000264833:p.Arg154Trp					OLFM2_uc002mmo.2_Missense_Mutation_p.R76W	p.R154W	NM_058164	NP_477512	O95897	NOE2_HUMAN			4	488	-			154			Potential.		Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	c.460A>T	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	T	14.15	2.449937	0.43531	.	.	ENSG00000105088	ENST00000264833	D	0.88818	-2.43	3.84	-1.23	0.09465	.	0.055857	0.64402	D	0.000004	D	0.88727	0.6515	L	0.52573	1.65	0.41943	D	0.99062	D	0.62365	0.991	P	0.54759	0.76	D	0.85242	0.1039	9	.	.	.	.	13.9967	0.64407	0.0:0.0:0.7396:0.2604	.	154	O95897	NOE2_HUMAN	W	154	ENSP00000264833:R154W	.	R	-	1	2	OLFM2	9829059	0.000000	0.05858	0.959000	0.39883	0.083000	0.17756	-0.362000	0.07602	-0.620000	0.05641	-0.648000	0.03929	AGG		PASS	0.627	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			49	18	49	18	---	---	---	---
ZNF490	57474	broad.mit.edu	37	19	12691342	12691342	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr19:12691342G>A	ENST00000311437.6	-	5	1669	c.1547C>T	c.(1546-1548)tCt>tTt	p.S516F	CTD-2192J16.20_ENST00000593682.1_Missense_Mutation_p.L150F|ZNF490_ENST00000465656.1_5'Flank	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	516					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S516F(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CACGTGCAAAGACTTTGAGTA	0.388																																						uc002mtz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1546-1548)TCT>TTT		zinc finger protein 490							182.0	164.0	170.0					19																	12691342		2203	4300	6503	SO:0001583	missense	57474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12691342G>A	AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"""Zinc fingers, C2H2-type"", ""-"""	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.1547C>T	19.37:g.12691342G>A	ENSP00000311521:p.Ser516Phe						p.S516F	NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN			5	1676	-			516			C2H2-type 13.			Missense_Mutation	SNP	ENST00000311437.6	37	c.1547C>T	CCDS12272.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.677112	0.29783	.	.	ENSG00000188033	ENST00000311437	T	0.16073	2.37	0.832	-0.36	0.12568	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17280	0.0415	M	0.63843	1.955	0.09310	N	1	P	0.44734	0.842	B	0.42653	0.394	T	0.13072	-1.0523	9	0.46703	T	0.11	.	5.1771	0.15141	0.2381:0.0:0.7619:0.0	.	516	Q9ULM2	ZN490_HUMAN	F	516	ENSP00000311521:S516F	ENSP00000311521:S516F	S	-	2	0	ZNF490	12552342	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-1.683000	0.01934	-0.077000	0.12752	0.313000	0.20887	TCT		PASS	0.388	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	NM_020714		124	54	124	54	---	---	---	---
SLC1A6	6511	broad.mit.edu	37	19	15061013	15061013	+	Silent	SNP	A	A	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr19:15061013A>T	ENST00000221742.3	-	9	1696	c.1689T>A	c.(1687-1689)gcT>gcA	p.A563A	SLC1A6_ENST00000430939.2_Silent_p.A499A|SLC1A6_ENST00000600144.1_Silent_p.A485A	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	563					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.A563A(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						CCCCTCACATAGCACTCTCGT	0.647																																						uc002naa.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(3)|ovary(2)|skin(1)	6						c.(1687-1689)GCT>GCA		solute carrier family 1 (high affinity	L-Glutamic Acid(DB00142)						22.0	20.0	20.0					19																	15061013		2203	4299	6502	SO:0001819	synonymous_variant	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15061013A>T		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1689T>A	19.37:g.15061013A>T						SLC1A6_uc010dzu.1_Silent_p.A485A|SLC1A6_uc010xod.1_Silent_p.A499A	p.A563A	NM_005071	NP_005062	P48664	EAA4_HUMAN			9	1697	-			563					Q8N753	Silent	SNP	ENST00000221742.3	37	c.1689T>A	CCDS12321.1																																																																																				PASS	0.647	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		19	9	19	9	---	---	---	---
EIF3K	27335	broad.mit.edu	37	19	39114783	39114783	+	Silent	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr19:39114783C>T	ENST00000592558.1	+	3	283	c.225C>T	c.(223-225)acC>acT	p.T75T	EIF3K_ENST00000593062.1_3'UTR|EIF3K_ENST00000545173.2_Silent_p.T75T|EIF3K_ENST00000248342.4_Silent_p.T75T|EIF3K_ENST00000593149.1_5'UTR|EIF3K_ENST00000588934.1_Silent_p.T75T|EIF3K_ENST00000538434.1_5'UTR					eukaryotic translation initiation factor 3, subunit K									p.T75T(1)	EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGCCCTCACCAACTTGCCGC	0.577																																						uc002oiz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(223-225)ACC>ACT		eukaryotic translation initiation factor 3,							115.0	96.0	103.0					19																	39114783		2203	4300	6503	SO:0001819	synonymous_variant	27335				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity	g.chr19:39114783C>T	AB019392	CCDS12517.1, CCDS74360.1	19q13.2	2012-05-28	2007-07-27	2007-07-27	ENSG00000178982	ENSG00000178982			24656	protein-coding gene	gene with protein product		609596	"""eukaryotic translation initiation factor 3, subunit 12"""	EIF3S12		11042152, 14519125	Standard	XM_006723147		Approved	eIF3k, PRO1474, HSPC029, PTD001, PLAC-24, M9, ARG134	uc002oiz.1	Q9UBQ5		ENST00000592558.1:c.225C>T	19.37:g.39114783C>T						EIF3K_uc010xuh.1_Silent_p.T75T|EIF3K_uc010xui.1_5'UTR	p.T75T	NM_013234	NP_037366	Q9UBQ5	EIF3K_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	412	+	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		75						Silent	SNP	ENST00000592558.1	37	c.225C>T																																																																																					PASS	0.577	EIF3K-012	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000453416.1	NM_013234		58	63	58	63	---	---	---	---
LIG1	3978	broad.mit.edu	37	19	48643270	48643270	+	Missense_Mutation	SNP	C	C	G	rs3730947	byFrequency	TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr19:48643270C>G	ENST00000263274.7	-	12	1464	c.1045G>C	c.(1045-1047)Gtg>Ctg	p.V349L	LIG1_ENST00000536218.1_Missense_Mutation_p.V281L|LIG1_ENST00000427526.2_Missense_Mutation_p.V318L	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	349			V -> M (in dbSNP:rs3730947). {ECO:0000269|Ref.2}.		anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.V349L(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CCATCACCCACGCCAAGCTCC	0.642								Nucleotide excision repair (NER)																														uc002pia.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(1)	3						c.(1045-1047)GTG>CTG	NER	DNA ligase I	Bleomycin(DB00290)						95.0	88.0	90.0					19																	48643270		2203	4300	6503	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48643270C>G		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.1045G>C	19.37:g.48643270C>G	ENSP00000263274:p.Val349Leu					LIG1_uc010xze.1_Missense_Mutation_p.V42L|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.V281L|LIG1_uc010xzg.1_Missense_Mutation_p.V318L|LIG1_uc010xzh.1_RNA	p.V349L	NM_000234	NP_000225	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	12	1165	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	349					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.1045G>C	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295972	0.40594	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218;ENST00000542460	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	4.89	1.55	0.23275	DNA ligase, ATP-dependent, N-terminal (3);	0.447839	0.23731	N	0.045139	T	0.09818	0.0241	L	0.35249	1.045	0.34722	D	0.728858	B;B;B	0.18968	0.009;0.006;0.032	B;B;B	0.25291	0.02;0.012;0.059	T	0.16928	-1.0386	10	0.33141	T	0.24	-8.5117	7.0808	0.25229	0.0:0.6204:0.0:0.3796	.	318;281;349	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	L	349;380;318;281;317	ENSP00000263274:V349L;ENSP00000442841:V318L;ENSP00000441531:V281L;ENSP00000445928:V317L	ENSP00000263274:V349L	V	-	1	0	LIG1	53335082	0.162000	0.22906	0.030000	0.17652	0.921000	0.55340	0.553000	0.23391	0.195000	0.20347	0.655000	0.94253	GTG		PASS	0.642	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		57	132	57	132	---	---	---	---
KLK6	5653	broad.mit.edu	37	19	51471320	51471320	+	Splice_Site	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr19:51471320C>A	ENST00000376851.3	-	2	480		c.e2+1		KLK6_ENST00000594641.1_Splice_Site|KLK6_ENST00000424910.2_Splice_Site|CTB-147C22.9_ENST00000594512.1_RNA|KLK6_ENST00000310157.2_Splice_Site|KLK6_ENST00000376853.4_Splice_Site|KLK6_ENST00000391808.1_Intron	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6						amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.?(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		CCTTTCCCCACCTGCAGCAAT	0.582																																						uc002pui.2																			1	Unknown(1)		lung(1)		0						c.e3+1		kallikrein-related peptidase 6 isoform A							232.0	177.0	196.0					19																	51471320		2203	4300	6503	SO:0001630	splice_region_variant	5653				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	g.chr19:51471320C>A	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6367	protein-coding gene	gene with protein product		602652	"""protease, serine, 18"", ""kallikrein 6 (neurosin, zyme)"""	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.40+1G>T	19.37:g.51471320C>A						KLK6_uc010eoj.2_Intron|KLK6_uc002puh.2_Intron|KLK6_uc002puj.2_Intron|KLK6_uc010ycn.1_Splice_Site|KLK6_uc002pul.2_Splice_Site_p.A14_splice|KLK6_uc002pum.2_Splice_Site	p.A14_splice	NM_001012964	NP_001012982	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	3	300	-		all_neural(266;0.026)						A6NJA1|A8MW09|Q6H301	Splice_Site	SNP	ENST00000376851.3	37	c.40_splice	CCDS12811.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696740	0.30142	.	.	ENSG00000167755	ENST00000310157;ENST00000376851;ENST00000376853;ENST00000424910	.	.	.	3.41	3.41	0.39046	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6182	0.45462	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KLK6	56163132	0.997000	0.39634	0.965000	0.40720	0.171000	0.22731	1.443000	0.35057	2.206000	0.71126	0.557000	0.71058	.		PASS	0.582	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774	Intron	37	90	37	90	---	---	---	---
ZNF528	84436	broad.mit.edu	37	19	52919741	52919741	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr19:52919741G>T	ENST00000360465.3	+	7	2062	c.1636G>T	c.(1636-1638)Gag>Tag	p.E546*	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	546					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E546*(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TCATACTGGAGAGAGGCCTTA	0.388																																						uc002pzh.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1636-1638)GAG>TAG		zinc finger protein 528							90.0	81.0	84.0					19																	52919741		2203	4300	6503	SO:0001587	stop_gained	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52919741G>T	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1636G>T	19.37:g.52919741G>T	ENSP00000353652:p.Glu546*					ZNF528_uc002pzi.2_Nonsense_Mutation_p.E313*	p.E546*	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	2062	+			546					B3KPN4|Q86T88|Q96JK0	Nonsense_Mutation	SNP	ENST00000360465.3	37	c.1636G>T	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	G	38	7.088223	0.98055	.	.	ENSG00000167555	ENST00000360465	.	.	.	1.84	1.84	0.25277	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	10.648	0.45632	0.0:0.0:1.0:0.0	.	.	.	.	X	546	.	ENSP00000353652:E546X	E	+	1	0	ZNF528	57611553	0.986000	0.35501	0.392000	0.26245	0.033000	0.12548	1.745000	0.38278	0.991000	0.38814	0.563000	0.77884	GAG		PASS	0.388	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		32	60	32	60	---	---	---	---
ZNF761	388561	broad.mit.edu	37	19	53959562	53959562	+	RNA	SNP	A	A	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr19:53959562A>G	ENST00000454407.1	+	0	2254							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T547A(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GAAAATTCATACTGAAGAGAA	0.403																																						uc010eqp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1801-1803)ACT>GCT		zinc finger protein 761							112.0	116.0	115.0					19																	53959562		2203	4298	6501			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53959562A>G	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959562A>G						ZNF761_uc010ydy.1_Missense_Mutation_p.T547A|ZNF761_uc002qbt.1_Missense_Mutation_p.T547A	p.T601A	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	2259	+			601					Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37	c.1801A>G																																																																																					PASS	0.403	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		76	90	76	90	---	---	---	---
ZSCAN5B	342933	broad.mit.edu	37	19	56701255	56701255	+	Missense_Mutation	SNP	G	G	T	rs201511148		TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr19:56701255G>T	ENST00000586855.2	-	5	1742	c.1429C>A	c.(1429-1431)Cgt>Agt	p.R477S	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R477S			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	477					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R477S(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CCCAGCTGACGGAAGGCCTTT	0.557																																						uc010ygh.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1429-1431)CGT>AGT		zinc finger and SCAN domain containing 5B							76.0	76.0	76.0					19																	56701255		2072	4243	6315	SO:0001583	missense	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701255G>T		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1429C>A	19.37:g.56701255G>T	ENSP00000466072:p.Arg477Ser						p.R477S	NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN			4	1429	-			477			C2H2-type 5.			Missense_Mutation	SNP	ENST00000586855.2	37	c.1429C>A	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	G	0.092	-1.164905	0.01673	.	.	ENSG00000197213	ENST00000358992	T	0.07216	3.21	3.22	-3.32	0.04973	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03695	0.0105	N	0.21282	0.65	0.09310	N	0.999991	B	0.21381	0.055	B	0.14023	0.01	T	0.46148	-0.9212	9	0.05525	T	0.97	.	5.7288	0.18028	0.1168:0.0:0.2253:0.6579	.	477	A6NJL1	ZSA5B_HUMAN	S	477	ENSP00000351883:R477S	ENSP00000351883:R477S	R	-	1	0	ZSCAN5B	61393067	0.000000	0.05858	0.004000	0.12327	0.024000	0.10985	-0.493000	0.06459	-0.197000	0.10350	0.313000	0.20887	CGT		PASS	0.557	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		30	47	30	47	---	---	---	---
CDC25B	994	broad.mit.edu	37	20	3778334	3778334	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr20:3778334C>A	ENST00000245960.5	+	2	963	c.266C>A	c.(265-267)tCc>tAc	p.S89Y	CDC25B_ENST00000379598.5_Missense_Mutation_p.S25Y|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000344256.6_Missense_Mutation_p.S25Y|CDC25B_ENST00000340833.4_Missense_Mutation_p.S89Y|CDC25B_ENST00000439880.2_Missense_Mutation_p.S75Y	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	89					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.S75Y(1)|p.S89Y(1)		NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						ACGCACCTATCCCTGTCTCGA	0.617																																						uc002wjn.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)	5						c.(265-267)TCC>TAC		cell division cycle 25B isoform 1							78.0	80.0	80.0					20																	3778334		2203	4300	6503	SO:0001583	missense	994				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr20:3778334C>A		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.266C>A	20.37:g.3778334C>A	ENSP00000245960:p.Ser89Tyr					CDC25B_uc010zqk.1_Missense_Mutation_p.S25Y|CDC25B_uc010zql.1_Missense_Mutation_p.S11Y|CDC25B_uc010zqm.1_Missense_Mutation_p.S25Y|CDC25B_uc002wjl.2_5'UTR|CDC25B_uc002wjm.2_5'UTR|CDC25B_uc002wjo.2_Missense_Mutation_p.S75Y|CDC25B_uc002wjp.2_Missense_Mutation_p.S89Y|CDC25B_uc002wjq.2_5'Flank	p.S89Y	NM_021873	NP_068659	P30305	MPIP2_HUMAN			2	1044	+			89					D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	ENST00000245960.5	37	c.266C>A	CCDS13067.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257053	0.59321	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.19669	2.24;2.13;2.29;2.41;2.17	4.3	3.35	0.38373	.	806.309000	0.00357	N	0.000038	T	0.41419	0.1158	L	0.44542	1.39	0.22240	N	0.999263	P;D;P;P;D;P	0.65815	0.524;0.995;0.524;0.892;0.978;0.93	B;D;B;P;P;P	0.72982	0.226;0.979;0.131;0.518;0.714;0.502	T	0.13629	-1.0502	10	0.62326	D	0.03	-17.5349	8.6775	0.34187	0.0:0.8897:0.0:0.1103	.	25;11;25;89;75;89	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	Y	25;25;89;75;89	ENSP00000339125:S25Y;ENSP00000368918:S25Y;ENSP00000245960:S89Y;ENSP00000405972:S75Y;ENSP00000339170:S89Y	ENSP00000245960:S89Y	S	+	2	0	CDC25B	3726334	0.045000	0.20229	0.157000	0.22605	0.028000	0.11728	3.213000	0.51153	1.125000	0.41998	0.556000	0.70494	TCC		PASS	0.617	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		23	106	23	106	---	---	---	---
PAX1	5075	broad.mit.edu	37	20	21689252	21689252	+	Missense_Mutation	SNP	G	G	A	rs200890498		TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr20:21689252G>A	ENST00000398485.2	+	3	1027	c.973G>A	c.(973-975)Ggc>Agc	p.G325S	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.G301S	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	325					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G325S(1)|p.G231S(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						AGACTGGGCCGGCGTGAACCG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		17343	0.0		0.001	False		,,,				2504	0.0					uc002wsj.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|kidney(1)	2						c.(973-975)GGC>AGC		paired box 1							49.0	57.0	55.0					20																	21689252		2203	4300	6503	SO:0001583	missense	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21689252G>A		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.973G>A	20.37:g.21689252G>A	ENSP00000381499:p.Gly325Ser					PAX1_uc010zsl.1_Missense_Mutation_p.G325S|PAX1_uc010zsm.1_Missense_Mutation_p.G301S	p.G325S	NM_006192	NP_006183	P15863	PAX1_HUMAN			3	1027	+			325					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	c.973G>A	CCDS13146.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	2.030	-0.422570	0.04734	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.97772	-4.09;-4.53	5.3	-1.74	0.08056	.	0.615589	0.18206	N	0.148345	D	0.88407	0.6428	N	0.02539	-0.55	0.27399	N	0.954906	B;B;B	0.22080	0.024;0.001;0.064	B;B;B	0.15870	0.014;0.001;0.003	T	0.80942	-0.1157	10	0.07813	T	0.8	.	10.9953	0.47571	0.7049:0.0:0.2951:0.0	.	301;231;325	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	S	325;301	ENSP00000381499:G325S;ENSP00000410355:G301S	ENSP00000381499:G325S	G	+	1	0	PAX1	21637252	0.012000	0.17670	0.314000	0.25224	0.161000	0.22273	0.056000	0.14256	-0.327000	0.08551	0.455000	0.32223	GGC		PASS	0.597	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			47	65	47	65	---	---	---	---
RBL1	5933	broad.mit.edu	37	20	35684596	35684596	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr20:35684596C>T	ENST00000373664.3	-	10	1382	c.1316G>A	c.(1315-1317)tGt>tAt	p.C439Y	RBL1_ENST00000344359.3_Missense_Mutation_p.C439Y	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	439	Domain A.|Pocket; binds T and E1A.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)	p.C439Y(1)		NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				ATAGTGTTGACAGAAAGTCTC	0.363																																						uc002xgi.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|skin(3)|ovary(2)	10						c.(1315-1317)TGT>TAT		retinoblastoma-like protein 1 isoform a							169.0	140.0	150.0					20																	35684596		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35684596C>T	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.1316G>A	20.37:g.35684596C>T	ENSP00000362768:p.Cys439Tyr					RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.C439Y|RBL1_uc010gfv.1_RNA	p.C439Y	NM_002895	NP_002886	P28749	RBL1_HUMAN			10	1395	-		Myeloproliferative disorder(115;0.00878)	439			Domain A.|Pocket; binds T and E1A.		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.1316G>A	CCDS13289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.56|18.56	3.649640|3.649640	0.67358|0.67358	.|.	.|.	ENSG00000080839|ENSG00000080839	ENST00000373664;ENST00000344359|ENST00000525052	D;D|.	0.87334|.	-2.24;-2.24|.	4.64|4.64	4.64|4.64	0.57946|0.57946	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);|.	0.152434|.	0.56097|.	D|.	0.000023|.	T|T	0.71426|0.71426	0.3338|0.3338	M|M	0.63428|0.63428	1.95|1.95	0.47341|0.47341	D|D	0.999394|0.999394	D;P|.	0.67145|.	0.996;0.792|.	D;P|.	0.63597|.	0.916;0.542|.	T|T	0.70761|0.70761	-0.4784|-0.4784	10|5	0.51188|.	T|.	0.08|.	-27.0406|-27.0406	15.8756|15.8756	0.79159|0.79159	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	439;439|.	P28749-2;P28749|.	.;RBL1_HUMAN|.	Y|I	439|244	ENSP00000362768:C439Y;ENSP00000343646:C439Y|.	ENSP00000343646:C439Y|.	C|V	-|-	2|1	0|0	RBL1|RBL1	35118010|35118010	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	5.207000|5.207000	0.65197|0.65197	2.423000|2.423000	0.82170|0.82170	0.650000|0.650000	0.86243|0.86243	TGT|GTC		PASS	0.363	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		15	62	15	62	---	---	---	---
DHX35	60625	broad.mit.edu	37	20	37620141	37620141	+	Silent	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr20:37620141G>T	ENST00000252011.3	+	6	528	c.495G>T	c.(493-495)ccG>ccT	p.P165P	DHX35_ENST00000373323.4_Silent_p.P134P|DHX35_ENST00000373325.2_Silent_p.P165P	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	165	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.P165P(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TGGTTGATCCGTTGTTAACAA	0.353																																						uc002xjh.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|kidney(1)|skin(1)	3						c.(493-495)CCG>CCT		DEAH (Asp-Glu-Ala-His) box polypeptide 35							198.0	190.0	193.0					20																	37620141		2203	4300	6503	SO:0001819	synonymous_variant	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37620141G>T	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.495G>T	20.37:g.37620141G>T						DHX35_uc010zwa.1_Silent_p.P10P|DHX35_uc010zwb.1_Silent_p.P10P|DHX35_uc010zwc.1_Silent_p.P134P	p.P165P	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN			6	506	+		Myeloproliferative disorder(115;0.00878)	165			Helicase ATP-binding.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Silent	SNP	ENST00000252011.3	37	c.495G>T	CCDS13310.1																																																																																				PASS	0.353	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		28	67	28	67	---	---	---	---
RIMS4	140730	broad.mit.edu	37	20	43386757	43386757	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr20:43386757G>T	ENST00000372851.3	-	3	371	c.305C>A	c.(304-306)cCg>cAg	p.P102Q	RIMS4_ENST00000541604.2_Missense_Mutation_p.P103Q	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	102					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)		p.P102Q(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				AAACTGTGCCGGCCCCATGCT	0.582																																						uc002xms.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(304-306)CCG>CAG		regulating synaptic membrane exocytosis 4							43.0	45.0	44.0					20																	43386757		2203	4300	6503	SO:0001583	missense	140730				exocytosis|neurotransmitter transport	cell junction|synapse		g.chr20:43386757G>T		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.305C>A	20.37:g.43386757G>T	ENSP00000361942:p.Pro102Gln					RIMS4_uc010ggu.2_Missense_Mutation_p.P103Q	p.P102Q	NM_182970	NP_892015	Q9H426	RIMS4_HUMAN			3	305	-		Myeloproliferative disorder(115;0.0122)	102					A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.305C>A	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114284	0.94339	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.32988	1.57;1.43	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.58708	0.2141	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.964	T	0.61978	-0.6951	10	0.66056	D	0.02	.	19.3711	0.94488	0.0:0.0:1.0:0.0	.	103;102	E1P613;Q9H426	.;RIMS4_HUMAN	Q	102;103	ENSP00000361942:P102Q;ENSP00000439287:P103Q	ENSP00000361942:P102Q	P	-	2	0	RIMS4	42820171	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.585000	0.87301	0.655000	0.94253	CCG		PASS	0.582	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		25	67	25	67	---	---	---	---
EYA2	2139	broad.mit.edu	37	20	45801445	45801445	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr20:45801445G>T	ENST00000327619.5	+	12	1502	c.1128G>T	c.(1126-1128)tgG>tgT	p.W376C	EYA2_ENST00000317304.6_Missense_Mutation_p.W346C|EYA2_ENST00000357410.3_Missense_Mutation_p.W376C	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	376					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)	p.W376C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GCGTGGACTGGATGAGGAAGC	0.612																																					Pancreas(120;56 1725 18501 25218 43520)	uc002xsm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1126-1128)TGG>TGT		eyes absent 2 isoform a							101.0	82.0	89.0					20																	45801445		2203	4300	6503	SO:0001583	missense	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45801445G>T		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.1128G>T	20.37:g.45801445G>T	ENSP00000333640:p.Trp376Cys					EYA2_uc010ghp.2_Missense_Mutation_p.W376C|EYA2_uc002xsn.2_Missense_Mutation_p.W381C|EYA2_uc002xso.2_Missense_Mutation_p.W376C|EYA2_uc002xsp.2_Missense_Mutation_p.W376C|EYA2_uc002xsq.2_Missense_Mutation_p.W346C	p.W376C	NM_005244	NP_005235	O00167	EYA2_HUMAN			12	1502	+		Myeloproliferative disorder(115;0.0241)	376					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	c.1128G>T	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712893	0.89112	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304	D;D;D	0.81908	-1.55;-1.55;-1.55	5.59	5.59	0.84812	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.92665	0.7669	M	0.87456	2.885	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.998;0.997	D	0.93401	0.6760	10	0.87932	D	0	-25.1177	19.5758	0.95444	0.0:0.0:1.0:0.0	.	376;346;376;376	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	C	376;376;346;346	ENSP00000333640:W376C;ENSP00000349986:W376C;ENSP00000321590:W346C	ENSP00000321590:W346C	W	+	3	0	EYA2	45234852	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.761000	0.98940	2.632000	0.89209	0.655000	0.94253	TGG		PASS	0.612	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		41	48	41	48	---	---	---	---
KRTAP13-4	284827	broad.mit.edu	37	21	31802908	31802908	+	Silent	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr21:31802908G>T	ENST00000334068.2	+	1	337	c.315G>T	c.(313-315)ctG>ctT	p.L105L		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	105						intermediate filament (GO:0005882)		p.L105L(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						GCTACTCGCTGGGAAATGGAT	0.527																																					NSCLC(196;2401 3038 18004 35753)	uc011acw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(313-315)CTG>CTT		keratin associated protein 13-4							98.0	81.0	87.0					21																	31802908		2203	4300	6503	SO:0001819	synonymous_variant	284827					intermediate filament		g.chr21:31802908G>T	AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"""Keratin associated proteins"""	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.315G>T	21.37:g.31802908G>T							p.L105L	NM_181600	NP_853631	Q3LI77	KR134_HUMAN			1	315	+			105					A2RRL3	Silent	SNP	ENST00000334068.2	37	c.315G>T	CCDS13592.1																																																																																				PASS	0.527	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1			22	31	22	31	---	---	---	---
SYNJ1	8867	broad.mit.edu	37	21	34025600	34025600	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr21:34025600C>G	ENST00000322229.7	-	21	2871	c.2872G>C	c.(2872-2874)Gag>Cag	p.E958Q	SYNJ1_ENST00000433931.2_Missense_Mutation_p.E997Q|SYNJ1_ENST00000382499.2_Missense_Mutation_p.E997Q|SYNJ1_ENST00000357345.3_Missense_Mutation_p.E958Q|SYNJ1_ENST00000382491.3_Missense_Mutation_p.E953Q			O43426	SYNJ1_HUMAN	synaptojanin 1	958	Pro-rich.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.E958Q(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TACCTTACCTCTTTACCATTT	0.323																																						uc002yqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(2989-2991)GAG>CAG		synaptojanin 1 isoform a							77.0	75.0	76.0					21																	34025600		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34025600C>G	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.2872G>C	21.37:g.34025600C>G	ENSP00000322234:p.Glu958Gln					SYNJ1_uc011ads.1_Missense_Mutation_p.E953Q|SYNJ1_uc002yqf.2_Missense_Mutation_p.E958Q|SYNJ1_uc002yqg.2_Missense_Mutation_p.E953Q|SYNJ1_uc002yqi.2_Missense_Mutation_p.E997Q	p.E997Q	NM_003895	NP_003886	O43426	SYNJ1_HUMAN			22	2989	-			958			RRM.|Pro-rich.		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.2989G>C	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.694343	0.30052	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229	D;D;D;D;D	0.93712	-2.41;-3.25;-3.27;-2.45;-2.44	5.65	4.74	0.60224	Domain of unknown function DUF1866 (1);Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.215179	0.48767	N	0.000164	D	0.85596	0.5733	N	0.11201	0.11	0.36951	D	0.892861	B;B;B;B;B	0.19583	0.005;0.016;0.012;0.037;0.008	B;B;B;B;B	0.21360	0.007;0.034;0.015;0.034;0.011	T	0.82092	-0.0628	10	0.21540	T	0.41	.	14.6776	0.68993	0.0:0.7239:0.2761:0.0	.	953;997;958;958;958	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	Q	953;958;997;997;958	ENSP00000371931:E953Q;ENSP00000349903:E958Q;ENSP00000371939:E997Q;ENSP00000409667:E997Q;ENSP00000322234:E958Q	ENSP00000322234:E958Q	E	-	1	0	SYNJ1	32947471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.037000	0.41174	1.325000	0.45301	0.655000	0.94253	GAG		PASS	0.323	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				39	81	39	81	---	---	---	---
LSS	4047	broad.mit.edu	37	21	47627403	47627403	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr21:47627403T>A	ENST00000397728.3	-	15	1484	c.1406A>T	c.(1405-1407)gAg>gTg	p.E469V	LSS_ENST00000522411.1_Missense_Mutation_p.E458V|LSS_ENST00000356396.4_Missense_Mutation_p.E469V|LSS_ENST00000457828.2_Missense_Mutation_p.E389V	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	469					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)	p.E469V(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GGGACACTTCTCCTGCAGGAG	0.612																																					Pancreas(114;955 2313 34923 50507)	uc002zij.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1405-1407)GAG>GTG		lanosterol synthase isoform 1							109.0	82.0	91.0					21																	47627403		2203	4300	6503	SO:0001583	missense	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47627403T>A	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1406A>T	21.37:g.47627403T>A	ENSP00000380837:p.Glu469Val					LSS_uc011afv.1_Missense_Mutation_p.E458V|LSS_uc002zil.2_Missense_Mutation_p.E469V|LSS_uc002zik.2_Missense_Mutation_p.E389V	p.E469V	NM_001001438	NP_001001438	P48449	ERG7_HUMAN			15	1485	-	Breast(49;0.214)		469					B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	ENST00000397728.3	37	c.1406A>T	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	T	17.28	3.349896	0.61183	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.2	5.2	0.72013	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.098230	0.64402	D	0.000001	T	0.26159	0.0638	M	0.67625	2.065	0.80722	D	1	P;P	0.37864	0.61;0.475	B;B	0.28011	0.085;0.039	T	0.07309	-1.0779	10	0.38643	T	0.18	.	15.4429	0.75200	0.0:0.0:0.0:1.0	.	458;469	E9PEI9;P48449	.;ERG7_HUMAN	V	469;389;469;458	ENSP00000348762:E469V;ENSP00000409191:E389V;ENSP00000380837:E469V;ENSP00000429133:E458V	ENSP00000348762:E469V	E	-	2	0	LSS	46451831	1.000000	0.71417	0.945000	0.38365	0.990000	0.78478	5.906000	0.69900	2.271000	0.75665	0.533000	0.62120	GAG		PASS	0.612	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			12	16	12	16	---	---	---	---
CABIN1	23523	broad.mit.edu	37	22	24573530	24573530	+	Silent	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr22:24573530G>A	ENST00000398319.2	+	36	6649	c.6264G>A	c.(6262-6264)gaG>gaA	p.E2088E	CABIN1_ENST00000337989.7_Silent_p.E458E|CABIN1_ENST00000405822.2_Silent_p.E2009E|CABIN1_ENST00000263119.5_Silent_p.E2088E	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2088					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.E2088E(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGCGAGTGAGACTCAGCCCC	0.642																																						uc002zzi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(6262-6264)GAG>GAA		calcineurin binding protein 1							46.0	45.0	46.0					22																	24573530		2203	4299	6502	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24573530G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.6264G>A	22.37:g.24573530G>A						CABIN1_uc002zzj.1_Silent_p.E2009E|CABIN1_uc002zzl.1_Silent_p.E2088E|CABIN1_uc010gul.1_Silent_p.E26E	p.E2088E	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			36	6391	+			2088					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.6264G>A	CCDS13823.1																																																																																				PASS	0.642	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		19	102	19	102	---	---	---	---
CABIN1	23523	broad.mit.edu	37	22	24574123	24574123	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr22:24574123G>A	ENST00000398319.2	+	37	7007	c.6622G>A	c.(6622-6624)Gag>Aag	p.E2208K	CABIN1_ENST00000337989.7_Missense_Mutation_p.E578K|CABIN1_ENST00000405822.2_Missense_Mutation_p.E2129K|CABIN1_ENST00000263119.5_Missense_Mutation_p.E2208K	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2208					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.E2208K(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GTCCTCGCTGGAGAGCGAGAC	0.647																																						uc002zzi.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(6622-6624)GAG>AAG		calcineurin binding protein 1							62.0	58.0	60.0					22																	24574123		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24574123G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.6622G>A	22.37:g.24574123G>A	ENSP00000381364:p.Glu2208Lys					CABIN1_uc002zzj.1_Missense_Mutation_p.E2129K|CABIN1_uc002zzl.1_Missense_Mutation_p.E2208K|CABIN1_uc010gul.1_Missense_Mutation_p.E146K	p.E2208K	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			37	6749	+			2208					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.6622G>A	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	36	5.746841	0.96882	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319;ENST00000337989;ENST00000403176	T;T;T;D	0.92446	-0.81;-1.24;-0.81;-3.04	5.03	5.03	0.67393	.	0.055638	0.64402	D	0.000001	D	0.92116	0.7501	N	0.24115	0.695	0.80722	D	1	D;D	0.69078	0.997;0.996	P;P	0.61800	0.894;0.787	D	0.92537	0.6038	10	0.46703	T	0.11	.	17.7983	0.88579	0.0:0.0:1.0:0.0	.	2129;2208	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	K	2208;2129;2208;578;577	ENSP00000263119:E2208K;ENSP00000384694:E2129K;ENSP00000381364:E2208K;ENSP00000336991:E578K	ENSP00000263119:E2208K	E	+	1	0	CABIN1	22904123	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	7.319000	0.79040	2.521000	0.84997	0.650000	0.86243	GAG		PASS	0.647	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		10	105	10	105	---	---	---	---
CABIN1	23523	broad.mit.edu	37	22	24574135	24574135	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr22:24574135G>C	ENST00000398319.2	+	37	7019	c.6634G>C	c.(6634-6636)Gac>Cac	p.D2212H	CABIN1_ENST00000337989.7_Missense_Mutation_p.D582H|CABIN1_ENST00000405822.2_Missense_Mutation_p.D2133H|CABIN1_ENST00000263119.5_Missense_Mutation_p.D2212H	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2212					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.D2212H(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAGCGAGACAGACGAGGACGA	0.662																																						uc002zzi.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(6634-6636)GAC>CAC		calcineurin binding protein 1							62.0	58.0	59.0					22																	24574135		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24574135G>C	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.6634G>C	22.37:g.24574135G>C	ENSP00000381364:p.Asp2212His					CABIN1_uc002zzj.1_Missense_Mutation_p.D2133H|CABIN1_uc002zzl.1_Missense_Mutation_p.D2212H|CABIN1_uc010gul.1_Missense_Mutation_p.D150H	p.D2212H	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			37	6761	+			2212					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.6634G>C	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370430	0.61624	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319;ENST00000337989;ENST00000403176	T;T;T;D	0.90004	-0.39;-0.66;-0.39;-2.6	5.03	5.03	0.67393	.	0.057700	0.64402	D	0.000003	D	0.90321	0.6972	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.972	D	0.92032	0.5634	10	0.72032	D	0.01	.	17.7983	0.88579	0.0:0.0:1.0:0.0	.	2133;2212	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	H	2212;2133;2212;582;581	ENSP00000263119:D2212H;ENSP00000384694:D2133H;ENSP00000381364:D2212H;ENSP00000336991:D582H	ENSP00000263119:D2212H	D	+	1	0	CABIN1	22904135	1.000000	0.71417	0.714000	0.30535	0.146000	0.21551	9.170000	0.94795	2.521000	0.84997	0.650000	0.86243	GAC		PASS	0.662	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		9	85	9	85	---	---	---	---
SUSD2	56241	broad.mit.edu	37	22	24580888	24580888	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr22:24580888C>A	ENST00000358321.3	+	5	1023	c.762C>A	c.(760-762)agC>agA	p.S254R		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	254					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.S254R(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						TCATCGACAGCAAAAATTACG	0.592																																						uc002zzn.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(760-762)AGC>AGA		sushi domain containing 2 precursor							92.0	83.0	86.0					22																	24580888		2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24580888C>A	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.762C>A	22.37:g.24580888C>A	ENSP00000351075:p.Ser254Arg						p.S254R	NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN			5	806	+			254			Extracellular (Potential).		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.762C>A	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930798	0.52866	.	.	ENSG00000099994	ENST00000358321	T	0.21031	2.03	3.57	2.54	0.30619	.	0.101332	0.64402	D	0.000003	T	0.30103	0.0754	M	0.74258	2.255	0.26024	N	0.981829	P	0.52316	0.952	P	0.52267	0.694	T	0.07501	-1.0769	10	0.38643	T	0.18	-23.6889	5.8854	0.18878	0.0:0.7573:0.0:0.2427	.	254	Q9UGT4	SUSD2_HUMAN	R	254	ENSP00000351075:S254R	ENSP00000351075:S254R	S	+	3	2	SUSD2	22910888	0.734000	0.28142	0.004000	0.12327	0.155000	0.21991	1.296000	0.33389	0.841000	0.35020	0.437000	0.28790	AGC		PASS	0.592	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		15	58	15	58	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42607579	42607579	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr22:42607579G>T	ENST00000359486.3	-	1	3869	c.3733C>A	c.(3733-3735)Cat>Aat	p.H1245N	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.H1245N	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.H1245N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TGAGAAGAATGATCCTCCTGG	0.483																																						uc003bcj.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(3733-3735)CAT>AAT		transcription factor 20 isoform 1							121.0	111.0	115.0					22																	42607579		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42607579G>T	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3733C>A	22.37:g.42607579G>T	ENSP00000352463:p.His1245Asn					TCF20_uc003bck.1_Missense_Mutation_p.H1245N|TCF20_uc003bnt.2_Missense_Mutation_p.H1245N	p.H1245N	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			1	3867	-			1245					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.3733C>A	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198314	0.38806	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.57595	0.39;0.39	5.53	5.53	0.82687	.	0.079044	0.53938	D	0.000054	T	0.37812	0.1017	N	0.08118	0	0.80722	D	1	B;B	0.26547	0.152;0.094	B;B	0.30495	0.116;0.054	T	0.16897	-1.0387	10	0.23891	T	0.37	-18.8112	19.6556	0.95837	0.0:0.0:1.0:0.0	.	1245;1245	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	N	1245	ENSP00000352463:H1245N;ENSP00000335561:H1245N	ENSP00000335561:H1245N	H	-	1	0	TCF20	40937523	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.575000	0.82447	2.882000	0.98803	0.655000	0.94253	CAT		PASS	0.483	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		4	126	4	126	---	---	---	---
PARVG	64098	broad.mit.edu	37	22	44585083	44585083	+	Missense_Mutation	SNP	G	G	A	rs375768996		TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr22:44585083G>A	ENST00000444313.3	+	6	821	c.337G>A	c.(337-339)Gtg>Atg	p.V113M	PARVG_ENST00000415224.1_Missense_Mutation_p.V113M|PARVG_ENST00000422871.1_Missense_Mutation_p.V113M	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	113	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.V113M(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GCTGGAGGCCGTGAACCGGAG	0.657																																						uc011aqe.1																			1	Substitution - Missense(1)		lung(1)		0						c.(337-339)GTG>ATG		parvin, gamma							106.0	96.0	100.0					22																	44585083		2203	4300	6503	SO:0001583	missense	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44585083G>A	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.337G>A	22.37:g.44585083G>A	ENSP00000391583:p.Val113Met					PARVG_uc003bep.2_Missense_Mutation_p.V113M|PARVG_uc011aqf.1_Missense_Mutation_p.V113M|PARVG_uc003beq.2_RNA|PARVG_uc003ber.2_RNA	p.V113M	NM_001137605	NP_001131077	Q9HBI0	PARVG_HUMAN			6	761	+		Ovarian(80;0.024)|all_neural(38;0.0299)	113			CH 1.		B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Missense_Mutation	SNP	ENST00000444313.3	37	c.337G>A	CCDS14057.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742837	0.49151	.	.	ENSG00000138964	ENST00000422871;ENST00000444313;ENST00000415224	T;T;T	0.65178	-0.14;-0.14;-0.14	4.86	-0.201	0.13212	Calponin homology domain (4);	0.382349	0.24433	N	0.038567	T	0.63212	0.2492	M	0.64567	1.98	0.09310	N	1	D	0.63880	0.993	P	0.59171	0.853	T	0.52823	-0.8524	10	0.52906	T	0.07	-21.1548	1.5875	0.02647	0.2886:0.1414:0.4261:0.144	.	113	Q9HBI0	PARVG_HUMAN	M	113	ENSP00000391453:V113M;ENSP00000391583:V113M;ENSP00000416761:V113M	ENSP00000349378:V113M	V	+	1	0	PARVG	42916416	0.000000	0.05858	0.198000	0.23420	0.709000	0.40893	0.069000	0.14552	0.436000	0.26393	0.555000	0.69702	GTG		PASS	0.657	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		22	50	22	50	---	---	---	---
SHROOM2	357	broad.mit.edu	37	X	9864198	9864198	+	Silent	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:9864198C>A	ENST00000380913.3	+	4	2340	c.2250C>A	c.(2248-2250)ggC>ggA	p.G750G		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	750	ASD1. {ECO:0000255|PROSITE- ProRule:PRU00637}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)	p.G750G(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GCATCGGAGGCCGGAGACGGT	0.637																																						uc004csu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2248-2250)GGC>GGA		apical protein of Xenopus-like							13.0	13.0	13.0					X																	9864198		2198	4286	6484	SO:0001819	synonymous_variant	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9864198C>A	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.2250C>A	X.37:g.9864198C>A							p.G750G	NM_001649	NP_001640	Q13796	SHRM2_HUMAN			4	2340	+		Hepatocellular(5;0.000888)	750			ASD1.		B9EIQ7	Silent	SNP	ENST00000380913.3	37	c.2250C>A	CCDS14135.1																																																																																				PASS	0.637	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		11	20	11	20	---	---	---	---
NHS	4810	broad.mit.edu	37	X	17739652	17739652	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:17739652A>G	ENST00000380060.3	+	4	1282	c.944A>G	c.(943-945)cAg>cGg	p.Q315R	NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Missense_Mutation_p.Q159R	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	336					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.Q315R(1)|p.Q159R(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CTGGACAAGCAGACCAACTGG	0.473																																						uc004cxx.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(943-945)CAG>CGG		Nance-Horan syndrome protein isoform 1							232.0	183.0	200.0					X																	17739652		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17739652A>G		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.944A>G	X.37:g.17739652A>G	ENSP00000369400:p.Gln315Arg					NHS_uc011mix.1_Missense_Mutation_p.Q336R|NHS_uc004cxy.2_Missense_Mutation_p.Q159R|NHS_uc004cxz.2_Missense_Mutation_p.Q138R|NHS_uc004cya.2_Missense_Mutation_p.Q38R	p.Q315R	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			4	1282	+	Hepatocellular(33;0.183)		315					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.944A>G	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.481273	0.84747	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.58210	0.57;0.35	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.74374	0.3708	M	0.81802	2.56	0.58432	D	0.999998	D;D;D;D	0.89917	0.972;1.0;0.998;0.996	P;D;D;D	0.85130	0.88;0.997;0.994;0.986	T	0.78383	-0.2225	10	0.87932	D	0	-16.3188	15.388	0.74718	1.0:0.0:0.0:0.0	.	336;157;159;315	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	R	315;159;157	ENSP00000369400:Q315R;ENSP00000381170:Q159R	ENSP00000369397:Q157R	Q	+	2	0	NHS	17649573	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.576000	0.82467	2.018000	0.59344	0.486000	0.48141	CAG		PASS	0.473	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		39	94	39	94	---	---	---	---
APOO	79135	broad.mit.edu	37	X	23886727	23886727	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:23886727C>A	ENST00000379226.4	-	5	602	c.371G>T	c.(370-372)gGa>gTa	p.G124V	APOO_ENST00000379220.3_Missense_Mutation_p.G105V	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	124					lipid transport (GO:0006869)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|mitochondrion (GO:0005739)|very-low-density lipoprotein particle (GO:0034361)		p.G124V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						CAAAAGGAGTCCAATAAGGCC	0.393																																						uc004dax.2																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)GGA>GTA		apolipoprotein O precursor							65.0	58.0	60.0					X																	23886727		2203	4300	6503	SO:0001583	missense	79135				lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle		g.chrX:23886727C>A	BC016814	CCDS14208.1	Xp22.11	2013-01-24	2007-01-17	2007-01-17	ENSG00000184831	ENSG00000184831		"""Apolipoproteins"""	28727	protein-coding gene	gene with protein product		300753	"""family with sequence similarity 121B"""	FAM121B		12975309, 16956892	Standard	NR_026545		Approved	MGC4825, My025	uc004dax.3	Q9BUR5	OTTHUMG00000021259	ENST00000379226.4:c.371G>T	X.37:g.23886727C>A	ENSP00000368528:p.Gly124Val					APOO_uc004daw.2_RNA|APOO_uc004day.3_RNA	p.G124V	NM_024122	NP_077027	Q9BUR5	APOO_HUMAN			5	602	-			124			Helical; (Potential).		B2R4K9|Q9H3J9	Missense_Mutation	SNP	ENST00000379226.4	37	c.371G>T	CCDS14208.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598833	0.66332	.	.	ENSG00000184831	ENST00000379226;ENST00000439528;ENST00000379220	T;T;T	0.18016	2.24;2.24;2.24	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.47210	0.1433	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.53767	-0.8392	10	0.87932	D	0	-9.1966	15.1971	0.73100	0.0:1.0:0.0:0.0	.	124	Q9BUR5	APOO_HUMAN	V	124;104;105	ENSP00000368528:G124V;ENSP00000402557:G104V;ENSP00000368522:G105V	ENSP00000368522:G105V	G	-	2	0	APOO	23796648	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.916000	0.63362	2.293000	0.77203	0.600000	0.82982	GGA		PASS	0.393	APOO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056074.1	NM_024122		29	54	29	54	---	---	---	---
APOO	79135	broad.mit.edu	37	X	23886748	23886748	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:23886748A>C	ENST00000379226.4	-	5	581	c.350T>G	c.(349-351)aTt>aGt	p.I117S	APOO_ENST00000379220.3_Missense_Mutation_p.I98S	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	117					lipid transport (GO:0006869)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|mitochondrion (GO:0005739)|very-low-density lipoprotein particle (GO:0034361)		p.I117S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						AGCAAAACCAATAACACCAAG	0.388																																						uc004dax.2																			1	Substitution - Missense(1)		lung(1)		0						c.(349-351)ATT>AGT		apolipoprotein O precursor							64.0	56.0	59.0					X																	23886748		2203	4300	6503	SO:0001583	missense	79135				lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle		g.chrX:23886748A>C	BC016814	CCDS14208.1	Xp22.11	2013-01-24	2007-01-17	2007-01-17	ENSG00000184831	ENSG00000184831		"""Apolipoproteins"""	28727	protein-coding gene	gene with protein product		300753	"""family with sequence similarity 121B"""	FAM121B		12975309, 16956892	Standard	NR_026545		Approved	MGC4825, My025	uc004dax.3	Q9BUR5	OTTHUMG00000021259	ENST00000379226.4:c.350T>G	X.37:g.23886748A>C	ENSP00000368528:p.Ile117Ser					APOO_uc004daw.2_RNA|APOO_uc004day.3_RNA	p.I117S	NM_024122	NP_077027	Q9BUR5	APOO_HUMAN			5	581	-			117			Helical; (Potential).		B2R4K9|Q9H3J9	Missense_Mutation	SNP	ENST00000379226.4	37	c.350T>G	CCDS14208.1	.	.	.	.	.	.	.	.	.	.	A	18.77	3.694354	0.68386	.	.	ENSG00000184831	ENST00000379226;ENST00000439528;ENST00000379220	T;T;T	0.17054	2.3;2.3;2.3	5.46	5.46	0.80206	.	0.056062	0.64402	D	0.000001	T	0.40932	0.1137	M	0.82517	2.595	0.58432	D	0.99999	D	0.61697	0.99	P	0.60949	0.881	T	0.42932	-0.9422	10	0.87932	D	0	-5.9231	12.0677	0.53598	1.0:0.0:0.0:0.0	.	117	Q9BUR5	APOO_HUMAN	S	117;97;98	ENSP00000368528:I117S;ENSP00000402557:I97S;ENSP00000368522:I98S	ENSP00000368522:I98S	I	-	2	0	APOO	23796669	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.866000	0.69590	1.835000	0.53391	0.486000	0.48141	ATT		PASS	0.388	APOO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056074.1	NM_024122		30	56	30	56	---	---	---	---
KLHL15	80311	broad.mit.edu	37	X	24006149	24006149	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:24006149G>T	ENST00000328046.8	-	4	1959	c.1704C>A	c.(1702-1704)aaC>aaA	p.N568K		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	568					protein ubiquitination (GO:0016567)			p.N568K(1)		autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						CCTTCCACTTGTTTTCATCCG	0.458																																						uc004dba.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1702-1704)AAC>AAA		kelch-like 15							159.0	132.0	141.0					X																	24006149		2203	4300	6503	SO:0001583	missense	80311							g.chrX:24006149G>T	AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.1704C>A	X.37:g.24006149G>T	ENSP00000332791:p.Asn568Lys						p.N568K	NM_030624	NP_085127	Q96M94	KLH15_HUMAN			4	1960	-			568			Kelch 5.		Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	ENST00000328046.8	37	c.1704C>A	CCDS35217.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572996	0.45798	.	.	ENSG00000174010	ENST00000328046	D	0.81739	-1.53	5.94	2.86	0.33363	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.86146	0.5863	M	0.69823	2.125	0.47308	D	0.99938	D	0.57899	0.981	D	0.65140	0.932	D	0.85312	0.1079	10	0.87932	D	0	.	9.4154	0.38519	0.3404:0.0:0.6596:0.0	.	568	Q96M94	KLH15_HUMAN	K	568	ENSP00000332791:N568K	ENSP00000332791:N568K	N	-	3	2	KLHL15	23916070	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	3.588000	0.53964	0.515000	0.28320	0.506000	0.49869	AAC		PASS	0.458	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383		99	127	99	127	---	---	---	---
DYNLT3	6990	broad.mit.edu	37	X	37699873	37699873	+	Silent	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:37699873G>T	ENST00000378578.4	-	5	432	c.306C>A	c.(304-306)acC>acA	p.T102T	TM4SF2_ENST00000465127.1_Intron|DYNLT3_ENST00000432389.2_Silent_p.T108T|DYNLT3_ENST00000378581.3_Silent_p.T102T	NM_006520.2	NP_006511.1	P51808	DYLT3_HUMAN	dynein, light chain, Tctex-type 3	102					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)|transport (GO:0006810)	cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	motor activity (GO:0003774)	p.T102T(1)		endometrium(1)|lung(1)|skin(1)	3						TACAGTTCATGGTCCGGTTCT	0.328																																						uc004dds.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(304-306)ACC>ACA		dynein, light chain, Tctex-type 3							80.0	64.0	69.0					X																	37699873		2202	4300	6502	SO:0001819	synonymous_variant	6990				cell division|mitosis|regulation of mitotic cell cycle|transport	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|nucleus|plasma membrane	motor activity	g.chrX:37699873G>T	U02556	CCDS14243.1	Xp21	2013-01-18	2005-11-25	2005-11-25	ENSG00000165169	ENSG00000165169		"""Cytoplasmic dyneins"""	11694	protein-coding gene	gene with protein product		300302	"""t-complex-associated-testis-expressed 1-like"""	TCTE1L		8004092	Standard	NM_006520		Approved	TCTEX1L	uc004dds.3	P51808	OTTHUMG00000033172	ENST00000378578.4:c.306C>A	X.37:g.37699873G>T							p.T102T	NM_006520	NP_006511	P51808	DYLT3_HUMAN			5	432	-			102					Q6ICS3	Silent	SNP	ENST00000378578.4	37	c.306C>A	CCDS14243.1																																																																																				PASS	0.328	DYNLT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080876.1	NM_006520		23	27	23	27	---	---	---	---
WAS	7454	broad.mit.edu	37	X	48549500	48549500	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:48549500G>A	ENST00000376701.4	+	12	1531	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	486	Asp/Glu-rich (acidic).				actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)	p.E486K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCCTCCAGACGAAGGGGAGGA	0.582			"""Mis, N, F, S"""			lymphoma																																uc004dkm.3				X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	Mis|N|F|S	Wiskott-Aldrich syndrome			L		lymphoma			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1456-1458)GAA>AAA		Wiskott-Aldrich syndrome protein							215.0	145.0	169.0					X																	48549500		2203	4300	6503	SO:0001583	missense	7454	Wiskott-Aldrich_syndrome			blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	g.chrX:48549500G>A	AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"""eczema-thrombocytopenia"""	300392	"""thrombocytopenia 1 (X-linked)"", ""Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"""	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.1456G>A	X.37:g.48549500G>A	ENSP00000365891:p.Glu486Lys						p.E486K	NM_000377	NP_000368	P42768	WASP_HUMAN			12	1513	+		all_lung(315;1.27e-10)	486			Asp/Glu-rich (acidic).		Q9BU11|Q9UNJ9	Missense_Mutation	SNP	ENST00000376701.4	37	c.1456G>A	CCDS14303.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706283	0.68615	.	.	ENSG00000015285	ENST00000376701	D	0.95622	-3.76	4.7	4.7	0.59300	Wiscott-Aldrich syndrome, C-terminal (1);	0.066232	0.64402	D	0.000015	D	0.97142	0.9066	M	0.77616	2.38	0.40843	D	0.983688	D	0.76494	0.999	D	0.70716	0.97	D	0.97705	1.0187	10	0.62326	D	0.03	-17.3306	12.3836	0.55322	0.0:0.0:1.0:0.0	.	486	P42768	WASP_HUMAN	K	486	ENSP00000365891:E486K	ENSP00000365891:E486K	E	+	1	0	WAS	48434444	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.925000	0.70062	2.063000	0.61619	0.597000	0.82753	GAA		PASS	0.582	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		18	61	18	61	---	---	---	---
GRIPAP1	56850	broad.mit.edu	37	X	48837632	48837632	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:48837632C>T	ENST00000376441.1	-	21	1959	c.1925G>A	c.(1924-1926)cGc>cAc	p.R642H	GRIPAP1_ENST00000376425.3_Missense_Mutation_p.R611H|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.R597H|GRIPAP1_ENST00000376423.4_Missense_Mutation_p.R563H|GRIPAP1_ENST00000473581.1_5'UTR	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	642						blood microparticle (GO:0072562)|endosome (GO:0005768)		p.R285H(1)|p.R642H(1)|p.R563H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CTCACCTGAGCGGCTCTTGCT	0.612																																						uc004dly.1																			3	Substitution - Missense(3)		lung(3)	breast(2)|kidney(1)	3						c.(1924-1926)CGC>CAC		GRIP1 associated protein 1 isoform 1							62.0	42.0	49.0					X																	48837632		2203	4300	6503	SO:0001583	missense	56850					early endosome		g.chrX:48837632C>T	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.1925G>A	X.37:g.48837632C>T	ENSP00000365624:p.Arg642His					GRIPAP1_uc004dlz.2_Missense_Mutation_p.R532H|GRIPAP1_uc004dma.2_Missense_Mutation_p.R563H	p.R642H	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN			21	1960	-			642					A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	c.1925G>A	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	c	16.76	3.212792	0.58452	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	T	0.52754	0.65	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.60011	0.2236	L	0.39397	1.21	0.44771	D	0.997775	B;D;D	0.89917	0.019;1.0;1.0	B;D;D	0.87578	0.01;0.998;0.998	T	0.61544	-0.7041	10	0.54805	T	0.06	-2.1577	14.611	0.68517	0.0:1.0:0.0:0.0	.	563;532;642	Q4V328-2;Q4V328-3;Q4V328	.;.;GRAP1_HUMAN	H	611;597;642;611;563	ENSP00000365608:R611H	ENSP00000365606:R563H	R	-	2	0	GRIPAP1	48722576	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.152000	0.64882	2.146000	0.66826	0.553000	0.69018	CGC		PASS	0.612	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		10	23	10	23	---	---	---	---
TFE3	7030	broad.mit.edu	37	X	48891648	48891649	+	Splice_Site	DNP	CC	CC	AT			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:48891648_48891649CC>AT	ENST00000315869.7	-	6	1262_1263	c.1003_1004GG>AT	c.(1003-1005)GGg>ATg	p.G335M	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	335					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.?(4)|p.E335K(2)	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						CTATCACCTACCAGAGATCTCC	0.559			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	uc004dmb.3				Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	SFPQ|ASPSCR1|PRCC|NONO|CLTC		papillary renal|alveolar soft part sarcoma|renal	ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	6	Unknown(4)|Substitution - Missense(2)		lung(6)	soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						c.e6+1|c.(1003-1005)GAG>AAG		transcription factor E3																																				SO:0001630	splice_region_variant	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48891648C>A|g.chrX:48891649C>T	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1003_1004delinsAT	X.37:g.48891648_48891649delinsAT						TFE3_uc004dmc.3_Splice_Site_p.E230_splice|TFE3_uc004dme.1_Splice_Site|TFE3_uc004dmc.3_Missense_Mutation_p.E230K|TFE3_uc004dme.1_RNA	p.E335_splice|p.E335K	NM_006521	NP_006512	P19532	TFE3_HUMAN			6	1241	-			|335					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Splice_Site|Missense_Mutation	SNP	ENST00000315869.7	37	c.1003_splice|c.1003G>A	CCDS14315.3																																																																																				PASS	0.559	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521	Missense_Mutation	16	33|35	16	33	---	---	---	---
PLP2	5355	broad.mit.edu	37	X	49029810	49029810	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:49029810C>A	ENST00000376327.5	+	3	400	c.325C>A	c.(325-327)Cac>Aac	p.H109N	PLP2_ENST00000376322.3_Missense_Mutation_p.H109N	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	109	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine binding (GO:0019956)|ion transmembrane transporter activity (GO:0015075)	p.H109N(1)		endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						GAGAGGAAACCACTCCAAAAT	0.532																																						uc004dmx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(325-327)CAC>AAC		proteolipid protein 2 (colonic							110.0	87.0	94.0					X																	49029810		2203	4300	6503	SO:0001583	missense	5355				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity	g.chrX:49029810C>A	L09604	CCDS14319.1	Xp11.23	2008-08-01			ENSG00000102007	ENSG00000102007			9087	protein-coding gene	gene with protein product	"""A4 differentiation-dependent protein"""	300112				8470895, 7622043	Standard	NM_002668		Approved	A4, A4-LSB, MGC126187	uc004dmx.3	Q04941	OTTHUMG00000021513	ENST00000376327.5:c.325C>A	X.37:g.49029810C>A	ENSP00000365505:p.His109Asn						p.H109N	NM_002668	NP_002659	Q04941	PLP2_HUMAN			3	400	+			109			MARVEL.		A6NDT7|Q32MM8	Missense_Mutation	SNP	ENST00000376327.5	37	c.325C>A	CCDS14319.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.576091	0.45902	.	.	ENSG00000102007	ENST00000376322;ENST00000376327	T;T	0.27720	1.65;1.85	5.53	-11.1	0.00147	Marvel (1);MARVEL-like domain (1);	0.987641	0.08232	N	0.977505	T	0.15176	0.0366	L	0.38531	1.155	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.09907	-1.0653	10	0.18276	T	0.48	4.6013	6.529	0.22316	0.4917:0.1051:0.3364:0.0668	.	109	Q04941	PLP2_HUMAN	N	109	ENSP00000365500:H109N;ENSP00000365505:H109N	ENSP00000365500:H109N	H	+	1	0	PLP2	48916754	0.000000	0.05858	0.000000	0.03702	0.887000	0.51463	-2.660000	0.00851	-2.016000	0.00945	0.594000	0.82650	CAC		PASS	0.532	PLP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056540.1	NM_002668		39	64	39	64	---	---	---	---
KDM5C	8242	broad.mit.edu	37	X	53250047	53250047	+	Silent	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:53250047G>T	ENST00000375401.3	-	2	734	c.202C>A	c.(202-204)Cga>Aga	p.R68R	KDM5C_ENST00000404049.3_Silent_p.R68R|KDM5C_ENST00000375383.3_Silent_p.R68R|KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000375379.3_Silent_p.R68R	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	68					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.R68R(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CTCTGGATTCGGGGGGTAAAC	0.507			"""N, F, S"""		clear cell renal carcinoma																																	uc004drz.2				Rec	yes		X	Xp11.22-p11.21	8242	N|F|S	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		1	Substitution - coding silent(1)		lung(1)	kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						c.(202-204)CGA>AGA		jumonji, AT rich interactive domain 1C isoform							93.0	80.0	84.0					X																	53250047		2203	4300	6503	SO:0001819	synonymous_variant	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53250047G>T	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.202C>A	X.37:g.53250047G>T						KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Intron|KDM5C_uc004dsa.2_Silent_p.R68R	p.R68R	NM_004187	NP_004178	P41229	KDM5C_HUMAN			2	735	-			68					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Silent	SNP	ENST00000375401.3	37	c.202C>A	CCDS14351.1																																																																																				PASS	0.507	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		3	65	3	65	---	---	---	---
TRO	7216	broad.mit.edu	37	X	54956998	54956998	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:54956998G>T	ENST00000173898.7	+	12	3953	c.3841G>T	c.(3841-3843)Ggt>Tgt	p.G1281C	TRO_ENST00000375041.2_Missense_Mutation_p.G884C|TRO_ENST00000420798.2_Missense_Mutation_p.G812C|TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1281	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G1281C(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TGGCTTTGGTGGTGGACTGGT	0.602																																						uc004dtq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3841-3843)GGT>TGT		trophinin isoform 5							77.0	74.0	75.0					X																	54956998		2143	4242	6385	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54956998G>T	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.3841G>T	X.37:g.54956998G>T	ENSP00000173898:p.Gly1281Cys					TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.G812C|TRO_uc004dtw.2_Missense_Mutation_p.G884C|TRO_uc004dtx.2_Missense_Mutation_p.G664C	p.G1281C	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			12	3948	+			1281			62 X 10 AA approximate tandem repeats.|48.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.3841G>T	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893499	0.52121	.	.	ENSG00000067445	ENST00000173898;ENST00000420798;ENST00000375041	T;T;T	0.06449	4.01;3.3;3.65	3.61	-0.835	0.10775	.	.	.	.	.	T	0.11495	0.0280	L	0.32530	0.975	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.23619	-1.0183	9	0.87932	D	0	.	3.8417	0.08917	0.3482:0.0:0.4807:0.1712	.	884;1281	B1AKE9;Q12816	.;TROP_HUMAN	C	1281;812;884	ENSP00000173898:G1281C;ENSP00000405126:G812C;ENSP00000364181:G884C	ENSP00000173898:G1281C	G	+	1	0	TRO	54973723	0.000000	0.05858	0.020000	0.16555	0.582000	0.36321	-2.060000	0.01392	-0.096000	0.12329	0.479000	0.44913	GGT		PASS	0.602	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		41	68	41	68	---	---	---	---
FAM104B	90736	broad.mit.edu	37	X	55172681	55172681	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:55172681G>T	ENST00000358460.4	-	3	337	c.184C>A	c.(184-186)Cca>Aca	p.P62T	FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Missense_Mutation_p.P61T|FAM104B_ENST00000332132.4_Missense_Mutation_p.P63T|FAM104B_ENST00000425133.2_Missense_Mutation_p.P63T|FAM104B_ENST00000477847.2_Missense_Mutation_p.P59T|FAM104B_ENST00000478918.1_5'Flank			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	62								p.P63T(2)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						TTGCCTTCTGGTCCACTTGCT	0.443																																						uc004duh.1																			2	Substitution - Missense(2)		lung(2)		0						c.(184-186)CCA>ACA		hypothetical protein LOC90736							138.0	111.0	120.0					X																	55172681		2203	4300	6503	SO:0001583	missense	90736							g.chrX:55172681G>T	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"""chromosome X open reading frame 44"""	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.184C>A	X.37:g.55172681G>T	ENSP00000364101:p.Pro62Thr					FAM104B_uc004dug.1_Missense_Mutation_p.P63T|FAM104B_uc004dui.3_Missense_Mutation_p.P63T	p.P62T	NM_138362	NP_612371	Q5XKR9	F104B_HUMAN			3	204	-			62					A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Missense_Mutation	SNP	ENST00000358460.4	37	c.184C>A	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	g	12.96	2.093337	0.36952	.	.	ENSG00000182518	ENST00000358460;ENST00000332132;ENST00000425133;ENST00000477847;ENST00000489298	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	1.6	0.721	0.18219	.	0.482281	0.17242	U	0.181519	T	0.53190	0.1781	L	0.43923	1.385	0.09310	N	1	D;B;B	0.76494	0.999;0.149;0.149	D;B;B	0.76575	0.988;0.086;0.018	T	0.37820	-0.9689	10	0.87932	D	0	-2.8313	5.413	0.16358	0.0:0.3543:0.6457:0.0	.	63;62;63	Q5XKR9-3;Q5XKR9;Q5XKR9-2	.;F104B_HUMAN;.	T	62;63;63;59;61	ENSP00000364101:P62T;ENSP00000333394:P63T;ENSP00000397188:P63T;ENSP00000421161:P59T;ENSP00000423164:P61T	ENSP00000333394:P63T	P	-	1	0	FAM104B	55189406	0.101000	0.21875	0.031000	0.17742	0.322000	0.28314	0.494000	0.22467	0.168000	0.19655	-0.412000	0.06146	CCA		PASS	0.443	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056851.1	NM_138362		60	105	60	105	---	---	---	---
ARHGEF9	23229	broad.mit.edu	37	X	62917068	62917068	+	Silent	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:62917068C>A	ENST00000253401.6	-	4	1298	c.498G>T	c.(496-498)ctG>ctT	p.L166L	ARHGEF9_ENST00000374872.1_Silent_p.L145L|ARHGEF9_ENST00000437457.2_Silent_p.L113L|ARHGEF9_ENST00000374878.1_Silent_p.L164L|ARHGEF9_ENST00000374870.4_Silent_p.L64L|ARHGEF9_ENST00000495564.1_5'UTR	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	166	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L164L(1)|p.L166L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						ACTGTTTCTCCAGGTCTCTCA	0.468																																						uc004dvl.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8						c.(496-498)CTG>CTT		Cdc42 guanine exchange factor 9							130.0	96.0	108.0					X																	62917068		2203	4300	6503	SO:0001819	synonymous_variant	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62917068C>A	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.498G>T	X.37:g.62917068C>A						ARHGEF9_uc004dvj.1_Silent_p.L55L|ARHGEF9_uc004dvk.1_Silent_p.L28L|ARHGEF9_uc011mos.1_Silent_p.L145L|ARHGEF9_uc004dvm.1_Silent_p.L145L|ARHGEF9_uc011mot.1_Silent_p.L113L|ARHGEF9_uc004dvn.2_Silent_p.L173L	p.L166L	NM_015185	NP_056000	O43307	ARHG9_HUMAN			4	1337	-			166			DH.		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Silent	SNP	ENST00000253401.6	37	c.498G>T	CCDS35315.1																																																																																				PASS	0.468	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			28	38	28	38	---	---	---	---
ZC3H12B	340554	broad.mit.edu	37	X	64723017	64723017	+	Silent	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:64723017G>A	ENST00000338957.4	+	5	2506	c.2439G>A	c.(2437-2439)gaG>gaA	p.E813E	ZC3H12B_ENST00000423889.3_Silent_p.E802E	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	813							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.E663E(1)|p.E749E(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGTGATGGAGAAGAATCCCC	0.448																																						uc010nko.2																			2	Substitution - coding silent(2)		lung(2)	lung(1)|kidney(1)|pancreas(1)	3						c.(2404-2406)GAG>GAA		zinc finger CCCH-type containing 12B							55.0	51.0	52.0					X																	64723017		1917	4138	6055	SO:0001819	synonymous_variant	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64723017G>A	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.2439G>A	X.37:g.64723017G>A							p.E802E	NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN			5	2415	+			802					B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP	ENST00000338957.4	37	c.2406G>A	CCDS48131.2																																																																																				PASS	0.448	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		19	45	19	45	---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65417678	65417678	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:65417678G>A	ENST00000343002.2	+	9	2319	c.1655G>A	c.(1654-1656)gGc>gAc	p.G552D	HEPH_ENST00000336279.5_Missense_Mutation_p.G285D|HEPH_ENST00000441993.2_Missense_Mutation_p.G555D|HEPH_ENST00000374727.3_Missense_Mutation_p.G555D|HEPH_ENST00000519389.1_Missense_Mutation_p.G606D|HEPH_ENST00000419594.1_Intron			Q9BQS7	HEPH_HUMAN	hephaestin	552	Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.G552D(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ACAAATTCTGGCCTGGTGGGC	0.577																																						uc011moz.1																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(4)	9						c.(1663-1665)GGC>GAC		hephaestin isoform a							58.0	45.0	49.0					X																	65417678		2203	4299	6502	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65417678G>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1655G>A	X.37:g.65417678G>A	ENSP00000343939:p.Gly552Asp					HEPH_uc004dwn.2_Missense_Mutation_p.G555D|HEPH_uc004dwo.2_Missense_Mutation_p.G285D|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_Missense_Mutation_p.G555D	p.G555D	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			10	1724	+			552			Extracellular (Potential).|Plastocyanin-like 3.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.1664G>A		.	.	.	.	.	.	.	.	.	.	G	23.3	4.396663	0.83011	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000343002;ENST00000425114	D;D;D;D;D;D	0.99962	-9.47;-9.47;-9.47;-9.47;-9.47;-9.47	5.62	5.62	0.85841	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99971	0.9990	H	0.95917	3.74	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96721	0.9532	10	0.87932	D	0	.	17.1383	0.86745	0.0:0.0:1.0:0.0	.	606;552	E9PHN8;Q9BQS7	.;HEPH_HUMAN	D	606;555;285;555;552;509	ENSP00000430620:G606D;ENSP00000363859:G555D;ENSP00000337418:G285D;ENSP00000411687:G555D;ENSP00000343939:G552D;ENSP00000398078:G509D	ENSP00000337418:G285D	G	+	2	0	HEPH	65334403	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	8.939000	0.92951	2.370000	0.80446	0.544000	0.68410	GGC		PASS	0.577	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		18	29	18	29	---	---	---	---
SLC7A3	84889	broad.mit.edu	37	X	70145715	70145715	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:70145715C>G	ENST00000374299.3	-	12	1952	c.1808G>C	c.(1807-1809)aGa>aCa	p.R603T	SLC7A3_ENST00000298085.4_Missense_Mutation_p.R603T			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	603					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)	p.R603T(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGTTTTGGCTCTAGACTTGCG	0.498																																						uc004dyn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(1807-1809)AGA>ACA		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						249.0	192.0	211.0					X																	70145715		2203	4300	6503	SO:0001583	missense	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70145715C>G	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1808G>C	X.37:g.70145715C>G	ENSP00000363417:p.Arg603Thr					SLC7A3_uc004dyo.2_Missense_Mutation_p.R603T	p.R603T	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN			12	1966	-	Renal(35;0.156)		603			Cytoplasmic (Potential).		D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	c.1808G>C	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	C	5.136	0.210753	0.09757	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.87412	-2.25;-2.25	4.43	3.49	0.39957	.	0.287470	0.36303	N	0.002668	T	0.69531	0.3121	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.51309	-0.8722	10	0.07990	T	0.79	.	10.226	0.43225	0.1972:0.8028:0.0:0.0	.	603	Q8WY07	CTR3_HUMAN	T	603	ENSP00000363417:R603T;ENSP00000298085:R603T	ENSP00000298085:R603T	R	-	2	0	SLC7A3	70062440	0.002000	0.14202	0.025000	0.17156	0.107000	0.19398	1.502000	0.35704	2.192000	0.70111	0.436000	0.28706	AGA		PASS	0.498	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		44	83	44	83	---	---	---	---
ACRC	93953	broad.mit.edu	37	X	70823555	70823555	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:70823555G>A	ENST00000373695.1	+	7	965	c.428G>A	c.(427-429)aGt>aAt	p.S143N	ACRC_ENST00000373696.3_Missense_Mutation_p.S143N			Q96QF7	ACRC_HUMAN	acidic repeat containing	143	Asp/Ser-rich.					nucleus (GO:0005634)		p.S143N(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GACGACAACAGTGATGATTCA	0.473																																						uc004eae.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(427-429)AGT>AAT		ACRC protein							216.0	190.0	199.0					X																	70823555		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70823555G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.428G>A	X.37:g.70823555G>A	ENSP00000362799:p.Ser143Asn					BCYRN1_uc011mpt.1_Intron	p.S143N	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			8	929	+	Renal(35;0.156)		143			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.428G>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	G	7.403	0.633154	0.14322	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.42513	0.97;0.97	0.674	0.674	0.17946	.	.	.	.	.	T	0.20129	0.0484	N	0.14661	0.345	0.09310	N	1	P	0.47604	0.898	B	0.34824	0.19	T	0.12016	-1.0564	8	0.87932	D	0	.	.	.	.	.	143	Q96QF7	ACRC_HUMAN	N	143	ENSP00000362800:S143N;ENSP00000362799:S143N	ENSP00000362799:S143N	S	+	2	0	ACRC	70740280	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.118000	0.15605	0.569000	0.29329	0.284000	0.19432	AGT		PASS	0.473	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			5	349	5	349	---	---	---	---
ZDHHC15	158866	broad.mit.edu	37	X	74742797	74742798	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:74742797_74742798GG>TT	ENST00000373367.3	-	1	292_293	c.62_63CC>AA	c.(61-63)tCC>tAA	p.S21*	ZDHHC15_ENST00000373361.3_Nonsense_Mutation_p.S21*|ZDHHC15_ENST00000482827.1_5'UTR|ZDHHC15_ENST00000541184.1_Nonsense_Mutation_p.S21*	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	21					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.S21Y(1)|p.S21*(1)|p.S21S(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						CTGGCACCCAGGACAGTACCCG	0.624																																						uc004ecg.2																			3	Substitution - Nonsense(1)|Substitution - Missense(1)|Substitution - coding silent(1)		lung(3)	ovary(2)	2						c.(61-63)TCC>TCA|c.(61-63)TCC>TAC		zinc finger, DHHC-type containing 15 isoform 1																																				SO:0001587	stop_gained	158866					integral to membrane	zinc ion binding	g.chrX:74742797G>T|g.chrX:74742798G>T	AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"""Zinc fingers, DHHC-type"""	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.62_63delinsTT	X.37:g.74742797_74742798delinsTT	ENSP00000362465:p.Ser21*					ZDHHC15_uc004ech.2_Silent_p.S21S|ZDHHC15_uc011mqo.1_RNA|ZDHHC15_uc004eci.2_Silent_p.S21S|ZDHHC15_uc004ech.2_Missense_Mutation_p.S21Y|ZDHHC15_uc011mqo.1_RNA|ZDHHC15_uc004eci.2_Missense_Mutation_p.S21Y	p.S21S|p.S21Y	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN			1	541|540	-			21			Helical; (Potential).		B3KVG7|Q3SY30|Q6UWH3	Silent|Missense_Mutation	SNP	ENST00000373367.3	37	c.63C>A|c.62C>A	CCDS14430.1																																																																																				PASS	0.624	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969		23|22	48	22	48	---	---	---	---
TGIF2LX	90316	broad.mit.edu	37	X	89177357	89177358	+	Missense_Mutation	DNP	TT	TT	AA			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:89177357_89177358TT>AA	ENST00000561129.2	+	1	403_404	c.273_274TT>AA	c.(271-276)aaTTtg>aaAAtg	p.91_92NL>KM	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.91_92NL>KM			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	91					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.N91_L92>KM(1)|p.L92M(1)|p.N91K(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						AGAAGACCAATTTGTCTTTGTT	0.47																																						uc004efe.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(1)|skin(1)	2						c.(271-273)AAT>AAA|c.(274-276)TTG>ATG		TGFB-induced factor homeobox 2-like, X-linked																																				SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177357T>A|g.chrX:89177358T>A	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	Exception_encountered	X.37:g.89177357_89177358delinsAA	ENSP00000453704:p.N91_L92delinsKM						p.N91K|p.L92M	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	322|323	+			91|92			Homeobox; TALE-type.		Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.273T>A|c.274T>A	CCDS14459.1																																																																																				PASS	0.470	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		19|18	282|283	18	282	---	---	---	---
TGIF2LX	90316	broad.mit.edu	37	X	89177376	89177376	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:89177376T>A	ENST00000561129.2	+	1	422	c.292T>A	c.(292-294)Tct>Act	p.S98T	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.S98T			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	98					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S98T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GTTGCAGATTTCTAACTGGTT	0.473																																						uc004efe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(292-294)TCT>ACT		TGFB-induced factor homeobox 2-like, X-linked							231.0	200.0	210.0					X																	89177376		2203	4299	6502	SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177376T>A	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.292T>A	X.37:g.89177376T>A	ENSP00000453704:p.Ser98Thr						p.S98T	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	341	+			98			Homeobox; TALE-type.		Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.292T>A	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.697951	0.30142	.	.	ENSG00000153779	ENST00000283891	D	0.91407	-2.84	3.08	1.83	0.25207	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.273100	0.19791	N	0.105977	D	0.84795	0.5551	L	0.53617	1.68	0.29541	N	0.852044	P	0.48089	0.905	B	0.39660	0.306	T	0.78743	-0.2085	9	.	.	.	-31.6867	6.2001	0.20571	0.2272:0.0:0.0:0.7728	.	98	Q8IUE1	TF2LX_HUMAN	T	98	ENSP00000355119:S98T	.	S	+	1	0	TGIF2LX	89064032	0.939000	0.31865	0.004000	0.12327	0.126000	0.20510	2.986000	0.49370	0.388000	0.25054	0.417000	0.27973	TCT		PASS	0.473	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		111	209	111	209	---	---	---	---
NRK	203447	broad.mit.edu	37	X	105153117	105153117	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:105153117C>G	ENST00000243300.9	+	13	1787	c.1484C>G	c.(1483-1485)tCc>tGc	p.S495C	NRK_ENST00000428173.2_Missense_Mutation_p.S496C	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	495	Gln-rich.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.S496C(1)|p.S495C(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CAGGTACAGTCCCAGGTATCC	0.542										HNSCC(51;0.14)																												uc004emd.2																			2	Substitution - Missense(2)		lung(2)	breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(1483-1485)TCC>TGC		Nik related kinase							53.0	54.0	54.0					X																	105153117		2028	4166	6194	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105153117C>G	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1484C>G	X.37:g.105153117C>G	ENSP00000434830:p.Ser495Cys	HNSCC(51;0.14)				NRK_uc010npc.1_Missense_Mutation_p.S163C	p.S495C	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			13	1787	+			495			Gln-rich.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.1484C>G		.	.	.	.	.	.	.	.	.	.	C	2.379	-0.342483	0.05243	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.23950	1.88;1.88	4.38	1.58	0.23477	.	0.902632	0.09392	N	0.808459	T	0.19248	0.0462	N	0.22421	0.69	0.09310	N	1	B;B	0.31351	0.32;0.07	B;B	0.38056	0.264;0.085	T	0.35822	-0.9773	10	0.51188	T	0.08	.	5.5039	0.16844	0.0:0.6367:0.1634:0.1999	.	163;495	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	C	495;496	ENSP00000434830:S495C;ENSP00000438378:S496C	ENSP00000434830:S495C	S	+	2	0	NRK	105039773	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.510000	0.22723	0.202000	0.20498	0.600000	0.82982	TCC		PASS	0.542	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		32	53	32	53	---	---	---	---
NRK	203447	broad.mit.edu	37	X	105178435	105178435	+	Splice_Site	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:105178435C>A	ENST00000243300.9	+	20	3801	c.3498C>A	c.(3496-3498)atC>atA	p.I1166I	NRK_ENST00000428173.2_Splice_Site_p.I1167I	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1166					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.I1167I(1)|p.I1166I(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CCAGTGCCATCTGTGAGTGTG	0.368										HNSCC(51;0.14)																												uc004emd.2																			2	Substitution - coding silent(2)		lung(2)	breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(3496-3498)ATC>ATA		Nik related kinase							146.0	130.0	135.0					X																	105178435		1966	4168	6134	SO:0001630	splice_region_variant	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105178435C>A	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3499+1C>A	X.37:g.105178435C>A		HNSCC(51;0.14)				NRK_uc010npc.1_Silent_p.I834I	p.I1166I	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			20	3801	+			1166					Q32ND6|Q5H9K2|Q6ZMP2	Silent	SNP	ENST00000243300.9	37	c.3498C>A																																																																																					PASS	0.368	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	Silent	4	138	4	138	---	---	---	---
COL4A6	1288	broad.mit.edu	37	X	107402738	107402738	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:107402738C>A	ENST00000372216.4	-	44	4869	c.4769G>T	c.(4768-4770)tGc>tTc	p.C1590F	COL4A6_ENST00000334504.7_Missense_Mutation_p.C1589F|COL4A6_ENST00000538570.1_Missense_Mutation_p.C1532F|COL4A6_ENST00000545689.1_Missense_Mutation_p.C1565F|COL4A6_ENST00000418180.1_Missense_Mutation_p.C124F|COL4A6_ENST00000394872.2_Missense_Mutation_p.C1590F	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1590	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.C1589F(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GCCCAGGGGGCACTGCGGGAT	0.612									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	uc004enw.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(4768-4770)TGC>TTC		type IV alpha 6 collagen isoform A precursor							65.0	57.0	60.0					X																	107402738		2203	4300	6503	SO:0001583	missense	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107402738C>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4769G>T	X.37:g.107402738C>A	ENSP00000361290:p.Cys1590Phe					COL4A6_uc004env.3_Missense_Mutation_p.C1589F|COL4A6_uc011msn.1_Missense_Mutation_p.C1565F|COL4A6_uc010npk.2_Missense_Mutation_p.C1532F|COL4A6_uc011msm.1_Missense_Mutation_p.C124F|COL4A6_uc010npj.2_Missense_Mutation_p.C69F	p.C1590F	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			44	4872	-			1590			Collagen IV NC1.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.4769G>T	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690691	0.48097	.	.	ENSG00000197565	ENST00000418180;ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5;-4.5;-4.5	4.88	4.01	0.46588	C-type lectin fold (1);	0.000000	0.43919	D	0.000511	D	0.99174	0.9714	H	0.98048	4.135	0.53688	D	0.999972	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.994;0.999;1.0;0.998	D	0.98818	1.0746	10	0.87932	D	0	.	13.0459	0.58925	0.0:0.9181:0.0:0.0819	.	1565;124;1532;1590;1589	F5H851;B4DZ39;F5H3Q5;Q14031;Q14031-2	.;.;.;CO4A6_HUMAN;.	F	124;1590;1589;1590;1577;1565;1532	ENSP00000406002:C124F;ENSP00000361290:C1590F;ENSP00000334733:C1589F;ENSP00000378340:C1590F;ENSP00000443707:C1565F;ENSP00000445236:C1532F	ENSP00000334733:C1589F	C	-	2	0	COL4A6	107289394	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.740000	0.84986	1.133000	0.42147	0.529000	0.55759	TGC		PASS	0.612	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			28	65	28	65	---	---	---	---
COL4A6	1288	broad.mit.edu	37	X	107431174	107431174	+	Silent	SNP	T	T	C			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:107431174T>C	ENST00000372216.4	-	22	1774	c.1674A>G	c.(1672-1674)ggA>ggG	p.G558G	COL4A6_ENST00000334504.7_Silent_p.G557G|COL4A6_ENST00000538570.1_Silent_p.G557G|COL4A6_ENST00000545689.1_Silent_p.G557G|COL4A6_ENST00000394872.2_Silent_p.G558G	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	558	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.G557G(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CACCCCGATCTCCTGGCATTC	0.537									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	uc004enw.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(1672-1674)GGA>GGG		type IV alpha 6 collagen isoform A precursor							111.0	106.0	108.0					X																	107431174		2203	4300	6503	SO:0001819	synonymous_variant	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107431174T>C	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1674A>G	X.37:g.107431174T>C						COL4A6_uc004env.3_Silent_p.G557G|COL4A6_uc011msn.1_Silent_p.G557G|COL4A6_uc010npk.2_Silent_p.G557G	p.G558G	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			22	1777	-			558			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	c.1674A>G	CCDS14541.1																																																																																				PASS	0.537	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			77	182	77	182	---	---	---	---
ACSL4	2182	broad.mit.edu	37	X	108921307	108921307	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:108921307C>A	ENST00000469796.2	-	8	1359	c.963G>T	c.(961-963)ttG>ttT	p.L321F	ACSL4_ENST00000348502.6_Missense_Mutation_p.L280F|ACSL4_ENST00000340800.2_Missense_Mutation_p.L321F			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	321					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.L321F(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	GCACATGAGCCAAAGGCAAGT	0.388																																					Pancreas(188;358 2127 38547 41466 45492)	uc004eoi.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(961-963)TTG>TTT		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						117.0	108.0	111.0					X																	108921307		2203	4300	6503	SO:0001583	missense	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108921307C>A	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.963G>T	X.37:g.108921307C>A	ENSP00000419171:p.Leu321Phe					ACSL4_uc004eoj.2_Missense_Mutation_p.L280F|ACSL4_uc004eok.2_Missense_Mutation_p.L280F|ACSL4_uc010npp.1_Missense_Mutation_p.L321F	p.L321F	NM_022977	NP_075266	O60488	ACSL4_HUMAN			9	1468	-			321			Cytoplasmic (Potential).		D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	ENST00000469796.2	37	c.963G>T	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852621	0.71719	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.51325	0.71;0.71;0.71	5.68	1.92	0.25849	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.74238	0.3690	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76919	-0.2781	10	0.87932	D	0	-8.7583	10.1078	0.42544	0.0:0.7167:0.0:0.2833	.	321	O60488	ACSL4_HUMAN	F	280;321;321	ENSP00000262835:L280F;ENSP00000419171:L321F;ENSP00000339787:L321F	ENSP00000339787:L321F	L	-	3	2	ACSL4	108807963	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.016000	0.40971	0.210000	0.20664	0.597000	0.82753	TTG		PASS	0.388	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		36	83	36	83	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123787591	123787591	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:123787591A>T	ENST00000371130.3	-	7	1274	c.1211T>A	c.(1210-1212)aTt>aAt	p.I404N	TENM1_ENST00000422452.2_Missense_Mutation_p.I404N	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	404					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.I406N(1)									CTGTGCACCAATGTCAACTTC	0.388																																						uc004euj.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(1210-1212)ATT>AAT		odz, odd Oz/ten-m homolog 1 isoform 3							135.0	115.0	121.0					X																	123787591		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123787591A>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1211T>A	X.37:g.123787591A>T	ENSP00000360171:p.Ile404Asn					ODZ1_uc011muj.1_Missense_Mutation_p.I403N|ODZ1_uc010nqy.2_Missense_Mutation_p.I404N	p.I404N	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			7	1275	-			404			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.1211T>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.387283	0.82902	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.30714	1.52;1.52	5.6	5.6	0.85130	.	0.118752	0.56097	D	0.000025	T	0.45216	0.1331	L	0.50333	1.59	0.58432	D	0.999999	D;D;D	0.69078	0.996;0.996;0.997	P;P;P	0.57679	0.726;0.823;0.825	T	0.43877	-0.9364	10	0.87932	D	0	.	14.8139	0.70017	1.0:0.0:0.0:0.0	.	403;404;404	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	N	404	ENSP00000360171:I404N;ENSP00000403954:I404N	ENSP00000360171:I404N	I	-	2	0	ODZ1	123615272	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.108000	0.94275	1.880000	0.54463	0.430000	0.28490	ATT		PASS	0.388	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		69	155	69	155	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123839017	123839017	+	Silent	SNP	C	C	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:123839017C>A	ENST00000371130.3	-	5	924	c.861G>T	c.(859-861)gtG>gtT	p.V287V	TENM1_ENST00000422452.2_Silent_p.V287V	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	287	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.V289V(1)									GGGGCGAGTACACGGTATTGG	0.507																																						uc004euj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(859-861)GTG>GTT		odz, odd Oz/ten-m homolog 1 isoform 3							133.0	121.0	125.0					X																	123839017		2203	4300	6503	SO:0001819	synonymous_variant	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123839017C>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.861G>T	X.37:g.123839017C>A						ODZ1_uc011muj.1_Silent_p.V287V|ODZ1_uc010nqy.2_Silent_p.V287V	p.V287V	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			5	925	-			287			Teneurin N-terminal.|Cytoplasmic (Potential).		B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.861G>T	CCDS14609.1																																																																																				PASS	0.507	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		67	139	67	139	---	---	---	---
GPC3	2719	broad.mit.edu	37	X	132888123	132888123	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:132888123G>T	ENST00000370818.3	-	3	863	c.418C>A	c.(418-420)Caa>Aaa	p.Q140K	GPC3_ENST00000543339.1_Missense_Mutation_p.Q86K|GPC3_ENST00000394299.2_Missense_Mutation_p.Q140K	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	140					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)	p.Q140K(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TCAAAAGCTTGTGGAGTCAGG	0.388			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													uc004exe.1			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	T|D|Mis|N|F|S	glypican 3			O		Wilms tumour			1	Substitution - Missense(1)		lung(1)	lung(2)|prostate(1)|breast(1)|skin(1)	5						c.(418-420)CAA>AAA		glypican 3 isoform 2 precursor							355.0	278.0	304.0					X																	132888123		2203	4300	6503	SO:0001583	missense	2719	Simpson-Golabi-Behmel_syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:132888123G>T	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.418C>A	X.37:g.132888123G>T	ENSP00000359854:p.Gln140Lys					GPC3_uc004exd.1_Missense_Mutation_p.Q12K|GPC3_uc010nrn.1_Missense_Mutation_p.Q140K|GPC3_uc011mvh.1_Missense_Mutation_p.Q124K|GPC3_uc010nro.1_Missense_Mutation_p.Q86K|GPC3_uc010nrp.1_Missense_Mutation_p.Q12K	p.Q140K	NM_004484	NP_004475	P51654	GPC3_HUMAN			3	608	-	Acute lymphoblastic leukemia(192;0.000127)		140					C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	c.418C>A	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	G	5.652	0.304918	0.10678	.	.	ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339	T;T;T	0.52295	0.67;0.67;0.67	5.48	4.56	0.56223	.	0.119039	0.56097	D	0.000022	T	0.35740	0.0942	L	0.31926	0.97	0.26757	N	0.970089	B;B;B;B	0.21821	0.061;0.01;0.03;0.061	B;B;B;B	0.22152	0.038;0.037;0.038;0.038	T	0.21449	-1.0245	10	0.40728	T	0.16	.	10.349	0.43922	0.0:0.0:0.6255:0.3745	.	124;86;140;140	B4DTD8;G3V1R0;C9JLE3;P51654	.;.;.;GPC3_HUMAN	K	140;140;86	ENSP00000359854:Q140K;ENSP00000377836:Q140K;ENSP00000444222:Q86K	ENSP00000359854:Q140K	Q	-	1	0	GPC3	132715789	0.985000	0.35326	0.999000	0.59377	0.998000	0.95712	1.868000	0.39509	2.285000	0.76669	0.594000	0.82650	CAA		PASS	0.388	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		82	161	82	161	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135474460	135474460	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:135474460C>T	ENST00000394143.1	+	17	8272	c.7981C>T	c.(7981-7983)Caa>Taa	p.Q2661*	GPR112_ENST00000412101.1_Nonsense_Mutation_p.Q2456*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.Q2456*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.Q2661*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.Q2414*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2661					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q2661*(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TATGTTCATTCAAAACTTAGC	0.403																																						uc004ezu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(7981-7983)CAA>TAA		G-protein coupled receptor 112							123.0	115.0	118.0					X																	135474460		2203	4300	6503	SO:0001587	stop_gained	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135474460C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7981C>T	X.37:g.135474460C>T	ENSP00000377699:p.Gln2661*					GPR112_uc010nsb.1_Nonsense_Mutation_p.Q2456*	p.Q2661*	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			17	8272	+	Acute lymphoblastic leukemia(192;0.000127)		2661			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Nonsense_Mutation	SNP	ENST00000394143.1	37	c.7981C>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	50	16.426094	0.99863	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	.	.	.	5.25	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	10.8744	0.46902	0.145:0.7177:0.1373:0.0	.	.	.	.	X	2661;2661;2456;2414;2456	.	ENSP00000287534:Q2414X	Q	+	1	0	GPR112	135302126	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	1.093000	0.30939	1.098000	0.41479	0.600000	0.82982	CAA		PASS	0.403	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			49	104	49	104	---	---	---	---
F9	2158	broad.mit.edu	37	X	138630608	138630608	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:138630608G>A	ENST00000218099.2	+	5	485	c.478G>A	c.(478-480)Gga>Aga	p.G160R	F9_ENST00000394090.2_Missense_Mutation_p.G122R	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	160	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.		G -> E (in HEMB; mild).		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.G160R(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	CTGTACTGAGGGATATCGACT	0.358																																						uc004fas.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3	GRCh37	CM030846|CM952071	F9	M		c.(478-480)GGA>AGA		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						158.0	135.0	142.0					X																	138630608		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138630608G>A	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.478G>A	X.37:g.138630608G>A	ENSP00000218099:p.Gly160Arg					F9_uc004fat.1_Missense_Mutation_p.G122R	p.G160R	NM_000133	NP_000124	P00740	FA9_HUMAN			5	507	+	Acute lymphoblastic leukemia(192;0.000127)		160		G -> E (in HEMB; mild).	EGF-like 2.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.478G>A	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474421	0.63737	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.98264	-4.83;-4.83	4.94	4.94	0.65067	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99302	0.9756	H	0.96691	3.865	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.98688	1.0695	9	.	.	.	.	14.8306	0.70146	0.0:0.0:1.0:0.0	.	122;160	Q5FBE1;P00740	.;FA9_HUMAN	R	160;122	ENSP00000218099:G160R;ENSP00000377650:G122R	.	G	+	1	0	F9	138458274	1.000000	0.71417	0.921000	0.36526	0.519000	0.34347	7.037000	0.76531	2.174000	0.68829	0.544000	0.68410	GGA		PASS	0.358	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			17	104	17	104	---	---	---	---
SLITRK4	139065	broad.mit.edu	37	X	142716937	142716937	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chrX:142716937G>T	ENST00000381779.4	-	2	2213	c.1988C>A	c.(1987-1989)tCc>tAc	p.S663Y	SLITRK4_ENST00000338017.4_Missense_Mutation_p.S663Y|SLITRK4_ENST00000356928.1_Missense_Mutation_p.S663Y	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	663						integral component of membrane (GO:0016021)		p.S663Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCTGCATGGAGCCACAGTC	0.458																																						uc004fbx.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(1987-1989)TCC>TAC		slit and trk like 4 protein precursor							122.0	124.0	124.0					X																	142716937		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142716937G>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1988C>A	X.37:g.142716937G>T	ENSP00000371198:p.Ser663Tyr					SLITRK4_uc004fby.2_Missense_Mutation_p.S663Y	p.S663Y	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	2364	-	Acute lymphoblastic leukemia(192;6.56e-05)		663			Cytoplasmic (Potential).		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.1988C>A	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101008	0.56183	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.60424	0.19;0.19;0.19	5.36	5.36	0.76844	.	0.071421	0.64402	U	0.000019	T	0.71247	0.3317	L	0.61218	1.895	0.80722	D	1	D	0.58268	0.982	P	0.59948	0.866	T	0.74899	-0.3507	10	0.87932	D	0	-6.925	16.5642	0.84574	0.0:0.0:1.0:0.0	.	663	Q8IW52	SLIK4_HUMAN	Y	663	ENSP00000371198:S663Y;ENSP00000349400:S663Y;ENSP00000336627:S663Y	ENSP00000336627:S663Y	S	-	2	0	SLITRK4	142544603	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.869000	0.99810	2.224000	0.72417	0.513000	0.50165	TCC		PASS	0.458	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		69	185	69	185	---	---	---	---
NEUROG1	4762	broad.mit.edu	37	5	134871202	134871202	+	Frame_Shift_Del	DEL	T	T	-			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr5:134871202delT	ENST00000314744.4	-	1	437	c.179delA	c.(178-180)gagfs	p.E60fs		NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	neurogenin 1	60					cell fate commitment (GO:0045165)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perikaryon (GO:0043204)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCCTGGAACCTCAGACGCCCG	0.751																																						uc003lax.2																			0					0						c.(178-180)GAGfs		neurogenin 1							4.0	6.0	5.0					5																	134871202		2011	4017	6028	SO:0001589	frameshift_variant	4762				positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity	g.chr5:134871202delT	U63842	CCDS4187.1	5q23-q31	2013-05-21			ENSG00000181965	ENSG00000181965		"""Basic helix-loop-helix proteins"""	7764	protein-coding gene	gene with protein product	"""neurogenic differentiation 3"""	601726		NEUROD3		9119405	Standard	NM_006161		Approved	AKA, Math4C, ngn1, bHLHa6	uc003lax.3	Q92886	OTTHUMG00000129138	ENST00000314744.4:c.179delA	5.37:g.134871202delT	ENSP00000317580:p.Glu60fs						p.E60fs	NM_006161	NP_006152	Q92886	NGN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	438	-			60					Q5U0Q9|Q96HE1	Frame_Shift_Del	DEL	ENST00000314744.4	37	c.179delA	CCDS4187.1																																																																																					0.751	NEUROG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251192.1	NM_006161		4	2	4	2	---	---	---	---
CNR1	1268	broad.mit.edu	37	6	88854114	88854123	+	Frame_Shift_Del	DEL	ACGCATACAC	ACGCATACAC	-	rs35057475		TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr6:88854114_88854123delACGCATACAC	ENST00000537554.1	-	2	4433_4442	c.871_880delGTGTATGCGT	c.(871-882)gtgtatgcgtacfs	p.VYAY291fs	CNR1_ENST00000549890.1_Frame_Shift_Del_p.VYAY291fs|CNR1_ENST00000535130.1_Frame_Shift_Del_p.VYAY291fs|CNR1_ENST00000468898.1_Frame_Shift_Del_p.VYAY258fs|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369501.2_Frame_Shift_Del_p.VYAY291fs|CNR1_ENST00000549716.1_Frame_Shift_Del_p.VYAY230fs|CNR1_ENST00000369499.2_Frame_Shift_Del_p.VYAY291fs|CNR1_ENST00000428600.2_Frame_Shift_Del_p.VYAY291fs	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	291					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ATATACATGTACGCATACACGATGAACAGA	0.505																																						uc011dzq.1																			0				skin(2)	2						c.(871-882)GTGTATGCGTACfs		cannabinoid receptor 1 isoform a	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)																																			SO:0001589	frameshift_variant	1268				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854114_88854123delACGCATACAC	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.871_880delGTGTATGCGT	6.37:g.88854114_88854123delACGCATACAC	ENSP00000441046:p.Val291fs					CNR1_uc010kbz.2_Frame_Shift_Del_p.V291fs|CNR1_uc011dzr.1_Frame_Shift_Del_p.V291fs|CNR1_uc011dzs.1_Frame_Shift_Del_p.V291fs|CNR1_uc003pmq.3_Frame_Shift_Del_p.V291fs|CNR1_uc011dzt.1_Frame_Shift_Del_p.V291fs|CNR1_uc010kca.2_Frame_Shift_Del_p.V258fs	p.V291fs	NM_001160260	NP_001153732	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4434_4443	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	291_294			Helical; Name=5; (Potential).		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Frame_Shift_Del	DEL	ENST00000537554.1	37	c.871_880delGTGTATGCGT	CCDS5015.1																																																																																					0.505	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			48	26	48	26	---	---	---	---
HGF	3082	broad.mit.edu	37	7	81340811	81340811	+	Frame_Shift_Del	DEL	A	A	-			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr7:81340811delA	ENST00000222390.5	-	12	1656	c.1430delT	c.(1429-1431)atafs	p.I477fs	HGF_ENST00000457544.2_Frame_Shift_Del_p.I472fs	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	477					activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TAAATTGACTATTGTAGGTGT	0.264																																						uc003uhl.2																			0				ovary(2)|central_nervous_system(2)	4						c.(1429-1431)ATAfs		hepatocyte growth factor isoform 1							25.0	27.0	26.0					7																	81340811		2181	4258	6439	SO:0001589	frameshift_variant	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81340811delA		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1430delT	7.37:g.81340811delA	ENSP00000222390:p.Ile477fs					HGF_uc003uhm.2_Frame_Shift_Del_p.I472fs	p.I477fs	NM_000601	NP_000592	P14210	HGF_HUMAN			12	1595	-			477					A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Frame_Shift_Del	DEL	ENST00000222390.5	37	c.1430delT	CCDS5597.1																																																																																					0.264	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		19	18	19	18	---	---	---	---
PTENP1	11191	broad.mit.edu	37	9	33676397	33676398	+	RNA	DEL	CT	CT	-			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr9:33676397_33676398delCT	ENST00000532280.1	-	0	1099_1100					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		TATTGCGCAACTCTGTAATTAG	0.366																																						uc003zth.3																			0					0						c.(148-153)AGAGTTfs		SubName: Full=Phosphatase and tensin homolog 2; Flags: Fragment;																																						11191							g.chr9:33676397_33676398delCT	AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33676399_33676400delCT							p.R50fs	NR_023917						1	1021_1022	-									Frame_Shift_Del	DEL	ENST00000532280.1	37	c.150_151delAG																																																																																						0.366	PTENP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395145.1	NR_023917		30	55	30	55	---	---	---	---
EEF1G	1937	broad.mit.edu	37	11	62334908	62334908	+	Frame_Shift_Del	DEL	G	G	-	rs1061093	byFrequency	TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr11:62334908delG	ENST00000329251.4	-	6	745	c.615delC	c.(613-615)ggcfs	p.G205fs	EEF1G_ENST00000378019.3_Frame_Shift_Del_p.G255fs|MIR3654_ENST00000496634.2_3'UTR	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	205	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTTTCACTTCGCCCAAGACAG	0.557																																						uc001ntm.1																			0					0						c.(613-615)GGCfs		eukaryotic translation elongation factor 1							44.0	42.0	43.0					11																	62334908		1940	4141	6081	SO:0001589	frameshift_variant	1937				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr11:62334908delG	X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.615delC	11.37:g.62334908delG	ENSP00000331901:p.Gly205fs					EEF1G_uc010rlw.1_Frame_Shift_Del_p.G255fs|EEF1G_uc001ntn.1_Frame_Shift_Del_p.G85fs	p.G205fs	NM_001404	NP_001395	P26641	EF1G_HUMAN			6	761	-			205			GST C-terminal.		B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Frame_Shift_Del	DEL	ENST00000329251.4	37	c.615delC	CCDS44626.1																																																																																					0.557	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395047.1	NM_001404		27	12	27	12	---	---	---	---
KRTAP5-10	387273	broad.mit.edu	37	11	71276657	71276658	+	In_Frame_Ins	INS	-	-	GGCTGTGGCTCCGGCTGTGGG	rs71049990|rs200855172	byFrequency	TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr11:71276657_71276658insGGCTGTGGCTCCGGCTGTGGG	ENST00000398531.1	+	1	49_50	c.24_25insGGCTGTGGCTCCGGCTGTGGG	c.(25-27)ggc>GGCTGTGGCTCCGGCTGTGGGggc	p.9_9G>GCGSGCGG	KRTAP5-10_ENST00000376536.4_In_Frame_Ins_p.9_9G>GCGSGCGG	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	9						keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTGCTCCGGAGGCTGTGGCTC	0.668														2222	0.44369	0.5129	0.5231	5008	,	,		8015	0.5258		0.3807	False		,,,				2504	0.274					uc001oqt.1																			0				skin(1)	1						c.(22-27)insGGCTGTGGCTCCGGCTGTGGG		keratin associated protein 5-10																																				SO:0001652	inframe_insertion	387273					keratin filament		g.chr11:71276657_71276658insGGCTGTGGCTCCGGCTGTGGG	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.25_45dupGGCTGTGGCTCCGGCTGTGGG	11.37:g.71276657_71276658insGGCTGTGGCTCCGGCTGTGGG	Exception_encountered						p.29_30insGCGSGCG	NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN			1	49_50	+			29_30					B9EHA4	In_Frame_Ins	INS	ENST00000398531.1	37	c.24_25insGGCTGTGGCTCCGGCTGTGGG	CCDS41684.1																																																																																					0.668	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			75	97	75	97	---	---	---	---
RB1	5925	broad.mit.edu	37	13	48934227	48934227	+	Frame_Shift_Del	DEL	A	A	-			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr13:48934227delA	ENST00000267163.4	+	7	820	c.682delA	c.(682-684)aaafs	p.K228fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	228					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTATTTTATTAAACTCTCACC	0.318		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		21	Whole gene deletion(15)|Unknown(6)	p.?(5)	bone(11)|breast(5)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CM030497	RB1	M		c.(682-684)AAAfs		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						92.0	92.0	92.0					13																	48934227		2203	4298	6501	SO:0001589	frameshift_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48934227delA	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.682delA	13.37:g.48934227delA	ENSP00000267163:p.Lys228fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010acs.1_RNA|RB1_uc010act.1_5'UTR	p.K228fs	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	7	848	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	228					A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.682delA	CCDS31973.1																																																																																					0.318	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			33	47	33	47	---	---	---	---
KHNYN	23351	broad.mit.edu	37	14	24909696	24909696	+	3'UTR	DEL	C	C	-			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr14:24909696delC	ENST00000251343.5	+	0	5381				SDR39U1_ENST00000538105.2_Frame_Shift_Del_p.V78fs|SDR39U1_ENST00000399395.3_Frame_Shift_Del_p.V160fs|SDR39U1_ENST00000555365.1_5'UTR|SDR39U1_ENST00000553930.1_Frame_Shift_Del_p.V35fs|SDR39U1_ENST00000554698.1_Frame_Shift_Del_p.V52fs|SDR39U1_ENST00000555561.1_Intron|SDR39U1_ENST00000399390.1_Frame_Shift_Del_p.V65fs			O15037	KHNYN_HUMAN	KH and NYN domain containing								RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CCCAGCACAACCCCTAGAGCA	0.637																																						uc001wpm.2																			0				pancreas(1)	1						c.(475-477)GTTfs		short chain dehydrogenase/reductase family 39U,							9.0	10.0	10.0					14																	24909696		1944	4106	6050	SO:0001624	3_prime_UTR_variant	56948						binding	g.chr14:24909696delC	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.*3205C>-	14.37:g.24909696delC						KHNYN_uc010tpc.1_3'UTR|KHNYN_uc001wph.3_3'UTR|KHNYN_uc010alw.2_3'UTR|SDR39U1_uc001wpi.2_Frame_Shift_Del_p.V51fs|SDR39U1_uc001wpj.2_Frame_Shift_Del_p.V77fs|SDR39U1_uc001wpk.2_Frame_Shift_Del_p.V51fs|SDR39U1_uc001wpl.2_Frame_Shift_Del_p.V104fs|SDR39U1_uc001wpn.2_Frame_Shift_Del_p.V34fs|uc001wpo.1_5'Flank	p.V159fs	NM_020195	NP_064580	Q9NRG7	D39U1_HUMAN			6	507	-			185					Q86TZ6|Q8IUQ2|Q96BA9	Frame_Shift_Del	DEL	ENST00000251343.5	37	c.475delG	CCDS32058.1																																																																																					0.637	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			5	5	5	5	---	---	---	---
VRTN	55237	broad.mit.edu	37	14	74824463	74824463	+	Frame_Shift_Del	DEL	G	G	-	rs201579420		TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr14:74824463delG	ENST00000256362.4	+	2	1218	c.977delG	c.(976-978)cggfs	p.R326fs		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	326					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)	p.V329fs*25(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AGCTTCCACCGGGGGGGCGTC	0.642																																						uc001xpw.3																			1	Insertion - Frameshift(1)		ovary(1)		0						c.(976-978)CGGfs		hypothetical protein LOC55237							51.0	57.0	55.0					14																	74824463		2203	4300	6503	SO:0001589	frameshift_variant	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824463delG	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.977delG	14.37:g.74824463delG	ENSP00000256362:p.Arg326fs						p.R326fs	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00147)	2	1168	+			326					Q9NVC7	Frame_Shift_Del	DEL	ENST00000256362.4	37	c.977delG	CCDS9830.1																																																																																					0.642	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		44	71	44	71	---	---	---	---
TGM3	7053	broad.mit.edu	37	20	2291706	2291706	+	Frame_Shift_Del	DEL	G	G	-			TCGA-22-4601-01A-01D-1441-08	TCGA-22-4601-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6c05b3f5-65e9-4e7d-9f99-a694006f2ed0	9708f08b-7982-4962-a05e-f82a3b24ac20	g.chr20:2291706delG	ENST00000381458.5	+	4	534	c.471delG	c.(469-471)cagfs	p.Q157fs		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	157					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	AGTATGTTCAGGAAGATGCCG	0.458																																						uc002wfx.3																			0				large_intestine(4)|ovary(3)|breast(1)|skin(1)	9						c.(469-471)CAGfs		transglutaminase 3 precursor	L-Glutamine(DB00130)						167.0	156.0	160.0					20																	2291706		2203	4300	6503	SO:0001589	frameshift_variant	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2291706delG	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.471delG	20.37:g.2291706delG	ENSP00000370867:p.Gln157fs						p.Q157fs	NM_003245	NP_003236	Q08188	TGM3_HUMAN			4	568	+			157					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Frame_Shift_Del	DEL	ENST00000381458.5	37	c.471delG	CCDS33435.1																																																																																					0.458	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		70	68	70	68	---	---	---	---
